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Bibliographie

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1997


Bernard DAN, Abstracts for the First National Symposium on Angelman Syndrome organized by the Angelman Foundation Belgium (Brussels, November 29, 1997): Introduction, in European Journal of Paediatric Neurology, Volume 1, Number 4, pages A1-A8. (November 1997)
  1. Jill CLAYTON-SMITH, Clinical overview of Angelman syndrome ;
  2. Joseph WAGSTAFF, Angelman Syndrome : Genetic aspects ;
  3. S. G. BOYD, J. H. CROSS and Bernard DAN, EEG features in Angelman syndrome ;
  4. Bernard DAN, Original animated description of Angelman syndrome ;
  5. J. BRAECKEVELDT, G. POINT and G. VANDERMOT, Angelman syndrome : 23 years clinical history of first Belgian diagnosed case ;
  6. L. TIRANOFF, The Angelman Project ;
  7. A.-M. MISSA, F. VANHORSIGH, F. CHRISTIAENS and M. SZYPER, Psychomotor features of children with Angelman syndrome ;
  8. Bernard DAN, E. BOUILLOT, A. BENGOETXEA, F. CHRISTIAENS, S. G. BOYD and Guy CHERON, Motor strategies in Angelman syndrome, spastic diplegia and normal children ;
  9. S. SENN, M. GERBAUX, Bernard DAN, M. KLEES, F. CHRISTIAENS and M. SZYPER, Speech in Angelman syndrome ;
  10. I. T. M. BOSMAN, S. P. E. SIKKEMA, L. M. G. CURFS, P. C. DUKER and J. P. FRYNS, Incontinence in Angelman syndrome : A sample survey study ;
  11. G. MOUTHEMY, M. KHOURY, M. DOCO-FENZY, M. ADAFER and C. LAJARRIGE, A case of Angelman syndrome in the first year of life ;
  12. F. THERASSE, Bernard DAN, P. HILBERT and L. VAN MALDERGEM, Institutionalized adults with Angelman syndrome ;
  13. Bernard DAN, S. G. BOYD, F. CHRISTIAENS, W. COURTENS, L. VAN MELDERGEM, E. VAMOS and A. KAHN, Atypical forms of Angelman syndrome ;
  14. W. COURTENS, P. HEIMANN, J. BORMANS and E. VAMOS, Clinical findings in 17 patients referred for FISH analysis because of suspicion of Angelman syndrome ;
  15. N. DERIE, P. HILBERT, S. MICHEL, A. DE PAEPE, G. VASSART, Y. GILLEROT and L. VAN MALDERGEM, Angelman syndrome : Loverval experience ;
  16. P. MALZAC, Marie-Odile LIVET, M. A. VOELCKEL and Anne MONCLA, Molecular and clinical study of 89 Angelman syndrome patients diagnosed in the Medical Genetic Department of Marseille [Won the GLAXO-WELLCOME prize for the best paper !] ;
  17. L. M. G. CURFS and J. P. FRYNS, Speaking without words : Angelman's syndrome ;
  18. S. G. BOYD, S. GALIFFA and W. REARDON, No evidence for a common EEG pattern between 4p- and Angelman syndromes ;
  19. J. BRAECKEVELDT, L. DIVANO, P. MOETWIL and G. VANDERMOT, Somatosensory evoked potentials and serial electroencephalograms in Angelman syndrome : case study ;
  20. L. A. E. M. LAAN, W. O. RENIER and Oebele F. BROUWER, EEG findings in Angelman syndrome ;
  21. M. BLOCK, Therapeutic interaction with distressed infants by massage and movement induction ;
  22. I. T. M. BOSMAN, S. P. E. SIKKEMA, L. M. G. CURFS, P. C. DUKER and J. P. FRYNS, Toilet training in Angelman syndrome ;
  23. S. SENECA, L. DE MEIRLEIR, E. VAN ASSCHE, W. LISSENS and I. LIEBAERS, Pitfalls in the molecular diagnosis of Angelman's syndrome.
Bernhard HORSTHEMKE, Structure and function of the human chromosome 15 imprinting center, in J Cell Physiol, Volume 173, Number 2, pages 237-241. (November 1, 1997) [Medline's Abstract]

Tina BUCHHOLZ, J. JACKSON and Arabella SMITH, Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13, in American Journal of Medical Genetics Volume 72, Number 1, pages 117-119. (October 3, 1997) (No abstract available)

S.W. CHEUNG, L.G. SHAFFER, C.S. RICHARDS, S.L. PAGE and D.L. RICONDA, Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15, in American Journal of Medical Genetics, Volume 72, Number 1, pages 47-50. (October 3, 1997) [Medline's Abstract]

T. SUZUKI, M. ICHINOSE, Y. MATSUBARA, N. YAHAGI, K. KUROKAWA, H. FUKAMACHI and K. MIKI, Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13, in J Gastroenterol, Volume 32, Number 5, pages 696-699. (October 1, 1997) [Medline's Abstract]

Ruth SHEMER, Yehudit BIRGER, Arthur D. RIGGS and Aharon RAZIN, Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern, in Proceedings of the National Academy of Sciences of the USA, Volume 94, Number 19, pages 10267-10272. (September 16, 1997) [Medline's Abstract]

R.J. TRENT, L.J. SHEFFIELD, Z.M. DENG, W.S. KIM, N.T. NASSIF, C. RYCE, C.G. WOODS, R.C. MICHAELIS, J. TARLETON, Arabella SMITH, The elusive Angelman syndrome critical region, in Journal of Medical Genetics Volume 34, Number 9, pages 714-718. (September 1, 1997) [Medline's Abstract]

U. ALBRECHT, J.S. SUTCLIFFE, B.M. CATTANACH, C.V. BEECHEY, D. ARMSTRONG, G. EICHELE, Arthur L. BEAUDET, Imprinted expression of the murine Angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons, in Nature Genetics Volume 17, Number 1, pages 75-78. (September 1, 1997) [Medline's Abstract]

C. ROUGEULLE, Heather GLATT and Marc LALANDE, The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain, in Nature Genetics, Volume 17, Number 1, pages 14-15. (September 1, 1997) (No abstract available)

A.R. HOFFMAN, Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain, in Nature Genetics, Volume 17, Number 1, pages 12-13. (September 1, 1997) (No abstract available)

E.C. MICKELSON, W.P. ROBINSON, M.A. HRYNCHAK and M.E. LEWIS, Novel case of Del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17), in American Journal of Medical Genetics, Volume 71, Number 3, pages 275-279. (August 22, 1997) [Medline's Abstract]

J.M. CONROY, T.A. GREBE, L.A. BECKER, K. TSUCHIYA, Robert D. NICHOLLS, Karin BUITING, Bernhard HORSTHEMKE, S.B. CASSIDY and S. SCHWARTZ, Balanced translocation 6,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome, in American Journal of Human Genetics, Volume 61, Number 2, pages 388-394. (August 1, 1997) [Medline's Abstract]

E.B. KEVERNE, Genomic imprinting in the brain, in Curr Opin Neurobiol, Volume 7, Number 4, pages 463-468. (August 1, 1997) [Medline's Abstract]

H.L. GILBERT, Jessica L. BUXTON, C.T. CHAN, T. MACKAY, S. COTTRELL, S. RAMSDEN, R.M. WINTER, Marcus E. PEMBREY and Susan MALCOLM, Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families, in Journal of Medical Genetics, Volume 34, Number 8, pages 651-655. (August 1, 1997) [Medline's Abstract]

Arabella SMITH, Tina BUCHHOLZ and Lisa ROBSON, Diagnostic testing for Prader-Willi and Angelman syndromes: response, in American Journal of Human Genetics, Volume 61, Number 1, pages 241-244. (July 1, 1997) (No abstract available)

J. BÜRGER, Karin BUITING, Bärbel DITTRICH, S. GROSS, C. LICH, K. SPERLING, Bernhard HORSTHEMKE and André REIS, Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome, in American Journal of Human Genetics, Volume 61, Number 1, pages 88-93. (July 1, 1997) [Medline's Abstract]

A.H. LIGON, Arthur L. BEAUDET, L.G. SHAFFER, Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation, in American Journal of Human Genetics, Volume 61, Number 1, pages 51-59. (July 1, 1997) [Medline's Abstract]

B.M. CATTANACH, J.A. BARR, C.V. BEECHEY, J. MARTIN, J. NOEBELS, and J. JONES, A candidate model for Angelman syndrome in the mouse, in Mammalian Genome, Volume 8, Number 7, pages 472-478. (July 1, 1997) [Medline's Abstract]

T. SANDANAM, Helen BEANGE, Lisa ROBSON, Helen WOOLNOUGH, Tina BUCHHOLZ, and Arabella SMITH, Manifestations in institutionalised adults with Angelman syndrome due to deletion, in American Journal of Medical Genetics, Volume 70, Number 4, pages 415-420. (June 27, 1997) [Medline's Abstract]

Chitra PRASAD, and Joseph WAGSTAFF, Genotype and Phenotype in Angelman Syndrome Caused by Paternal UPD 15, in American Journal of Medical Genetics, Volume 70, Number 3, pages 328-329. (June 13, 1997) (No abstract available)

Kelly J. CONNERTON-MOYER, Robert D. NICHOLLS, Stuart SCHWARTZ, Daniel J. DRISCOLL, Jill E. HENDRICKSON, Charles A. WILLIAMS, and Richard M. PAULI, Unexpected familial recurrence in Angelman syndrome, in American Journal of Medical Genetics, Volume 70, Number 3, pages 253-260. (June 13, 1997) [Medline's Abstract]

Cintia FRIDMAN, Fernando KOK, Aron DIAMENT e Célia P. KOIFFMANN, Sídrome de Angelman : Causa frequentemente não reconhecida de deficiência mental e epilepsia : relato de caso, in Arquivos de Neuro Psiquiatria, Volume 55, Numero 2, pages 329-333. (? DATE, 1997) [Texte complet sur "Ils sont aux anges !"]

Sharon L. WENGER, Susan L. SELL, Michael J. PAINTER, and Mark W. STEELE, Inherited unbalanced subtelomeric translocation in a child with 8p- and Angelman syndromes, in American Journal of Medical Genetics, Volume 70, Number 2, pages 150-154. (May 16, 1997) [Medline's Abstract]

Simone GILGENKRANTZ, UBE3A, un gène inattendu impliqué dans le syndrome d'Angelman, in médecine/sciences, Volume 13, Numéro 5, pages 721-722. (mai 1997) [Texte complet sur "Ils sont aux anges !"] (No abstract available)

G. KELSEY and W. REIK, Imprint switch mechanism indicated by mutation in Prader-Willi and Angelman syndromes, in Bioessays, Volume 19, Number 5, pages 361-365. (May 1, 1997) [Medline's Abstract]

Arabella SMITH, R. MARKS, E. HAAN, J. DIXON, and R.J. TRENT, Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy, in Journal of Medical Genetics, Volume 34, Number 5, pages 426-429. (May 1, 1997) [Medline's Abstract]

Takeo KUBOTA, Soma DAS, Susan L. CHRISTIAN, Stephen B. BAYLIN, James G. HERMAN, and David H. LEDBETTER, Methylation-specific PCR simplifies imprinting analysis [letter], in Nature Genetics Volume 16, Number 1, pages 16-17. (May 1, 1997) (No abstract available)

Y. YAMAMOTO, J.M. HUIBREGTSE, and P.M. HOWLEY, The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing, Genomics, Volume 41, Number 2, pages 263-266. (April 15, 1997) [Medline's Abstract]

Gregg E. HOMANICS, Timothy M. DELOREY, Leonard L. FIRESTONE, Joseph J. QUINLAN, Adrian HANDFORTH, Neil L. HARRISON, Matthew D. KRASOWSKI, Caroline E. M. RICK, Esa R. KORPI, Riikka MÄKELÄ, Murray H. BRILLIANT, Nobuko HAGIWARA, Carolyn FERGUSON, Kimberly SNYDER, and Richard W. OLSEN, Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior, in Proceedings of the National Academy of Sciences of the USA, Volume 94, Number 8, pages 4143-4148. (April 15, 1997) [PNAS HomePage] [Medline's Abstract]

C.C.GLENN, D.J. DRISCOLL, T.P. YANG and Robert D. NICHOLLS, Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes, in Mol Hum Reprod, Volume 3, Number 4, p.321-332. (April 1, 1997)
[Medline's Abstract]

