Review articles

	Hirschsprung disease, associated syndromes, and genetics: a review Jeanne Amiel and Stanislas Lyonnet J Med Genet 2001; 38: 729-739. doi:10.1136/jmg.38.11.729 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	High resolution comparative genomic hybridisation in clinical cytogenetics Maria Kirchhoff, Hanne Rose, and Claes Lundsteen J Med Genet 2001; 38: 740-744. doi:10.1136/jmg.38.11.740 [Abstract] [Full text] [PDF] [Request Permissions]
	Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance L Faivre, M Le Merrer, C Baumann, M Polak, P Chatelain, V Sulmont, J Cousin, M Bost, M P Cordier, E Zackai, K Russell, G Finidori, J C Pouliquen, A Munnich, P Maroteaux, and V Cormier-Daire J Med Genet 2001; 38: 745-749. doi:10.1136/jmg.38.11.745 [Abstract] [Full text] [PDF] [Request Permissions]
	Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males K D MacDermot, A Holmes, and A H Miners J Med Genet 2001; 38: 750-760. doi:10.1136/jmg.38.11.750 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations Robert P Erickson, Susan L Dagenais, Mark S Caulder, Catherine A Downs, Gail Herman, Marilyn C Jones, Wilhelmina S Kerstjens-Frederikse, Andrew C Lidral, Marie McDonald, Christine C Nelson, Marlys Witte, and Thomas W Glover J Med Genet 2001; 38: 761-766. doi:10.1136/jmg.38.11.761 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Coeliac disease in Williams syndrome Aldo Giannotti, Giovanni Tiberio, Massimo Castro, Fabio Virgilii, Franco Colistro, Francesca Ferretti, Maria Cristina Digilio, Manuela Gambarara, and Bruno Dallapiccola J Med Genet 2001; 38: 767-768. doi:10.1136/jmg.38.11.767 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females K D MacDermot, A Holmes, and A H Miners J Med Genet 2001; 38: 769-775. doi:10.1136/jmg.38.11.769 [Extract] [Full text] [PDF] [Request Permissions]
	Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa Kevin M O'Shaughnessy, Beiyuan Fu, Sarah Downing, and Nicholas H Morris J Med Genet 2001; 38: 775-777. doi:10.1136/jmg.38.11.775 [Extract] [Full text] [PDF] [Request Permissions]
	Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study Margarida D Amaral, Paula Pacheco, Sebastian Beck, Carlos M Farinha, Deborah Penque, Paulo Nogueira, Celeste Barreto, Beatriz Lopes, Teresa Casals, Javier Dapena, Silvia Gartner, Carlos Vásquez, Javier Pérez-Frías, Casilda Olveira, Rodrigo Cabanas, Xavier Estivill, Maria Tzetis, Emmanuel Kanavakis, Stavros Doudounakis, Thilo Dörk, Burkhard Tümmler, Emmanuelle Girodon-Boulandet, Cécile Cazeneuve, Michel Goossens, Martine Blayau, Claudine Verlingue, Isabel Vieira, Claude Féréc, Mireille Claustres, Marie des Georges, Christine Clavel, Philippe Birembaut, Dominique Hubert, Thierry Bienvenu, Michèle Adoun, Jean-Claude Chomel, Kris De Boeck, Harry Cuppens, and João Lavinha J Med Genet 2001; 38: 777-783. doi:10.1136/jmg.38.11.777 [Extract] [Full text] [PDF] [Request Permissions]
	Maternal gene effect in neurofibromatosis 2: fact or artefact? Michael E Baser, J M Friedman, and D Gareth R Evans J Med Genet 2001; 38: 783-784. doi:10.1136/jmg.38.11.783 [Extract] [Full text] [PDF] [Request Permissions]
	Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET Lidia Kasprzak, Serge Nolet, Louis Gaboury, Carles Pavia, Carles Villabona, Francisca Rivera-Fillat, Josep Oriola, and William D Foulkes J Med Genet 2001; 38: 784-787. doi:10.1136/jmg.38.11.784 [Extract] [Full text] [PDF] [Request Permissions]
	Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer Katja Aktan-Collan, Ari Haukkala, Jukka-Pekka Mecklin, Antti Uutela, and Helena Kääriäinen J Med Genet 2001; 38: 787-792. doi:10.1136/jmg.38.11.787 [Extract] [Full text] [PDF] [Request Permissions]
	Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J E Whittington, A J Holland, T Webb, J Butler, D Clarke, and H Boer J Med Genet 2001; 38: 792-798. doi:10.1136/jmg.38.11.792 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion Jadwiga Jaruzelska, Aleksandra Korcz, Alina Wojda, Piotr Jedrzejczak, Joanna Bierla, Tatiana Surmacz, Leszek Pawelczyk, David C Page, and Maciej Kotecki J Med Genet 2001; 38: 798-802. doi:10.1136/jmg.38.11.798 [Extract] [Full text] [PDF] [Request Permissions]
	Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia Jean Pierre Siffroi, Brigitte Benzacken, Roxani Angelopoulou, Corine Le Bourhis, Isabelle Berthaut, Samia Kanafani, Asmae Smahi, Jean Philippe Wolf, and Jean Pierre Dadoune J Med Genet 2001; 38: 802-806. doi:10.1136/jmg.38.11.802 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Comparative Genomics. LAURENCE D HURST J Med Genet 2001; 38: 807. doi:10.1136/jmg.38.11.807 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Wolfram syndrome: a clinical and molecular genetic analysis Philipp Eller, Bernhard Föger, Roland Gander, Teresa Sauper, Monika Lechleitner, Gerd Finkenstedt, and Josef R Patsch J Med Genet 2001; 38: e37. doi:10.1136/jmg.38.11.e37 [Extract] [Full text] [PDF] [Request Permissions]
	Twenty CAG repeats are sufficient to cause the SCA6 phenotype Katsuhide Komeichi, Hidenao Sasaki, Ichiro Yabe, Isao Yamashita, Seiji Kikuchi, and Kunio Tashiro J Med Genet 2001; 38: e38. doi:10.1136/jmg.38.11.e38 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM Shirley Rainier, Peter Hedera, David Alvarado, Xinping Zhao, Kleopas A Kleopa, Terry Heiman-Patterson, and John K Fink J Med Genet 2001; 38: e39. doi:10.1136/jmg.38.11.e39 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular and clinical study of two myotonic dystrophy homozygotes Fahri Akbas, Piraye Serdaroglu, Feza Deymeer, Fikret Aysal, and Nihan Erginel-Unaltuna J Med Genet 2001; 38: e40. doi:10.1136/jmg.38.11.e40 [Extract] [Full text] [PDF] [Request Permissions]
	Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material Tohru Yorifuji, Junko Muroi, Mitsukazu Mamada, Ayumi Uematsu, Masahiko Kawai, Toru Momoi, Masayuki Kaji, Chutaro Yamanaka, and Tatsutoshi Nakahata J Med Genet 2001; 38: e41. doi:10.1136/jmg.38.11.e41 [Extract] [Full text] [PDF] [Request Permissions]