D.I. RUBIN, M.C. PATTERSON, B.F. WESTMORELAND, and D.W. KLASS, Angelman's syndrome: clinical and electroencephalographic findings, in Electroencephalogr Clin Neurophysiol, Volume 102, Number 4, pages 299-302. (April 1, 1997) [Medline's Abstract]

K. GLATT, Heather GLATT, and Marc LALANDE, Structure and organization of GABRB3 and GABRA5, in Genomics, Volume 41, Number 1, pages 63-69. (April 1, 1997) [Medline's Abstract]

B. TYCKO, DNA methylation in genomic imprinting, in Mutat Res, Volume 386, Number 2, pages 131-140. (April 1, 1997) [Medline's Abstract]

James S. SUTCLIFFE, Yong-hui JIANG, Robert-Jan GALJAARD, Toshinobu MATSUURA, Ping FANG, Takeo KUBOTA, Susan L. CHRISTIAN, Jan BRESSLER, Bruce CATTANACH, David H. LEDBETTER and Arthur L. BEAUDET, The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region [LETTER], in Genome Res, Volume 7, Number 4, pages 368-377. (April 1, 1997) [Medline's Abstract]

A. BATTAGLIA, F. GURRIERI, E. BERTINI, A. BELLACOSA, M.G. POMPONI and M. PARAVATOU-PETSOTAS, The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy, in Neurology, Volume 48, Number 4, pages 1081-1086. (April 1, 1997) [Medline's Abstract]

M. ZESCHNIGK, C. LICH, Karin BUITING, Walter DOERFLER and Bernhard HORSTHEMKE, A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus, in Eur J Hum Genet, Volume 5, Number 2, pages 94-98. (March 1, 1997) [Medline's Abstract]

Michael ZESCHNIGK, Birgit SCHMITZ, Bärbel DITTRICH, Karin BUITING, Bernhard HORSTHEMKE and Walter DOERFLER, Imprinted segments in the human genome: different DNA methylation patterns in the Pradder-Willi/Angelman syndrome region as determined by the genomic sequencing method, in Human Molecular Genetics, Volume 6, Issue 3, pages 387-395. (March 1, 1997) [Original Abstract], [Full text], [Medline's Abstract]

C. MIGNON, F. PARENTE, C. STAVROPOULOU, P. COLLIGNON, Anne MONCLA, C. TURC-CAREL, and M.-G. MATTEI, Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies, in Journal of Medical Genetics, Volume 34, Number 3, pages 217-222. (March 1, 1997) [Medline's Abstract]

Timothy DONLON, Fishing out the Angelman syndrome gene, in Nature Medecine, Volume 3, Number 3, page 281. (March 1, 1997) (No abstract available)

Valerie GREGER, Joan H. M. KNOLL, Joseph WAGSTAFF, Elizabeth WOOLF, Paulena LIESKE, Heather GLATT, Peter A. BENN, Sally S. ROSENGREN, and Marc LALANDE, Angelman Syndrome Associated with an Inversion of Chromosome 15q11.2q24.3, in American Journal of Human Genetics, Volume 60, Number 3, pages 574-580. (March 1, 1997) [Medline's Abstract]

J.R. OSTERGAARD and A.H. JUHL, [EEG and early diagnosis of Angelman syndrome], in Ugeskrift for Laeger Volume 159, Number 9, pages 1273-1276. (February 24, 1997) (Danish) [Medline's Abstract]

Laura A.E.M. LAAN, Willy O. RENIER, W.F. ARTS, I.M. BUNTINX, I.J. VAN DEN BURGT, H. STROINK, J. BEUTEN, K.H. ZWINDERMAN, J.G. VAN DIJK, and Oebele F. BROUWER, Evolution of epilepsy and EEG findings in Angelman syndrome, in Epilepsia Volume 38, Number 2, pages 195-199. (February 1, 1997) [Medline's Abstract]

Shinji SAITOH, Karin BUITING, Suzanne B. CASSIDY, Jeffrey M. CONROY, Daniel J. DRISCOLL, James M. GABRIEL, Gabriele GILLESSEN-KAESBACH, Christopher C. GLENN, Louise R. GREENSWAG, Bernhard HORSTHEMKE, Ikuko KONDO, Katsuko KUWAJIMA, Norio NIIKAWA, Peter K. ROGAN, Stuart SCHWARTZ, James SEIP, Charles A. WILLIAMS, and Robert D. NICHOLLS, Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation, in American Journal of Medical Genetics, Volume 68, Number 2, pages 195-206. (January 20, 1997) [Medline's Abstract]

M.L. BUDARF, et al., Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?, in Hum Mol Genet, Volume 6, Number 10, pages 1657-1665. (January 1, 1997) [Medline's Abstract]

J. BATTIN, [Parental genomic imprinting and its implications in growth], in ___________, Volume 4, Numéro 2 Supplément, page 125S-130S, (1 janvier 1997) (French) (No abstract available)

E. ENGEL, Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept), in Annales de Génétique, Volume 40, Numéro 1, pages 24-34. (1 janvier 1997) [Medline's Abstract]

J.-W. HOU, P.-J. WANG, and T.-R. WANG, Angelman Syndrome Assessed by Neurological and Molecular Cytogenetic Investigations, in Pediatric Neurology, Volume 16, Number 1, pages 17-22. (January 1, 1997) [Medline's Abstract]

H. MOHLER, Genetic approaches to CNS disorders with particular reference to GABAA-receptor mutations, in J Recept Signal Transduct Res, Volume 17, Number 1-3, pages 1-10. (January 1, 1997) [Medline's Abstract]

M. H. EBERT, D.E. SCHMIDT, T. THOMPSON, and M.G. BUTLER, Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome, in J Neuropsychiatry Clin Neurosci, Volume 9, Number 1, pages 75-80. (January 1, 1997) [Medline's Abstract]

B. HUANG, et al., Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes, in Hum Genet, Volume 99, Number 1, pages 11-17. (January 1, 1997) [Medline's Abstract]

Toshinobu MATSUURA, James S. SUTCLIFFE, Ping FANG, Robert-Jan GALJAARD, Yong-hui JIANG, Claudia S. BENTON, Johanna M. ROMMENS, and Arthur L. BEAUDET, De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome [letter], in Nature Genetics, Volume 15, Number 1, pages 74-78. (January 1, 1997) [Original Abstract], [Medline's Abstract]

Tatsuya KISHINO, Marc LALANDE and Joseph WAGSTAFF, UBE3A/E6-AP mutations cause Angelman syndrome [letter], in Nature Genetics, Volume 15, Number 1, pages 70-74. (January 1, 1997) [Original Abstract], [Medline's Abstract]

Kristin G. MONAGHAN, Daniel L. VAN DYKE, Gerald FELDMAN, Anne WIKTOR, and Lester WEISS, Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndrome [letter], in American journal of Human Genetics Volume 60, Number 1, pages 244-247. (January 1, 1997) (No abstract available)

1996


João M. de PINA NETO, Victor Evangelista F. FERRAZ, Greice Andreotti de MOLFETTA, Jess BUXTON, Sarah RICHARD e Sue MALCOLM, Estudo clínico, citogenético e molecular nas síndromes de Prader-Willi e Angelman, in Medicina, Ribeirão Preto, Volume 29, pages 488-495. (out./dez. 1996) [Texte complet sur "Ils sont aux anges !"]

Vijay TONK, Roger A. SCHULTZ, Susan L. CHRISTIAN, Takeo KUBOTA, David H. LEDBETTER and Golder N. WILSON, Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy, in American Journal of Medical Genetics, Volume 66, Number 4, pages 426-428. (December 30, 1997) [Medline's Abstract]

Laura A.E.M. LAAN, Annemieke Th. DEN BOER, Raoul C.M. HENNEKAM, Willy O. RENIER, and Oebele F. BROUWER, Angelman syndrome in adulthood, in American Journal of Medical Genetics, Volume 66, Number 3, pages 356-360. (December 18, 1996) [Medline's Abstract]

Joachim BÜRGER, Jürgen KUNZE, Karl SPERLING, and André REIS, Phenotypic differences in Angelman syndrome patients, in American Journal of Medical Genetics, Volume 66, Number 2, pages 221-226. (December 11, 1996) [Medline's Abstract]

Takeo KUBOTA, James S. SUTCLIFFE, Swaroop ARADHYA, Gabriele GILLESSEN-KAESBACH, Susan L. CHRISTIAN, Bernhard HORSTHEMKE, Arthur L. BEAUDET and David H. LEDBETTER, Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome, in American Journal of Medical Genetics, Volume 66, Number 1, pages 77-80. (December 2, 1996) [Medline's Abstract]

V.A. MGLINETS, LIa LEVINA and L.M. KONSTANTINOVA, [Genomic imprinting and its role in Prader-Willi and Angelman syndromes], in Genetika, Volume 32, Number 12, pages 1605-1615. (December 1, 1996) (Russian) [Medline's Abstract]

Norio NIIKAWA, Genomic imprinting and its relevance to genetic diseases, in Jpn J Hum Genet, Volume 41, Number 4, pages 351-361. (December 1, 1996) [Medline's Abstract]

Susan MALCOLM, Microdeletion and microduplication syndromes, in Prenat Diagn, Volume 16, Number 13, pages 1213-1219. (December 1, 1996) [Medline's Abstract]

Takeo KUBOTA, Swaroop ARADHYA, Michelle MACHA, Ann C. M. SMITH, Linda C. SURH, Jayavanthi SATISH, Marion S. VERP, Holly L. NEE, Anthony JOHNSON, Susan L. CHRISTIAN and David H. LEDBETTER, Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis, in Journal of Medical Genetics, Volume 33, Number 12, pages 1011-1014. (December 1, 1996) [Medline's Abstract]

Simone GILGENKRANTZ, En attendant les gènes, un nouveau test d'aide au conseil génétique pour les syndromes de Prader-Willi et d'Angelman, in médecine/sciences, Volume 12, Numéro 12, page 1441. (décembre 1996) (No abstract available)

R. KATO and Norio NIIKAWA, Genomic imprinting, in Tanpakushitsu Kakusan Koso Volume 41, Supplement 15, pages 2325-2334. (November 1, 1996) (No abstract available)

Bernhard HORSTHEMKE, Anneke MAAT-KIEVIT, Eva SLEEGERS, Ans VAN DEN OUWELAND, Karin BUITING, Christina LICH, Paul MOLLEVANGER, Geoff BEVERSTOCK, Gabriele GILLESSEN-KAESBACH and Gesa SCHWANITZ, Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome, in Journal of Medical Genetics, Volume 33, Number 10, pages 848-851. (October 1, 1996) [Medline's Abstract]

K.M. FISCHER, Genes for Prader Willi syndrome/Angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression, in Med Hypotheses, Volume 47, Number 4, pages 289-298. (October 1, 1996) [Medline's Abstract]

Bärbel DITTRICH, Karin BUITING, Bernd KORN, Sarah RICKARD, Jessica L. BUXTON, Shinji SAITOH, Robert D. NICHOLLS, Annemarie POUSTKA, Andreas WINTERPACHT, Bernhard ZABEL, and Bernhard HORSTHEMKE, Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene, in Nature Genetics, Volume 14, Number 2, pages 163-170. (October 1, 1996) [Medline's Abstract]

Anne C. FERGUSON-SMITH, Imprinting moves to the centre, in Nature Genetics, Volume 14, Number 2, pages 119-121. (October 1, 1996) (No abstract available)

M. NAKAO, et al., Genomic imprinting: significance in development and diseases and the molecular mechanisms, in J Biochem (Tokyo), Volume 120, Number 3, pages 467-473. (September 1, 1996) [Medline's Abstract]

V. LINDGREN, Genomic imprinting in disorders of growth, in Endocrinol Metab Clin North Am, Volume 25, Number 3, pages 503-521. (September 1, 1996) [Medline's Abstract]

Lisa M. WHITE, Peter K. ROGAN, Robert D. NICHOLLS, Bai-Lin WU, Bruce KORF and Joan H.M. KNOLL, Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy, in American Journal of Human Genetics, Volume 59, Number 2, pages 423-430. (August 1, 1996) [Medline's Abstract]

Shinji SAITOH, Karin BUITING, Peter K. ROGAN, Jessica L. BUXTON, Daniel J. DRISCOLL, Joachim ARNEMANN, Rainer KÖNIG, Susan MALCOLM, Bernhard HORSTHEMKE and Robert D. NICHOLLS, Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations, in Proceedings of the National Academy of Sciences of the USA, Volume 93, Number 15, pages 7811-7815. (July 23, 1996) [Medline's Abstract]

R. GUERRINI, T.M. DE LOREY, P. BONANNI, Anne MONCLA, C. DRAVET, G. SUISSE, Marie-Odile LIVET, M. BUREAU, P. MALZAC, P. GENTON, P. THOMAS, F. SARTUCCI, P. SIMI and J.M. SERRATOSA, Cortical myoclonus in Angelman syndrome, in Annals of Neurology, Volume 40, Number 1, pages 39-48. (July 1, 1996) [Medline's Abstract]

J.W. HOU and T.R. WANG, Prader-Willi syndrome: clinical and molecular cytogenetic investigations, in J Formos Med Assoc, Volume 95, Number 6, pages 474-479. (June 1, 1996) [Medline's Abstract]

Martin ERDEL, Simone SCHUFFENHAUER, Bettina BUCHHOLZ, Uli BARTH-WITTE, Silvano KÖCHL, Barbara UTERMANN, Hans-Christoph DUBA and Gerd UTERMANN, Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10), in Hum Genet, Volume 97, Number 6, pages 784-793. (June 1, 1996) [Medline's Abstract]

Joke BEUTEN, James S. SUTCLIFFE, Brett M. CASEY, Arthur L. BEAUDET, Raoul C.M. HENNEKAM and Patrick J. WILLEMS, Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN, in American Journal of Medical Genetics, Volume 63, Number 2, pages 414-415. (May 17, 1996) (No abstract available)

R. GARDNER Jr., et al., Psychiatry needs a basic science titled sociophysiology, in Biol Psychiatry, Volume 39, Number 10, pages 833-834. (May 15, 1996) (No abstract available)

Janine M. LASALLE and Marc LALANDE, Homologous association of oppositely imprinted chromosomal domains, in Science, Volume 272, Number 5262, pages 725-728. (May 3, 1996) [Medline's Abstract]

[No author], Imprint by association, in Science, Volume 272, Number 5262, page 625. (May 3, 1996) (in "This Week in Science") (No abstract available)

M. KING, C. HARDY, B. ASENBAUER, M. KILPATRICK and T. WEBB, A boy with developmental delay and a maternally inherited deletion in 15q11q13, in Journal of Medical Genetics, Volume 33, Number 5, pages 422-425. (May 1, 1996) [Medline's Abstract]

I. ODANO, T. ANEZAKI, M. OHKUBO, Y. YONEKURA, Y. ONISHI, T. INUZUKA, M. TAKAHASHI and S. TSUJI, Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography, in Eur J Nucl Med, Volume 23, Number 5, pages 598-604. (May 1, 1996) [Medline's Abstract]

M. KYLLERMAN, [Practical information on Angelman syndrome], in Lakartidningen (Swedish), Volume 93, Number 18, page 1710. (May 1, 1996) (No abstract available)

[No authors listed], Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee, in American Journal of Human Genetics, Volume 58, Number 5, pages 1085-1088. (May 1, 1996) (No abstract available)

R.P. LEITNER and Arabella SMITH, An Angelman syndrome clinic: report on 24 patients, in J Paediatr Child Health, Volume 32, Number 2, pages 94-98. (April 1, 1996) [Medline's Abstract]

O. ROSBY, P. STROMME, M. SANDSMARK, K. RAMSTAD, E. ORMEROD, C. BIRGER VAN DER HAGEN, Takeo KUBOTA, David H. LEDBETTER and K.H. ORSTAVIK, Unilateral cleft lip in a boy with Angelman syndrome, in J Craniofac Genet Dev Biol, Volume 16, Number 2, pages 122-125. (April 1, 1996) [Medline's Abstract]

Leah W. BURKE, John E. WILEY, Christopher C. GLENN, Daniel J. DRISCOLL, Kenneth M. LOUD, April J. W. SMITH and Theodore KUSHNICK, Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?, in American Journal of Human Genetics, Volume 58, Number 4, pages 777-784. (April 1, 1996) [Medline's Abstract]

Astrid SCHULZE, Claus HANSEN, Niels Erik SKAKKEBÆAEK, Karen BRØNDUM-NIELSEN, David H. LEDBETTER and Niels TOMMERUP, Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint, in Nature Genetics, Volume 12, Number 4, pages 452-454. (April 1, 1996) [Medline's Abstract]

I. TESHIMA, D. CHADWICK, D. CHITAYAT, J. KOBAYASHI, P. RAY, C. SHUMAN, J. SIEGEL-BARTELT, P. STRASBERG and R. WEKSBERG, FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes, in American Journal of Medical Genetics, Volume 62, Number 3, pages 216-223. (March 29, 1996) [Medline's Abstract]

U. PALSSON-STRAE, et al, [Angelman syndrome. A developmental disorder with important significance for understanding genetic imprinting], in Lakartidningen, Volume 93, Number 10, pages 921-924. (March 6, 1996) (Swedish) (No abstract available)

Joke BEUTEN, Raoul C. HENNEKAM, Bernadette VAN ROY, Kathelijne MANGELSCHOTS, James S. SUTCLIFFE, Dicky J. J. HALLEY, Frederic A. M. HENNEKAM, Arthur L. BEAUDET and Patrick J. WILLEMS, Angelman syndrome in an inbred family, in Hum Genet, Volume 97, Number 3, pages 294-298. (March 1996) [Medline's Abstract]

P.K. ROGAN, et al., Distinct 15q genotypes in Russell-Silver and ring 15 syndromes, in American Journal of Medical Genetics, Volume 62, Number 1, pages 10-15. (March 1, 1996) [Medline's Abstract]

W.S. KIM, et al., Establishment of sequence-tagged sites on 15q11-q13 by Alu-vector PCR cloning of YAC-generated fragments, in Dis Markers, Volume 12, Number 4, pages 241-246. (March 1, 1996) [Medline's Abstract]

E. SIMONOFF, et al., Mental retardation: genetic findings, clinical implications and research agenda, in J Child Psychol Psychiatry, Volume 37, Number 3, pages 259-280. (March 1, 1996) [Medline's Abstract]

Arabella SMITH, C. WILES, E. HAAN, J. MCGILL, G. WALLACE, J. DIXON, R. SELBY, A. COLLEY, R. MARKS and R.J. TRENT, Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion, in J Med Genet, Volume 33, Number 2, pages 107-112. (February 1, 1996) [Medline's Abstract]

S. STEFFENBURG, et al., Autism in Angelman syndrome: a population-based study, in Pediatr Neurol, Volume 14, Number 2, pages 131-136. (February 1, 1996) [Medline's Abstract]

Christopher C. GLENN, Shinji SAITOH, Michelle T. C. JONG, Michelle M. FILBRANDT, Urvashi SURTI, Daniel J. DRISCOLL and Robert D. NICHOLLS, Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene, in American Journal of Human Genetics, Volume 58, Number 2, pages 335-346. (February 1, 1996) [Medline's Abstract]

Bärbel DITTRICH, Karin BUITING and Barnhard HORSTHEMKE, PW71 methylation test for Prader-Willi and Angelman syndromes, in American Journal of Medical Genetics, Volume 61, Number 2, pages 196-197. (January 11, 1996) (No abstract available)

Wendy L. FLEJTER, Pamela E. BENNET-BAKER, Mohammad GHAZIUDDIN, Marie MCDONALD, Susan SHELDON and Jerome L. GORSKI, Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic diorder and mental retardation, American Journal of Medical Genetics, Volume 61, Number 2, pages 182-187. (January 11, 1996) (No abstract available)

Patricia A. MOWERY-RUSHTON, Daniel J. DRISCOLL, Robert D. NICHOLLS, Joseph LOCKER and Urvashi SURTI, DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region, in American Journal of Medical Genetics, Volume 61, Number 2, pages 140-146. (January 11, 1996) [Medline's Abstract]

K. NARAHARA, [Prader-Willi syndrome, Angelman syndrome], in CAY, Number 15, pages 220-223. (January 1, 1996) (Japanese) (No abstract available)

J.J. ENGELEN, et al., Application of micro-FISH to delineate deletions, in Cytogenet Cell Genet, Volume 75, Number 2-3-, pages 167-171. (January 1, 1996) [Medline's Abstract]

Marc LALANDE, Parental imprinting and human disease, in Annu Rev Genet, Volume 30, pages 173-195. (January 1, 1996) [Medline's Abstract]

S. RAMSDEN, et al., A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation, in Acta Genet Med Gemellol (Roma), Volume 45, Number 1-2, pages 255-261. (January 1, 1996) [Medline's Abstract]

A. CECCONI, et al., Phenotype-karyotype-genotype correlations in Prader-Willi and Angelman syndromes: preliminary results, in Acta Genet Med Gemellol (Roma), Volume 45, Number 1-2, pages 227-231. (January 1, 1996) (No abstract available)

Tina BUCHHOLZ, et al., Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome, in Acta Genet Med Gemellol (Roma), Volume 45, Number 1-2, pages 217-220. (January 1, 1996) (No abstract available)

Arabella SMITH, Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?, in Acta Genet Med Gemellol (Roma), Volume 45, Number 1-2, pages 179-189. (January 1, 1996) (No abstract available)

M. NAKAO, et al., Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms, in Hum Mutat, Volume 7, Number 2, pages 144-148. (January 1, 1996) [Medline's Abstract]

H. MOHLER, et al., The GABAA receptors. From subunits to diverse functions, in Ion Channels, Number 4, pages 89-113. (January 1, 1996) (No abstract available)

1995


T.K. MOHANDAS, et al., Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7, in Genomics, Volume 30, Number 3, pages 594-597. (December 10, 1995)

H. KAWAME, et al., Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci, in Hum Mol Genet, Volume 4, Number 12, pages 2287-2293. (December 1, 1995)

C.R. SCHAD, et al., Genetic testing for Prader-Willi and Angelman syndromes, in Mayo Clin Proc, Volume 70, Number 12, pages 1195-1196. (December 1, 1995) (No abstract available)

V. SGRO, et al., 4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern, in Epilepsia, Volume 36, Number 12, pages 1206-1214. (December 1, 1995)

M. KYLLERMAN, On the prevalence of Angelman syndrome, in American Journal of Medical Genetics, Volume 59, Number 3, page 405. (November 20, 1995) (No abstract available)

Jill CLAYTON-SMITH, On the prevalence of Angelman syndrome, in American Journal of Medical Genetics, Volume 59, Number 3, pages 403-404. (November 20, 1995) (No abstract available)

F. VIANI, A. ROMEO, M. VIRI, M. MASTRANGELO, F. LALATTA, A. SELICORNI, G. GOBBI, G. LANZI, D. BETTIO, V. BRISCIOLI, et al, Seizure and EEG patterns in Angelman's syndrome, in Journal of Child Neurology, Volume 10, Number 6, pages 467-471. (November 1, 1995)

M.S. LIN, et al., Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication, in Hum Genet, Volume 96, Number 5, pages 572-576. (November 1, 1995)

J.E. PELLEGRINO, et al., Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?, in Hum Genet, Volume 96, Number 4, pages 485-489. (October 1, 1995)

Vijay TONK, Herman E. WYANDT, Peter OSELLA, James SKARE, Bai Lin WU, Bassem HADDAD and Aubrey MILUNSKY, Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q, in Clinical Genetics, Volume 48, Number 3, pages 151-155. (September 1, 1995)

A. PALDI, et al., Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies, in Curr Biol, Volume 5, Number 9, pages 1030-1035. (September 1, 1995)

A. JAUCH, Lisa ROBSON, and Arabella SMITH, Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes, in Hum Genet, Volume 96, Number 3, pages 345-349. (Septembre 1, 1995)

R. BRDICKA, [The human genome--chromosome 15], in Cas Lek Cesk, Volume 134, Number 15, pages 484-486. (August 2, 1995) (Czech)

Charles A. WILLIAMS, Roberto T. ZORI, Jill HENDRICKSON, Heather STALKER, Tiffany MARUM, Elaine WHIDDEN and Daniel J. DRISCOLL, Angelman syndrome, in Curr Probl Pediatr, Volume 25, Number 7, pages 216-231. (August 1, 1995) (No abstract available) (An update of "Facts about Angelman Syndrome" distributed by the ASF)

S. LUKE, et al., The genomic sequence for Prader-Willi/Angelman syndromes' loci of human is apparently conserved in the great apes, in J Mol Evol, Volume 41, Number 2, pages 250-252. (August 1, 1995)

C.L. DEAL, Parental genomic imprinting, in Curr Opin Pediatr, Volume 7, Number 4, pages 445-458. (August 1, 1995)

Sharon L. WENGER and James H. CUMMINS, Fluorescent in situ hybridization for evaluation of Prader-Willi and Angelman syndromes, in American Journal of Medical Genetics, Volume 57, Number 4, page 639. (July 17, 1995) (No abstract available)

Orit REISH and Richard A. KING, Angelman syndrome at an older age, in American Journal of Medical Genetics, Volume 57, Number 3, pages 510-511. (July 3, 1995) (No abstract available)

Susan L. CHRISTIAN, W. P. ROBINSON, B. HUANG, A. MUTIRANGURA, M. R. LINE, M. NAKAO, U. SURTI, A. CHAKRAVARTI and David H. LEDBETTER, Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients, in American Journal of Human Genetics, Volume 57, Number 1, pages 40-48. (July 1, 1995)

Michael B. PETERSEN, Karen BRØNDUM-NIELSEN, Lars Kjærsgård HANSEN and Karl WULFF, Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county, in American Journal of Medical Genetics (Neuropsychiatric Genetics edition), Volume 60, Number 3, pages 261-262. (June 19, 1995) (No abstract available)

Nancy B. SPINNER, Elaine ZACKAI, Sou-De CHENG and Joan H. M. KNOLL, Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13, in American Journal of Medical Genetics, Volume 57, Number 1, pages 61-65. (May 22, 1995)

C.J. LOVELL-SMITH, et al., A new genetic test for Prader-Willi and Angelman syndromes, in N Z Med J, Volume 108, Number 999, page 179. (May 10, 1995) (No abstract available)

Merlin G. BUTLER, High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome, in American Journal of Medical Genetics, Volume 56, Number 4, pages 420-422. (May 8, 1995) (No abstract available)

Angela SCHEUERLE, Julie L. ZENGER-HAIN, Daniel L. VAN DYKE, David H. LEDBETTER, Frank GREENBERG and Lisa G. SHAFFER, Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter), in American Journal of Medical Genetics, Volume 56, Number 4, pages 403-408. (May 8, 1995)

Ans M. VAN DEN OUWELAND, Mieke N. VAN DER EST, Eveline WESBY-VAN SWAAY, Ton S. L. N. TIJMENSEN, Frans J. LOS, Jan O. VAN HEMEL, Raoul C. M. HENNEKAM, Hanne J. MEIJERS-HEIJBOER, Martinus F. NIERMEIJER and Dicky J. J. HALLEY, DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63), in Hum Genet, Volume 95, Number 5, pages 562-567. (May 1, 1995)

W.P. ROBINSON, et al., Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region, in Hum Mol Genet, Volume 4, Number 5, pages 801-806. (May 1, 1995)

Arabella SMITH, et al., Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes, in Arch Dis Child, Volume 72, Number 5, pages 397-402. (May 1, 1995)

Gabriele GILLESSEN-KAESBACH, Beate ALBRECHT, Eberhard PASSARGE and Bernhard HORSTHEMKE, Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype, in American Journal of Medical Genetics, Volume 56, Number 3, pages 328-329. (April 10, 1995) (No abstract available)

P.J. MACLEAN, et al., Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster, in Genomics, Volume 26, Number 3, pages 580-586. (April 10, 1995)

W. GOPAL, et al., Diagnosis of microdeletion syndromes: high-resolution chromosome analysis versus fluorescence in situ hybridization, in Am J Med Sci, Volume 309, Number 4, pages 208-212. (April 1, 1995)

Karin BUITING, Shinji SAITOH, Stephanie GROSS, Bärbel DITTRICH, Stuart SCHWARTZ, Robert D. NICHOLLS and Bernhard HORSTHEMKE, Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15, in Nature Genetics, Volume 9, Number 4, pages 395-400. (April 1, 1995)

J.A. SUMMERS, D.B. ALLISON, P.S. LYNCH, and L. SANDLER, Behaviour problems in Angelman syndrome, in Journal of Intellectual Disability Research, Volume 39, Part 2, pages 97-106. (April 1, 1995)

Charles A. WILLIAMS, Harry ANGELMAN, Jill CLAYTON-SMITH, Daniel J. DRISCOLL, Jill E. HENDRICKSON, Joan H.M. KNOLL, R. Ellen MAGENIS, Albert SCHINZEL, Joseph WAGSTAFF, Elaine M. WHIDDEN, and Roberto T. ZORI, Angelman syndrome : Consensus for diagnostic criteria, in American Journal of Medical Genetics, Volume 56, pages 237-238. (March 27, 1995)

D. BETTIO, N. RIZZI, D. GIARDINO, G. GRUGNI, V. BRISCIOLI, A. SELICORNI, F. CARNEVALE and L. LARIZZA, FISH analysis in Prader-Willi and Angelman syndrome patients, in American Journal of Medical Genetics, Volume 56, Number 2, pages 224-228. (March 27, 1995)

Inge M. BUNTINX, Raoul C.M. HENNEKAM, Oebele F. BROUWER, Hans STROINK, Joke BEUTEN, Kathelijne MANGELSCHOTS, and J.P. FRYNS, Clinical profile of Angelman syndrome at different ages, in American Journal of Medical Genetics, Number 56, Number 2, pages 176-183. (March 27, 1995)

Cintia FRIDMAN, Estudo Genético-Clínico de Síndromes Associadas à região 15q11-13, Tese de Mestrado apresentada no Depto. de Biologia do Instituto de Biociências da Universidade de São Paulo. (1995)

L. WHITE and J. H. M. KNOLL, Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection, in American Journal of Medical Genetics, Volume 56, Number 1, pages 101-105. (March 13, 1995)

SuEllen TOTH-FEJEL, R. Ellen MAGENIS, Stuart LEFF, Michael G. BROWN, Bonnie COMEGYS, Helen LAWCE, Toby BERRY, David KESNER, Mary Jane WEBB and Susan OLSON, Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics, in American Journal of Medical Genetics, Volume 55, Number 4, pages 444-452 (February 13, 1995)

J.A. CROLLA, et al., Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis, in Hum Genet, Volume 95, Number 2, pages 161-170. (February 1, 1995)

Ron C. MICHAELIS, Steven A. SKINNER, Bonné A. LETHCO, Richard J. SIMENSEN, Timothy A. DONLON, Jack TARLETON and Mary C. PHELAN, Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region, in American Journal of Medical Genetics, Volume 55, Number 1, pages 120-126. (January 2, 1995)

M. STEFANOVA, DNA methylation pattern in Angelman syndrome, in Folia Med (Plovdiv), Volume 37, Supplement 4A, page 67. (January 1, 1995) (No abstract available)

C. POLYCHRONAKOS, et al., Imprinting of IGF2, insulin-dependent diabetes, immune function, and apoptosis: a hypothesis, in Dev Genet, Volume 17, Number 3, pages 253-262. (January 1, 1995)

E. ENGEL, [Uniparental disomy: a review of causes and clinical sequelae], in Ann Genet, Volume 38, Numéro 3, pages 113-136. (1 janvier 1995) (French)

D. ABELIOVICH, et al., Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes, in Eur J Hum Genet, Volume 3, Number 1, pages 49-55. (January 1, 1995)

G.L. CASARA, M. VECCHI, C. BONIVER, P. DRIGO, C. BACCICHETTI, L. ARTIFONI, E. FRANZONI i V. MARCHIANI, Electroclinical diagnosis of Angelman syndrome: a study of 7 cases, in Brain and Development, Volume 17, Number 1, pages 64-68. (January 1, 1995)

B. DALLAPICCOLA, et al., The link between cytogenetics and mendelism, in Biomed Pharmacother, Volume 49, Number 2, pages 83-93. (January 1, 1995)

1994


R. OHLSSON, et al., Impressions of imprints, in Trends Genet, Volume 10, Number 12, pages 415-417. (December 1, 1994) (No abstract available)

Valerie GREGER, André REIS and Marc LALANDE, The critical region for Angelman syndrome lies between D15S122 and D15S113, in American Journal of Medical Genetics, Volume 53, Number 4, pages 396-398. (December 1, 1994) (No abstract available)

Anne MONCLA, Marie-Odile LIVET, P. MALZAC, M. A. VOELCKEL, M. G. MATTEI, J. F. MATTEI et F. GIRAUD, Le syndrome d'Angelman [Angelman syndrome], in Arch Pédiatr, Volume 1, Numéro 12, pages 1118-1126. (1 décembre 1994) (French)

M.H. BRILLIANT, et al., The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2, in Pigment Cell Res, Volume 7, Number 6, pages 398-402. (December 1, 1994)

G.R. TAYLOR, J. S. NOBLE and R. F. MUELLER, Automated analysis of multiplex microsatellites, in J Med Genet, Volume 31, Number 12, pages 937-943. (December 1, 1994)

Sou-De CHENG, Nancy B. SPINNER, Elaine H. ZACKAI and Joan H. M. KNOLL, Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients, in American Journal of Human Genetics, Volume 55, Number 4, pages 753-759. (October 1, 1994)

R. WEVRICK, et al., Identification of a novel paternally expressed gene in the Prader-Willi syndrome region, in Hum Mol Genet, Volume 3, Number 10, pages 1877-1882. (October 1, 1994)

A. A. SCHINZEL, L. BRECEVIC, F. BERNASCONI, F. BINKERT, F. BERTHET, A. WUILLOUD and W. P. ROBINSON, Intrachromosomal triplication of 15q11-q13, in J Med Genet, Volume 31, Number 10, pages 798-803. (October 1, 1994)

Syed M. JALAL, Diane L. PERSONS, Gordon W. DEWALD, Noralane M. LINDOR, Form of 15q proximal duplication appears to be a normal euchromatic variant, in American Journal of Medical Genetics, Volume 52, Number 4, pages 495-497. (October 1, 1994) (No abstract available)

H.J. STALKER, D.L. DRISCOLL, J.E. HENDRICKSON, Charles A. WILLIAMS, Genetic counseling in Angelman syndrome: the importance of molecular studies and clinical jusgement in determination of recurrence risk, in American Journal of Human Genetics, Volume 55, Number 3, page A144. (1994)

James S. SUTCLIFFE, Mitsuyoshi NAKAO, Susan CHRISTIAN, Karen H. ÖRSTAVIK, Niels TOMMERUP, David H. LEDBETTER and Arthur L. BEAUDET, Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region, in Nature Genetics, Volume 8, Number 1, pages 52-58. (September 1, 1994)

Marc LALANDE, In and around SNRPN, in Nature Genetics, Volume 8, Number 1, pages 5-7. (September 1, 1994) (No abstract available)

M.R. NELEN, C.J.A.M. VAN DER BURGT, W.N. NILLESEN, A. VIS and H.J.M. SMEETS, Familial Angelman syndrome with a crossover in the critical deletion region, in American Journal of Medical Genetics, Volume 52, Number 3, pages 352-357. (September 1, 1994)

G. INCORPORA, M. COCUZZA and T. MATTINA, Angelman syndrome and vermian cyst, in American Journal of Medical Genetics, Volume 52, Number 2, pages 246-247. (August 15, 1994) (No abstract available)

Shinji SAITOH, Naoki HARADA, Yoshihiro JINNO, Katsuyo HASHIMOTO, Kiyoshi IMAIZUMI, Yoshikazu KUROKI, Yoshimitsu FUKUSHIMA, Tateo SUGIMOTO, Mónica RENEDO, Joseph WAGSTAFF, Marc LALANDE, Apiwat MUTIRANGURA, Akira KUWANO, David H. LEDBETTER and Norio NIIKAWA, Molecular and clinical study of 61 Angelman syndrome patients, in American Journal of Medical Genetics, Volume 52, pages 158-163. (August 15, 1994)

Jessica L. BUXTON, Chi-tsung J. CHAN, Helen GILBERT, Jill CLAYTON-SMITH, John BURN, Marcus E. PEMBREY and Susan MALCOLM, Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb, in Human Molecular Genetics, Volume 3, Number 8, pages 1409-1413. (August 1, 1994)

Judith A. DELACH, Sally S. ROSENGREN, Lawrence KAPLAN, Robert M. GREENSTEIN, Suzanne B. CASSIDY and Peter A. BENN, Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome, in American Journal of Medical Genetics, Volume 52, Number 1, pages 85-91. (August 1, 1994)

Tessa WEBB, Sister chromatid exchange in families with Angelman or Prader-Willi syndrome, in Clin Genet, Volume 46, Number 2, pages 181-186. (August 1, 1994)

B.A. HAGBERG, et al., Rett variants: a suggested model for inclusion criteria, in Pediatr Neurol, Volume 11, Number 1, pages 5-11. (July 1, 1994)

U. MULLER, et al., Molecular basis and diagnosis of neurogenetic disorders, in J Neurol Sci, Volume 124, Number 2, pages 119-140. (July 1, 1994)

J. COLOMER, et al., Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene, in Eur J Pediatr, Volume 153, Number 7, pages 492-494. (July 1, 1994)

Sunny LUKE, Ram S. VERMA, Radha GIRIDHARAN, Robert A. CONTE and Michael J. MACERA, Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome, in American Journal of Medical Genetics, Volume 51, Number 3, pages 232-233. (July 1, 1994)

M.A. KEDDA, et al., The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids, in American Journal of Human Genetics, Volume 54, Number 6, pages 1078-1084. (June 1, 1994)

T. SUGIMOTO, et al., Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor, in Jpn J Psychiatry Neurol, Volume 48, Number 2, pages 271-273. (June 1, 1994) (No abstract available)

A. BOTTANI, W.P. ROBINSON, C.D. DELOZIER-BLANCHET, E. ENGEL, M.A. MORRIS, B. SCHMITT, L. THUN-HOHENSTEIN and A. SCHINZEL, Angelman syndrome due to paternal uniparental disomy of chromosome 15 : A milder phenotype ?, in American Journal of Medical Genetics, Volume 51, Number 1, pages 35-40. (May 15, 1994)

Julie LEANA-COX, Lauren JENKINS, Catherine G. PALMER, Rina PLATTNER, Linda SHEPPARD, Wendy L. FLEJTER, Joleen ZACKOWSKI, Fern TSIEN and Stuart SCHWARTZ, Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications, in American Journal of Human Genetics, Volume 54, Number 5, pages 748-756. (May 1, 1994)

André REIS, Bärbel DITTRICH, Valerie GREGER, Karin BUITING, Marc LALANDE, Gabriele GILLESSEN-KAESBACH, Maria ANVRET and Bernhard HORSTHEMKE, Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes, in American Journal of Human Genetics, Volume 54, Number 5, pages 741-747. (May 1, 1994)

Robert D. NICHOLLS, New insights reveal complex mechanisms involved in genomic imprinting, in American Journal of Human Genetics, Volume 54, Number 5, pages 733-740. (May 1, 1994) (No abstract available)

C Young, PJ WANG, WY Tsai WY, and YZ Shen, Precocious puberty in a case with probable Angelman syndrome, in Brain and Development, Volume 16, Number 3, pages 249-252. (May 1, 1994)

Arabella SMITH, Z.-M. DENG, R. BERAN, T. WOODAGE and R.J. TRENT, Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome, in Human Genetics, Volume 93, pages 471-473. (April 1, 1994)

??Arabella SMITH, Angelman Syndrome: Genetic Mechanisms and Relationship to Pradder-Willi Syndrome, in Australia and New Zealand Journal of Developmental Disabilities, Volume 19, Number 4, pages 259-267. (DATE ?)

T.L. BAUMGARDNER, et al., A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations, in Curr Opin Neurol, Volume 7, Number 2, pages 172-178. (April 1, 1994)

Cymbeline T. CULIAT, Lisa J. STUBBS, Clyde S. MONTGOMERY, Liane B. RUSSELL and Eugene M. RINCHIK, Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice, in Proceedings of the National Academy of Sciences of the USA, Volume 91, Number 7, pages 2815-2818. (March 29, 1994)

G. KURLEMANN und G. SCHUIERER, [EEG in diagnosis of other disease pictures than epilepsy], in Klinische Padiatrie, Volume 206, Number 2, seite 100-107. (1. März 1994) (German)

Merlin G. BUTLER, Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?, in American Journal of Medical Genetics,. 1994 Mar 1; 50(1): 42-45. No abstract available.

Linda C. SURH, Hungshu WANG and Alasdair G.W. HUNTER, Deletion and uniparental disomy involving the same maternal chromosome 15, in N Engl J Med, Volume 330, Number 8, pages 572-573. (February 24, 1994) (No abstract available)

Seung-Taek LEE, Robert D. NICHOLLS, Sarah BUNDEY, Renata LAXOVA, Maria MUSARELLA and Richard A. SPRITZ., Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism, in N Engl J Med, Volume 330, Number 8, pages 529-534. (February 24, 1994)

Takeo KUBOTA, Norio NIIKAWA, YOSHIHIRO JINNO and Tadayuki ISHIMARU, GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans, in American Journal of Medical Genetics, Volume 49, Number 4, pages 452-453. (February 15, 1994) (No abstract available)

M. NAKAO, et al., Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E), in Hum Mol Genet, Volume 3, Number 2, pages 309-315. (February 1, 1994)

T. WOODAGE, et al., Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13, in Genomics, Volume 19, Number 1, pages 170-172. (January 1, 1994)

K. GLATT, et al., The human gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats, in Genomics, Volume 19, Number 1, pages 157-160. (January 1, 1994)

Robert D. NICHOLLS, Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome, in Hum Mol Genet, Volume 3, Number 1, pages 9-11. (January 1, 1994) (No abstract available)

S. LANGLOIS, Genomic imprinting: a new mechanism for disease, in Pediatr Pathol, Volume 14, Number 1, pages 161-165. (January 1, 1994)

H.C. BUCKLE, et al., [Angelman syndrome], in Nurs RSA, Volume 9, Number 1, pages 26-27. (January 1, 1994) (Afrikaans) (No abstract available)

Joan H.M. KNOLL, Sou-De CHENG and Marc LALANDE, Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region, in Nature Genetics, Volume 6, Number 1, pages 41-46. (January 1, 1994)

T.J. EKSTROM, Parental imprinting and the IGF2 gene, in Horm Res, Volume 42, Number 4-5, pages 176-181. (January 1, 1994)

Masashi MIZUGUCHI, Keiko TSUKAMOTO, Yoshiyuki SUZUKI and Yasuo NAKAGOME, Myoclonic epilepsy and a maternally derived deletion of 15pter-q13, in Clinical Genetics, Volume 45, Number 1, pages 44-47. (1994) (No abstract available)

1993


A. MUTIRANGURA, et al., A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene, in Genomics, Volume 18, Number 3, pages 546-552. (December 1, 1993)

C.C. GLENN, et al., Functional imprinting and epigenetic modification of the human SNRPN gene, in Hum Mol Genet, Volume 2, Number 12, pages 2001-2005. (December 1, 1993)

Karin BUITING, et al., Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene, in Hum Mol Genet, Volume 2, Number 12, pages 1991-1994. (December 1, 1993)

S.P. SCULLY, et al., Association of metatarsus adductovarus (skew foot) with Angelman's (Happy Puppet) syndrome, in Orthopedics, Volume 16, Number 11, pages 1270-1273. (November 1, 1993) (No abstract available)

Shinji SAITOH, [DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome], in No To Hattatsu, Volume 25, Number 6, pages 501-507. (November 1, 1993) (Japanese)

C. T. J. CHAN, Jill CLAYTON-SMITH, X. J. CHENG, et als., Molecular mechanisms in Angelman syndrome : a survey of 93 patients, in Journal of Medical Genetics, Volume 30, Number __, pages 895-902. (November 1, 1993)

Jill CLAYTON-SMITH, Daniel J. DRISCOLL, Michael F. WATERS, Tessa WEBB, Tony ANDREWS, Sue MALCOLM, Marcus E. PEMBREY and Robert D. NICHOLLS, Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome, in American Journal of Medical Genetics, Volume 47, Number 5, pages 683-686. (October 1, 1993)

Shinji SAITOH, et al., [The GABAA receptor beta 3-subunit gene (GABRB3) as a candidate responsible for central nerve disturbances in Angelman syndrome], in Nippon Rinsho, Volume 51, Number 9, pages 2409-2413. (September 1, 1993) (Japanese)

W.P. ROBINSON, et al., Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome, in J Med Genet, Volume 30, Number 9, pages 756-760. (September 1, 1993)

W.P. ROBINSON, et al., Nondisjunction of chromosome 15: origin and recombination, in American Journal of Human Genetics, Volume 53, Number 3, pages 740-751. (September 1, 1993)

T. TOHMA et al., Cosmid clones from microdissected human chromosomal region 15q11-q13, in Jpn J Hum Genet, Volume 38, Number 3, pages 267-275. (September 1, 1993)

C.C. GLENN, et al, Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients, in Hum Mol Genet, Volume 2, Number 9, pages 1377-1382. (September 1, 1993)

L.G. SHAFFER, et al., Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome, in American Journal of Medical Genetics, Volume 47, Number 3, pages 383-386. (September 1, 1993)

P. MALZAC, et al., Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach, in Neuromuscul Disord, Volume 3, Number 5-6, pages 493-496. (September 1, 1993)

Yoshimichi NAKATSU, Rachel F. TYNDALE, Timothy M. DELOREY, Donna DURHAM-PIERRE, John M. GARDNER, Heather J. MCDANEL, Q. NGUYEN, Joseph WAGSTAFF, Marc LALANDE, James M. SIKELA, Richard W. OLSEN, Allan J. TOBIN and Murray H. BRILLIANT, A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus, in Nature, Volume 364, Number 6436, pages 448-450. (July 29, 1993)

R.J. TRENT, Contiguous gene syndromes and small chromosome abnormalities, in Med J Aust, Volume 159, Number 2, pages 128-131. (July 19, 1993) (No abstract available)

B.B. SCHNEIDER, et al., Angelman syndrome, in J Am Optom Assoc, Volume 64, Number 7, pages 502-506. (July 1, 1993)

K. GUCUYENER, et al., Regional cerebral blood flow in Angelman syndrome, in Eur J Nucl Med, Volume 20, Number 7, pages 645-647. (July 1, 1993)

Valerie GREGER, et al., Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient, in Hum Mol Genet, Volume 2, Number 7, pages 921-924. (July 1, 1993)

Tristan C. CAMPOS, et al., [Angelman syndrome. Early diagnosis], in An Esp Pediatr, Volume 39, Number 1, pages 25-28. (July 1, 1993) (Spanish)

Joseph WAGSTAFF, Y.Y. Shugart, and Marc LALANDE, Linkage Analysis in Familial Angelman syndrome, in American Journal of Human Genetics, Volume 53, Number 1, pages 105-112. (July 1, 1993) [Abstract]

N. JOLLEFF, M. M. RYAN, Communication development in Angelman's syndrome, in Archives of Disease in Childhood, Volume 69, Number 1, pages 148-150. (July 1, 1993)

Z.M. DENG, et al., Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome, in Med J Aust, Volume 158, Number 12, pages 813-816. (June 21, 1993)

C.G. WOODS, et al., The role of genomic imprinting, in Med J Aust, Volume 158, Number 12, pages 801-802. (June 21, 1993) (No abstract available)

E.H. KOLODNY, Dysmyelinating and demyelinating conditions in infancy, in Curr Opin Neurol Neurosurg, Volume 6, Number 3, pages 379-386. (June 1, 1993)

D. SINNETT, et al., High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients, in American Journal of Human Genetics, Volume 52, Number 6, pages 1216-1229. (June 1, 1993)

L.A. PEREZ JURADO, [Molecular advances in "non-mendelian" genetics. Implications for pediatrics], in An Esp Pediatr, Volume 38, Number 6, pages 479-487. (June 1, 1993) (Spanish) (No abstract available)

Robert D. NICHOLLS, Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes, in Curr Opin Genet Dev, Volume 3, Number 3, pages 445-456. (June 1, 1993)

Jill CLAYTON-SMITH, Clinical research on Angelman syndrome in the United Kingdom : observations on 82 affected individuals, in American Journal of Medical Genetics, Volume 46, Number 1, 1993, pages 12-15.

Jill CLAYTON-SMITH, et al., Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome, in J Med Genet, Volume 30, Number 6, pages 529-531. (June 1, 1993)

L.R. SHAPIRO, et al., Cytogenetic diagnosis of genetic diseases, in Pediatr Ann, Volume 22, Number 5, pages 298-303. (May 1, 1993) (No abstract available)

B. DELLAPICCOLA, et al., [Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes], in Pediatr Med Chir, Volume 15, Supplement 1, pages 10-13. (May 1, 1993) (Italiano)

Charles A. WILLIAMS, Papers presented at the 2nd North American Conference on Angelman Syndrome (Orlando, Florida, August 1-4, 1991): Introduction, in American Journal of Medical Genetics, Volume 46, Number 1, page 1. (April 1, 1993) (No abstract available)
Joan H.M. KNOLL, Joseph WAGSTAFF and Marc LALANDE, Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview, in American Journal of Medical Genetics, Volume 46, Number 1, pages 2-6 and 47. (April 1, 1993)

J.L. ZACKOWSKI, Robert D. NICHOLLS, B.A. GRAY, A. BENT-WILLIAMS, W. GOTTLIEB, P.J. HARRIS, M.F. WATERS, D.J. DRISCOLL, Roberto T. ZORI and Charles A. WILLIAMS, Cytogenetic and molecular analysis in Angelman syndrome, in American Journal of Medical Genetics, Volume 46, Number 1, pages 7-11. (April 1, 1993)

Jill CLAYTON-SMITH, Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals, in American Journal of Medical Genetics, Volume 46, Number 1, pages 12-15. (April 1, 1993)

Robert D. NICHOLLS, Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review, in American Journal of Medical Genetics, Volume 46, Number 1, pages 16-25 and 48-49. (April 1, 1993)

Christiana M. LEONARD, Charles A. WILLIAMS, Robert D. NICHOLLS, O. Frank AGEE, Kytja K.S. VOELLER, Janice C. HONEYMAN and Edward V. STAAB, Angelman and Prader-Willi syndrome: A magnetic resonance imaging study of differences in cerebral structure, in American Journal of Medical Genetics, Volume 46, Number 1, pages 26-33. (April 1, 1997)

Kandace A. PENNER, Joy JOHNSTON, Barbara H. FAIRCLOTH, Patricia IRISH and Charles A. WILLIAMS, Communication, cognition and social interaction in the Angelman syndrome, in American Journal of Medical Genetics, Volume 46, Number 1, pages 34-39. (April 1, 1993)

Richard A. KING, Georgia L. WIESNER, DeWayne TOWNSEND and James G. WHITE, Hypopigmentation in Angelman syndrome, in American Journal of Medical Genetics, Volume 46, Number 1, pages 40-44. (April 1, 1993)

Bärbel DITTRICH, et al., Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13, in Genomics, Volume 16, Number 1, pages 269-271. (April 1, 1993)

M.J. DURCAN and D. GOLDMAN, Genomic imprinting: implications for behavioral genetics, in Behav Genet, Volume 23, Number 2, pages 137-143. (March 1, 1993)

Wendy P. ROBINSON, Roland SPIEGEL and Albert A. SCHINZEL, Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination, in Hum Genet, Volume 91, Number 2, pages 181-184. (March 1, 1993)

H.P. HENDERSON, Angelman syndrome, in Br J Plast Surg, Volume 46, Number 2, pages 175-176. (March 1, 1993) (No abstract available)

S.B. FREEMAN, K.M. MAY, D. PETTAY, P.M. FERNHOFF and T.J. HASSOLD, Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome, in American Journal of Medical Genetics, Volume 45, Number 5, pages 625-630. (March 1, 1993)

Robert D. NICHOLLS, Wayne GOTTLIEB, Liane B. RUSSELL, Michele DAVDA, Bernhard HORSTHEMKE and Eugene M. RINCHIK, Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse, in Proceedings of the National Academy of Sciences of the USA, Volume 90, Number 5, pages 2050-2054. (March 1, 1993)

A. MUTIRANGURA, et al., Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy, in Hum Mol Genet, Volume 2, Number 2, pages 143-151. (February 1, 1993)

Joan H.M. KNOLL, et al., FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions, in Hum Mol Genet, Volume 2, Number 2, pages 183-189. (February 1, 1993)

André REIS, Jürgen KUNZE, Ladislaus LADANYI, Herbert ENDERS, Ute KLEIN-VOGLER and Gerhard NIEMANN, Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene, in Lancet, Volume 341, Number 8837, pages 122-123. (January 9, 1993) (No abstract available)

Eugene M. RINCHIK, Scott J. BULTMAN, Bernhard HORSTHEMKE, Seung-Taek LEE, Kathleen M. STRUNK, Richard A. SPRITZ, Karen M. AVIDANO, Michelle T.C. JONG and Robert D. NICHOLLS, A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism, in Nature, Volume 361, Number 6407, pages 72-76. (January 7, 1993)

T. WEBB, et al., Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family, in Genet Couns, Volume 4, Number 1, pages 1-6. (January 1, 1993)

M. de la L. ARENAS-SORDO, et al., [Angelman's syndrome (happy puppet) in 2 siblings. A follow-up over 10 years], in Bol Med Hosp Infant Mex, Volume 50, Number 1, paginas 48-52. (1 januero 1993) (Spanish)

C. STOLL, et al., Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome, in Genet Couns, Volume 4, Number 2, pages 153-156. (January 1, 1993)

M.S. MURTAZAEV, et al., [The Prader-Willi syndrome], in Zh Nevropatol Psikhiatr Im S S Korsakova, Volume 93, Number 5, (January 1, 1993) (Russian) (No abstract available)

Marc LALANDE, et al., Mapping of the Angelman and Prader-Willi syndromes, in Prog Clin Biol Res, Number 384, pages 225-234. (January 1, 1993) (No abstract available)

Joke BEUTEN, Kathelijne MANGELSCHOTS, Inge BUNTINX, Paul COUCKE, Oebele F. BROUWER, Raoul C. M. HENNEKAM, Christine VAN BROECKHOVEN and Patrick J. WILLEMS, Molecular study of chromosome 15 in 22 patients with Angelman syndrome, in Hum Genet, Volume 90, Number 5, pages 489-495. (January 1, 1993)

W.P. ROBINSON, et al., Increased parental ages and uniparental disomy 15: a paternal age effect?, in Eur J Hum Genet, Volume 1, Number 4, pages 280-286. (January 1, 1993)

W.P. ROBINSON, et al., Clinical and molecular analysis of five inv dup(15) patients, in Eur J Hum Genet, Volume 1, Number 1, pages 37-50. (January 1, 1993)

1992


D. SOLTER, Relevance of genomic imprinting to human diseases, in Curr Opin Biotechnol, Volume 3, Number 6, pages 632-636. (December 1, 1992)

T. WEBB, et al., Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13, in J Med Genet, Volume 29, Number 12, pages 921-924. (December 1, 1992)

E.J. MEIJERS-HEIJBOER, et al., Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome, in J Med Genet, Volume 29, Number 12, pages 853-857. (December 1, 1992)

B.M. CATTANACH, et al., A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression, in Nature Genetics, Volume 2, Number 4, pages 270-274. (December 1, 1992)

Bärbel DITTRICH, Wendy P. ROBINSON, Hans KNOBLAUCH, Karin BUITING, Kerstin SCHMIDT, Gabriele GILLESSEN-KAESBACH and Bernhard HORSTHEMKE, Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13, in Hum Genet, Volume 90, Number 3, pages 313-315. (November 1, 1992)

Vijay TONK, et al., Deletion of 15q12 in Angelman syndrome: report of 3 new cases, in Clin Genet, Volume 42, Number 5, pages 229-233. (November 1, 1992)

A. MATSUMOTO, et al., Epilepsy in Angelman syndrome associated with chromosome 15q deletion, in Epilepsia, Volume 33, Number 6, pages 1083-1090. (November 1, 1992)

T. SUGIMOTO, et al., Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities, in Epilepsia, Volume 33, Number 6, pages 1078-1082. (November 1, 1992)

P.D. SINGHI, Angelman's "happy puppet" syndrome, in Indian Pediatr, Volume 29, Number 11, pages 1424-1426. (November 1, 1992) (No abstract available)

P.F. PIGNATTI, et al., Tracking disease genes by reverse genetics, in J Psychiatr Res, Volume 26, Number 4, pages 287-298. (October 1, 1992)

D.A. GRAHAM, et al., Neuroendocrine protein 7B2 in Prader-Willi syndrome, in Aust N Z J Med, Volume 22, Number 5, pages 455-457. (October 1, 1992)

M. RAMSAY, et al., The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12, in American Journal of Human Genetics, Volume 51, Number 4, pages 879-884. (October 1, 1992)

Robert D. NICHOLLS, Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome, in Ann Neurol, Volume 32, Number 4, pages 512-518. (October 1, 1992)

Jill CLAYTON-SMITH, Tessa WEBB, S.A. ROBB, I. DIJKSTRA, P. WILLEMS, S. LAM, X-J CHENG, M.E. PEMBREY and S. MALCOLM, Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome, in American Journal of Medical Genetics, Volume 44, Number 2, pages 256-260. (September 15, 1992)

Ingo KENNERKNECHT, A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome, in Hum Genet, Volume 90, Number 1-2, pages 91-98. (September 1, 1992)

A. KUWANO, et al., Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis, in Hum Mol Genet, Volume 1, Number 6, pages 417-425. (September 1, 1992)

J.M. GARDNER, et al., The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes, in Science, Volume 257, Number 5073, pages 1121-1124. (August 21, 1992)

J.A. SUMMERS, et al., A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome, in J Dev Behav Pediatr, Volume 13, Number 4, pages 284-287. (August 1, 1992)

D.J. DRISCOLL, et al., A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes, in Genomics, Volume 13, Number 4, pages 917-924. (August 1, 1992)

Roberto T. ZORI, J. HENDRICKSON, S. WOOLVEN, E.M. WHIDDEN, B. GRAY and Charles A. WILLIAMS, Angelman syndrome : clinical profile, in J Child Neuro, Volume 7, Number 3, pages 27_-280. (July 1, 1992)

Jill CLAYTON-SMITH, Angelman's syndrome, in Arch Dis Child, Volume 67, Number 7, pages 889-890. (July 1, 1992) (No abstract available)

Joseph WAGSTAFF, Joan H.M. KNOLL, K.A. GLATT, Y.Y. SHUGART, A. SOMMER and Marc LALANDE, Maternal but not paternal Transmission of 15q11-13 Linked Nondeletion Angelman syndrome leads to Phenotypic Expression, in Nature Genetics, Volume 1, Number 4, pages 291-294. (July 1, 1992) [Abstract]

Karin BUITING, Valerie GREGER, Bernhard H. BROWNSTEIN, Rose M. MOHR, Ion VOICULESCU, Andreas WINTERPACHT, Bernhard ZABEL and Bernhard HORSTHEMKE, A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes, in Proceedings of the National Academy of Sciences of the USA, Volume 89, Number 12, pages 5457-5461. (June 15, 1992)

Jill CLAYTON-SMITH and Marcus E. PEMBREY, Angelman Syndrome, in Journal of Medical Genetics, Volume 29, Number 6, 1992, pages 412-415. (June 1, 1992) (No abstract available)

Kathelijne MANGELSCHOTS, Bernadette VAN ROY, Frank SPELEMANN, Nadine VAN ROY, Jan GHEUENS, Joke BEUTEN, Inge BUNTINX, Marie-Noëlle VAN THIENEN, Herman WILLEKENS, Jan DUMON, Berten CEULEMANS and Patrick J. WILLEMSReciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis, in Hum Genet, Volume 89, Number 4, pages 407-413. (June 1, 1992)

M. RITZEN, et al., [Prader-Willi syndrome or Angelman syndrome? A question of maternal or paternal chromosome 15], in Lakartidningen, Volume 89, Number 22, pages 1985-1986. (May 27, 1992) (Swedish) (No abstract available)

A. MUTIRANGURA, et al., Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15, in Hum Mol Genet, Volume 1, Number 2, page 139. (May 1, 1992) (No abstract available)

A. MUTIRANGURA, et al., Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15, in Hum Mol Genet, Volume 1, Number 1, page 67. (April 1, 1992) (No abstract available)

Dominique F. C. M. SMEETS, Ben C. J. HAMEL, Marcle R. NELEN, Hubertus J.M. SMEETS, Josephus H.M. BOLLEN, Arie P.T. SMITS, Hans-Hilger ROPERS and Bernard A. VAN OOST, Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15, in N Engl J Med, Volume 326, Number 12, pages 807-811. (March 19, 1992) (No abstract available)

Shinji SAITOH, Takeo KUBOTA, Tohru OHTA, Yoshihiro JINNO, Norio NIIKAWA, Tateo SUGIMOTO, Joseph WAGSTAFF and Marc LALANDE, Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene, in Lancet, Volume 339, Number 8789, pages 366-367. (February 8, 1992) (No abstract available)

Jill CLAYTON-SMITH, T. WEBB, M.E. PEMBREY, M. NICHOLLS and S. MALCOLM, Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome, in Hum Genet, Volume 88, Number 4, pages 376-378. (February 1, 1992)

M. HULTEN, et al., Molecular cytogenetics of Prader-Willi and Angelman syndromes, in Lancet, Volume 339, Number 8787, pages 243-244. (January 25, 1992) (No abstract available)

Albert SCHINZEL, Wendy P. ROBINSON, Armand BOTTANI, Xie YAGANG and Andrea PRADER, Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?, in Hum Genet, Volume 88, Number 3, pages 361-362. (January 1, 1992) (No abstract available)

T. KYRIAKIDES, et al., Angelman's syndrome: a neuropathological study, in Acta Neuropathol (Berl), Volume 83, Number 6, pages 675-678. (January 1, 1992)

M.H. BRILLIANT, The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito, in Mamm Genome, Volume 3, Number 4, pages 187-191. (January 1, 1992)

T.A. DONLON, Report of the first international workshop on human chromosome 15 mapping, in Cytogenet Cell Genet, Volume 61, Number 3, pages 162-166. (January 1, 1992) (No abstract available)

Joseph WAGSTAFF, et al., The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7, in Genomics, Volume 11, Number 4, pages 1071-1078. (December 1, 1991) [Medline's Abstract]

M.G. BUTLER, et al., Molecular cytogenetics of Prader-Willi and Angelman syndromes, in Lancet, Volume 338, Number 8777, page 1276. (November 16, 1991) (No abstract available)

J.R. CHAILLET, et al., The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7, in Genomics, Volume 11, Number 3, pages 773-776. (November 1, 1991) [Medline's Abstract]

A. KUWANO, et al., Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization, in American Journal of Human Genetics, Volume 49, Number 4, pages 707-714. (October 1, 1991) [Medline's Abstract]

Jun-ichi HAMABE, Yoshikazu KUROKI, Kiyoshi IMAIZUMI, Tateo SUGIMOTO Yoshimitsu FUKUSHIMA, Atsuko YAMAGUCHI, Yoshinori IZUMIKAWA and Norio NIIKAWA, DNA deletion and its parental origin in Angelman syndrome patients, in American Journal of Medical Genetics, Volume 41, Number 1, pages 64-68. (October 1, 1991) [Medline's Abstract]

A.J. KIRKILIONIS, et al., Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes, in American Journal of Medical Genetics, Volume 40, Number 4, pages 454-459. (September 15, 1991) [Medline's Abstract]

M. HULTEN, et al., Genomic imprinting in an Angelman and Prader-Willi translocation family, in Lancet, Volume 338, Number 8767, pages 638-639. (September 7, 1991) (No abstract available)

E. ENGEL, Chromosome 15 uniparental disomy is not frequent in Angelman syndrome, in American Journal of Human Genetics, Volume 49, Number 2, pages 459-460. (August 1, 1991) (No abstract available)

Joseph WAGSTAFF, et al., Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15, in American Journal of Human Genetics, Volume 49, Number 2, pages 330-337. (August 1, 1991) [Medline's Abstract]

A.M. LUND, [The Angelman syndrome. Does the phenotype depend on maternal inheritance?], in Ugeskr Laeger, Volume 153, Number 28, pages 1993-1998. (July 8, 1991) (Danish) [Medline's Abstract]

Kenji NARITOMI, On the genetic imprinting suggested in Angelman syndrome, in American Journal of Medical Genetics, Volume 39, Number 4, page 497. (June 15, 1991) (No abstract available)

Charles A. WILLIAMS and Roberto T. ZORI, Response to DR. Naritomi, in American Journal of Medical Genetics, Volume 39, Number 4, pages 495-496. (June 15, 1991) (No abstract available)

J. HENDRICKSON, L. MARFATIA, K. KOVAK, E. MAGENIS and Charles A. WILLIAMS, Genetic counseling for Angelman syndrome when the proband has a cytogenetic or molecular deletionat the International Conference on Prader-Willi syndrome and other Chromosome 15q Deletion Disorders, De Leewenhorst Congress Center, Noordwijkerhout, the Netherlands, May 1991.

Susan MALCOLM, Jill CLAYTON-SMITH, M. NICHOLS, S. ROBB, et als., Uniparental paternal disomy in Angelman's syndrome, in Lancet, Volume 337, Number 8743, pages 694-697. (March 23, 1991) [Medline's Abstract]

F. GALAN, et al., Interstitial 15q deletion without a classic Prader-Willi phenotype, in American Journal of Medical Genetics, Volume 38, Number 4, pages 532-534. (March 15, 1991) [Medline's Abstract]

V. JAY, L.E. BECKER, F.W. CHAN and T.L. PERRY Sr, Puppet-like syndrome of Angelman : a pathologic and neurochemical study, in Neurology, Volume 41, Number 3, pages 416-422. (March 1, 1991) [Medline's Abstract]

Jill CLAYTON-SMITH, Alpha-feroprotein in Angelman syndrome [letter; comment], in Developmental Medecine & Child Neurology, Volume 33, Number 2, 1991, pages 182-183. (February 1, 1991) (No abstract available) [Medline's Abstract]

Julie Shapiro FRYBURG, W. Roy BREG and Valerie LINDGREN, Diagnosis of Angelman syndrome in infants, in American Journal of Medical Genetics Volume 38, Number 1, pages 58-64. (January 1, 1991) [Medline's Abstract]

Joan H.M. KNOLL, et al., Chromosome 15 uniparental disomy is not frequent in Angelman syndrome, in American Journal of Human Genetics, Volume 48, Number 1, pages 16-21. (January 1, 1991) [Medline's Abstract]

1990


M.A. GREENSTEIN, Prader-Willi and Angelman syndromes in one kindred with expression consistent with genetic imprinting, in American Journal of Human Genetics, Volume 47, Supplement, page A59. (?DATE 1990)

A. VAN LIERDE, et al., Angelman's syndrome in the first year of life, in Developmental Medecine & Child Neurology, Volume 32, Number 11, pages 1011-1016. (November 1, 1990) [Medline's Abstract]

K.A. YAMADA and J.J. VOLPE, Angelman's syndrome in infancy, in Developmental Medecine & Child Neurology, Volume 32, Number 11, pages 1005-1011. (November 1, 1990) [Medline's Abstract]

Roberto T. ZORI, et al., Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes, in American Journal of Medical Genetics, Volume 37, Number 2, pages 294-295. (October 1, 1990) (No abstract available)

M. SHOHAT, T. SHOHAT, D.L. RIMOIN, T. MOHANDAS, J. HECKENLIVELY, R.E. MAGENIS, M.B. DAVIDSON and J.R. KORENBERG, Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother, in American Journal of Medical Genetics, Volume 37, Number 2, pages 173-177. (October 1, 1990) [Medline's Abstract]

R. KALMANCHEY, et al., [The Angelman or "happy puppet" syndrome], in Orv Hetil, Volume 131, Number 39, pages 2151-2154. (September 30, 1990) (Hungarian) [Medline's Abstract]

Judith G. HALL, Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells, in American Journal of Medical Genetics, Volume 36, Number 3, page 369. (July 1, 1990) (No abstract available)

Charles A. WILLIAMS, Reply to Dr. Hall, in American Journal of Medical Genetics, Volume 36, Number 3, page 370. (July 1, 1990) (No abstract available)

Charles A. WILLIAMS and J.L. FRIAS, Angelman syndrome, in Birth Defects Encyclopedia (3rd Edition of the Birth Defects Compendium ), Cambridge (Massachussetts), Blackwell Scientific Publications, 1990, pages 140-141.

Norio NIIKAWA, Contiguous gene syndromes as multiple anomalies syndromes: Molecular basis and approach to gene cloning, in Cong. Anom., Volume 30, pages 317-333. (1990) [Original Abstract]

Joan H.M. KNOLL, Robert D. NICHOLLS, RE MAGENIS, K Glatt et al, Angelman syndrome : three molecular classes identified with chromosome 15q11q13-specific DNA markers, in American Journal of Human Genetics, Volume 47, Number 1, pages 149-155. (July 1, 1990) [Medline's Abstract]

Oebele F. BROUWER, et al., [Angelman's happy puppet syndrome], in Tijdschr Kindergeneeskd, Volume 58, Number 3, pages 89-91. (June 1, 1990) (Nederlands-Dutch) [Medline's Abstract]

H.J. LUDECKE, et al., Construction and characterization of band-specific DNA libraries, in Hum Genet, Volume 84, Number 6, pages 512-516. (May 1, 1990) [Medline's Abstract]

I. SCHEFFER, et al., Angelman's syndrome, in J Med Genet, Volume 27, Number 4, pages 275-276. (April 1, 1990) (No abstract available)

A.J. DICKINSON, A.R. FIELDER, I.D. YOUNG and D.P. DUCKETT, Ocular findings in Angelman's (happy puppet) syndrome, in Ophthalmic Paediatr Genet, Volume 11, Number 1, pages 1-6. (March 1, 1990) [Medline's Abstract]

M.G. MATTEI, et al, Assignment of the gene for neuroendocrine protein 7B2 (SGNE1 locus) to mouse chromosome region 2[E3-F3] and to human chromosome region 15q11-q15, in Genomics, Volume 6, Number 3, pages 436-440. (March 1, 1990) [Medline's Abstract]

Charles A. WILLIAMS, Roberto T. ZORI, J.W. STONE, B.A. GRAY, E.S. CANTU and H. OSTRER, Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting, in American Journal of Medical Genetics, Volume 35, Number 3, pages 350-353. (March 1, 1990) [Medline's Abstract]

R.E. MAGENIS, S. TOTH-FEJEL, L.J. ALLEN, M. BLACK, M.G. BROWN, S. BUDDEN, R. COHEN, J.M. FRIEDMAN, D. KALOUSEK, J. ZONANA, D. LACY, S. LAFRANCHI, M. LAHR, J. MACFARLANE and C.P.S. WILLIAMS, Comparison of the 15q deletions in Prader-Willi and Angelman syndromes : specific regions, extent of deletions, parental origin, and clinical consequences, in American Journal of Medical Genetics, Volume 35, Number 3, pages 333-349. (March 1, 1990) [Medline's Abstract]

Kiyoshi IMAIZUMI, Fumio TAKADA, Yoshikazu KUROKI, Kenji NARITOMI, Junichi HAMABE and Norio NIIKAWA, Cytogenetic and molecular study of Angelman syndrome, in American Journal of Medical Genetics, Volume 35, Number 3, pages 314-318. (March 1, 1990) [Medline's Abstract]

S. MALCOLM, T. WEBB, P. RUTLAND, H. R. MIDDLETON-PRICE and M. E. PEMBREY, Molecular genetic studies of Angelman's syndrome, in J Med Genet, Volume 27, Number __, page 205. (?DATE 1990)

J.G. HALL, Angelman's syndrome, abnormality of 15q11-13, and imprinting, in J Med Genet, Volume 27, Number 2, page 141. (February 1, 1990) (No abstract available)

J.P. FRYNS, A. KLECZOWSKA, P. DECOCK and H. VAN DEN BERGHE, Angelman's syndrome and 15q11-q13 deletion, in Genet Couns, Volume 1, Number 1, pages 57-62. (January 1, 1990) [Medline's Abstract]

1989


Robert D. NICHOLLS, Joan H.M. KNOLL, Merlin G. BUTLER, Susan KARAM and Marc LALANDE, Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome, in Nature, Volume 342, Number 6247, pages 281-285. (November 16, 1989) [Medline's Abstract]

S.A. ROBB, A. HARDEN and S.G. BOYD, Rett syndrome: an EEG study in 52 girls, in Neuropediatrics, Volume 20, Number 4, pages 192-195. (November 1, 1989) [Medline's Abstract]

Joan H.M. KNOLL, Robert D. NICHOLLS and Marc LALANDE, On the parental origin of the deletion in Angelman syndrome, in Hum Genet, Volume 83, Number 2, pages 205-206. (September 1, 1989) (No abstract available)

Timothy A. DONLON, Reply to letter by Knoll et al., in Hum Genet, Volume 83, Number 2, page 207. (September 1, 1989) (No abstract available)

J.P. FRYNS, A. KLECZKOWSKA, P. DECOCK and H. VAN DEN BERGHE, Angelman's syndrome and 15q11-13 deletions, in J Med Genet, Volume 26, Number 8, page 538. (August 1, 1989) (No abstract available)

A. COOKE, J.L. TOLMIE, F.J. GLENCROSS, E. BOYD, M.M. CLARKE, R. DAY J.B. STEPHENSON and J.M. CONNOR, Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry, in American Journal of Medical Genetics, Volume 32, Number 4, pages 545-549. (April 1, 1989) [Medline's Abstract]

S. GANJI and M.C. DUNCAN, Angelman's (happy puppet) syndrome: clinical, CT scan and serial electroencephalographic study, in Clin Electroencephalogr, Volume 20, Number 2, pages 128-140. (April 1, 1989) [Medline's Abstract]

Charles A. WILLIAMS, Brian A. GRAY, Jill E. HENDRICKSON, John W. STONE and Eduardo S. CANTÚ, Incidence of 15q deletions in the Angelman syndrome : a survey of twelve affected persons, in American Journal of Medical Genetics, Volume 32, Number 3, March 1989, pages 339-345. (March 1, 1989) [Medline's Abstract]

Charles A. WILLIAMS, Jill E. HENDRICKSON, Eduardo S. CANTÚ and Timothy A. DONLON, Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother, in American Journal of Medical Genetics, Volume 32, Number 3, pages 333-338. (March 1, 1989) [Medline's Abstract]

Marcus E. PEMBREY, S.J. FENNELL, J. VAN DEN BERGHE, M. FITCHETT, D. SUMMERS, L. BUTLER, C. CLARKE, M. GRIFFITHS, E. THOMPSON, M. SUPER and M. BARAITSER, The association of Angelman's syndrome with deletions within 15q11-13, in Journal of Medical Genetics, Volume 26, Number 2, pages 73-77. (February 1, 1989) [Medline's Abstract]

Joan H.M. KNOLL, Robert D. NICHOLLS, R.E. MAGENIS, J.M. GRAHAM Jr, Marc LALANDE and S.A. LATT, Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion, in American Journal of Medical Genetics, Volume 32, Number 2, pages 285-290. (February 1, 1989) [Medline's Abstract]

S.A. ROBB, K.R. POHL, M. BARAITSER, J. WILSON and E.M. BRETT, The 'happy puppet' syndrome of Angelman : review of the clinical features, in Archives of Disease in Childhood, Volume 64, Number 1, pages 83-86. (January 1, 1989) [Medline's Abstract]

1988


T.A. DONLON, Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes, in Hum Genet, Volume 80, Number 4, pages 322-328. (December 1, 1988) [Medline's Abstract]

A. DORRIES, H.L. SPOHR and J. KUNZE, Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature, in Eur J Pediatr, Volume 148, Number 3, P. 270-273. (December 1, 1988) [Medline's Abstract]

A. COOKE, J.L. TOLMIE, F.J. GLENCROSS, E. BOYD, M.M. CLARKE, R. DAY J.B. STEPHENSON and J.M. CONNOR, Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry, in American Journal of Medical Genetics, Volume 25, Number _, page 642. (?DATE 1988)

A. J. DICKINSON, A. R. FIELDER, D. P. DUCKETT, I. D. YOUNG, Ocular and genetic findings in Angelman's syndrome, in Journal of Medical Genetics, Volume 25, Number _, page 642. (?DATE 1988)

A. SCHINZEL, Microdeletion syndromes, balanced translocations, and gene mapping, in Journal of Medical Genetics, Volume 25, Number 7, pages 454-462. (July 1, 1988) [Medline's Abstract]

S.G. BOYD, A. HARDEN and M.A. PATTON, The EEG in early diagnosis of the Angelman (happy puppet) syndrome, in Eur J Pediatr, Volume 147, Number 5, pages 508-513. (June 1, 1988) [Medline's Abstract]

R. Ellen MAGENIS, S. TOTH-FEJEL, L. J. ALLEN, R. COHEN, M. LAHR, J. MACFARLANE, M. BLACK, Deborah A. LACY and Michael G. BROWN, Angelman happy puppet and Preder Willi syndromes: do they share an identical deletion?, in American Journal of Human Genetics, Volume 43, Supplement, page A113. (?DATE 1988)

Charles A. WILLIAMS, Timothy A. DONLON, B. A. GRAY, J. W. STONE, J. E. HENDRICKSON and Eduardo S. CANTU, Incidence of 15q deletions in the Angelman syndrome : a survey of 14 affected persons, in American Journal of Human Genetics, Volume 43, Supplement, page A75. (?DATE 1988)

Marcus E. PEMBREY, S.J. FENNELL, J. VAN DEN BERGHE, M. FITCHETT, D. SUMMERS, L. BUTLER, C. CLARKE, M. GRIFFITHS, E. THOMPSON, M. SUPER and M. BARAITSER, The association of Angelman's syndrome with deletions within 15q11-13, in Journal of Medical Genetics, Volume 25, Number __, page 274. (?DATE 1988)

1987


R. Ellen MAGENIS, Michael G. BROWN, Deborah A. LACY, Sarojini BUDDEN and Stephen LAFRANCHI, Is Angelman syndrome an alternate result of del(15)(q11q13)?, in American Journal of Medical Genetics, Volume 28, Number 1, pages 829-838. (December 1, 1987) [Medline's Abstract]

L.C. KAPLAN, R. WHARTON, E. ELIAS, F. MANDELL, T. DONLON and S.A. LATT, Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance, in American Journal of Medical Genetics, Volume 28, Number 1, pages 45-53. (September 1, 1987) [Medline's Abstract]

P.J. WILLEMS, I. DIJKSTRA, Oebele F. BROUWER and P.G. SMIT, Recurrence risk in the Angelman ('Happy Puppet') syndrome, in American Journal of Medical Genetics, Volume 27, Number 4, p.773-780. (August 1, 1987) [Medline's Abstract]

M. BARAITSER, M. PATTON, S.T.S. LAM, E.M. BRETT and J. WILSON, The Angelman (happy puppet) syndrome : Is it autosomal recessive ?, in Clin Genet, Volume 31, Number 5, pages 323-330. (May 1, 1987) [Medline's Abstract]

J.A. FISHER, J. BURN, F.W. ALEXANDER and D. GARDNER-MEDWIN, Angelman (happy puppet) syndrome in a girl and her brother, in Journal of Medical Genetics, Volume 24, Number 5, pages 294-298. (May 1, 1987) [Medline's Abstract]

1986


M.G. BUTLER, J.F. MEANEY and C.G. PALMER, Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome, in American Journal of Medical Genetics, Number 23, pages 793-809. (1986) (No abstract available)

D.J. CREEL, C.M. BENDEL, J.G.L. WIESNER, J.D. WIRTSCHAFTER, et als., Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation, in N Engl J Med, Number 314, pages 1606-1609. (1986) (No abstract available)

S.I. PASCUAL PASCUAL, R. TULLOT CAMPOS, B. ESCUDERO y R. GARCIA SIMON, [Happy puppet or Angelman's syndrome: Review apropos of 3 cases], in An Esp Pediatr, Volumen 24, Numero 5, pages 311-316. (1 Mayo 1986) (Español) [Medline's Abstract]

S.W. EBER, S. JOOST and M. GABRIEL, [Angelman syndrome], in Monatsschr Kinderheilkd, Volume 134, Nummer 3, s. 158-160. (1. März 1986) (German) [Medline's Abstract]

I. DIJKSTRA, P. J. WILLEMS, Oebele F. BROUWER and A. S. P. M. BREED, Two siblings with Angelman's "happy puppet" syndrome, in 7th Int. Cong. Hum. Genet., Berlin, page 281. (?DATE 1986)

1985


B. M. CATTANACH and M. KIRK, Differential activity of maternally and paternally derived chromosome regions in mice, in Nature, Volume 315, Number ____, pages 495-498. (?DATE 1985)

1984


I. BJERRE, B. FAGHER, E. RYDING and I. ROSEN, The Angelman or 'happy puppet' syndrome : Clinical and electroencephalographic features and cerebral blood flow, in Acta Paediatr Scand, Volume 73, Number 3, pages 398-402. (may 1, 1984) [Medline's Abstract]

1983


S. ROLANDO, R. SCHENONE e M. SCHIAPPAPIETRA, [Angelman's syndrome], in Minerva Pediatr, Volume 35, Numero 13-14, pages 727-731. (31 juglio 1983) (Italiano) (No abstract available)

1982


H.M. PASHAYAN, W. SINGER, C. BOVE, E. EISENBERG and B. SETO, The Angelman syndrome in two brothers, in American Journal of Medical Genetics, Volume 13, Number 1, pages 295-298. (November 1, 1982) (No abstract available)

Charles A. WILLIAMS, and J.L. FRIAS, The Angelman ("happy puppet") syndrome, in American Journal of Medical Genetics, Volume 11, Number 4, pages 453-460. (April 1, 1982) [Medline's Abstract]

1981


J.M. DOOLEY, J.M. BERG, Z. PAKULA, D.L. MACGREGOR, The puppet-like syndrome of Angelman, in American Journal of Diseases of Children, Volume 135, Number 7, pages 621-624. (July 1, 1981) [Medline's Abstract]

1976


F. HALAL et J. CHAGNON, Le syndrome de la "marionette joyeuse", in Union Médicale du Canada, Volume 105, Numéro 7, pages 1077-1083. (juillet 1976)

Comas A. PEREZ, [Angelman's "Happy Puppet Syndrome"], in Bol Asoc Med P R., Volumen 68, Numero 10, pages 257-260. (1 octubre 1976) (español) (No abstract available)

S. PELC, J. LEVY and G. POINT, 'Happy puppet' syndrome ou syndrome du 'pantin hilare', in Helvetica Paediatrica Acta, Volume 31, Numéro 2, pages 183-188. (août 1976)

1975


M. ELIAN, Fourteen happy puppets, in Clin Pediatr, Number 14, pages 902-908. (1975)

1973


J.R. MOORE and P.M. JEAVONS, The "happy puppet" syndrome : Two new cases and a review of five previous cases, in Neuropäediatrie, Number 4, pages 172-179. (1973)

O. MAYO, M.M. NELSON and H.R.A. TOWNSEND, Three more "happy puppets", in Developmental Medecine & Child Neurology, Volume 15, Number 1, pages 63-69. (February 1973)

M.A. KIBEL and F.R. BURNESS, The "happy puppet" syndrome, in Centr Afr J Med, Number 19, pages 91-93. (1973)

1972


S. BERGGREEN, "Happy puppet" syndrome, in Ugeskrift Laeger, 134. årg [Number 134], nr. 22 [Number 22], page 1174. (29. maj 1972) [May 29, 1972]

J.M. BERG and Z. PAKULA, Angelman's ("happy puppet") syndrome, in American Journal of Diseases of Children, Volume 123, Number 1, pages 72-74. (January 1, 1972) (No abstract available)

1967 : La première réaction (la marionnette est devenue joyeuse !)
1967 : The first reaction (the puppet is happy now !)


B.D. BOWER and P.M. JEAVONS, The "happy puppet" syndrome, in Archives of Disease in Childhood, Volume 42, Number __, pages 298-302. (June 1967)

1965 : LE TEXTE INITIAL !!!
1965 : THE VERY FIRST TEXT !!!


Harry ANGELMAN, "Puppet" children : A report on three cases, in Developmental Medecine & Child Neurology (ex-Cerebral Palsy Bulletin), Volume 7, Number 6, pages 681-688. (? December 1965)

Ils sont aux anges !
© Michel Marcotte, 1997

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Dernière mise à jour: Le lundi 1er janvier 1998
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