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Review articles

	Channelopathies: ion channel defects linked to heritable clinical disorders Ricardo Felix J Med Genet 2000; 37: 729-740. doi:10.1136/jmg.37.10.729 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF- family Jennifer R Thomson, Rajiv D Machado, Michael W Pauciulo, Neil V Morgan, Marc Humbert, Greg C Elliott, Ken Ward, Magdi Yacoub, Ghada Mikhail, Paula Rogers, John Newman, Lisa Wheeler, Timothy Higenbottam, J Simon R Gibbs, Jim Egan, Agnes Crozier, Andrew Peacock, Robert Allcock, Paul Corris, James E Loyd, Richard C Trembath, and William C Nichols J Med Genet 2000; 37: 741-745. doi:10.1136/jmg.37.10.741 [Abstract] [Full text] [PDF] [Request Permissions]
	ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein Carlos Cardoso, Yves Lutz, Cecile Mignon, Emmanuel Compe, Danielle Depetris, Marie-Geneviève Mattei, Michel Fontes, and Laurence Colleaux J Med Genet 2000; 37: 746-751. doi:10.1136/jmg.37.10.746 [Abstract] [Full text] [PDF] [Request Permissions]
	Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism Patricia Blanco, Maria Shlumukova, Carole A Sargent, Mark A Jobling, Nabeel Affara, and Matthew E Hurles J Med Genet 2000; 37: 752-758. doi:10.1136/jmg.37.10.752 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis J C Lindsey, M E Lusher, C J McDermott, K D White, E Reid, D C Rubinsztein, R Bashir, J Hazan, P J Shaw, and K M D Bushby J Med Genet 2000; 37: 759-765. doi:10.1136/jmg.37.10.759 [Abstract] [Full text] [PDF] [Request Permissions]
	Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E 4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology Kari M Mattila, Juha O Rinne, Matias Röyttä, Pekka Laippala, Timo Pietilä, Hannu Kalimo, Timo Koivula, Harry Frey, and Terho Lehtimäki J Med Genet 2000; 37: 766-770. doi:10.1136/jmg.37.10.766 [Abstract] [Full text] [PDF] [Request Permissions]
	Two translocations of chromosome 15q associated with dyslexia Jaana Nopola-Hemmi, Mikko Taipale, Tuomas Haltia, Anna-Elina Lehesjoki, Arja Voutilainen, and Juha Kere J Med Genet 2000; 37: 771-775. doi:10.1136/jmg.37.10.771 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

	Two common forms of the human MLH1 gene may be associated with functional differences Pierre Hutter, Alexia Couturier, and Claudine Rey-Berthod J Med Genet 2000; 37: 776-781. doi:10.1136/jmg.37.10.776 [Extract] [Full text] [PDF] [Request Permissions]

Short reports

	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations Jozef Gécz J Med Genet 2000; 37: 782-784. doi:10.1136/jmg.37.10.782 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	The mutation spectrum in Holt-Oram syndrome STEPHEN J CROSS, YUNG-HAO CHING, QUAN YI LI, LINDSAY ARMSTRONG-BUISSERET, STEPHANIE SPRANGER, STANISLAW LYONNET, DAMIEN BONNET, MAILA PENTTINEN, PHILIPPE JONVEAUX, BRUNO LEHEUP, GEERT MORTIER, CONNY VAN RAVENSWAAIJ, CAROL-ANNE GARDINER, J DAVID BROOK, and RUTH NEWBURY-ECOB J Med Genet 2000; 37: 785-787. doi:10.1136/jmg.37.10.785 [Extract] [Full text] [PDF] [Request Permissions]
	Hemiplegic cerebral palsy and the factor V Leiden mutation J L HALLIDAY, D REDDIHOUGH, K BYRON, H EKERT, and M DITCHFIELD J Med Genet 2000; 37: 787-789. doi:10.1136/jmg.37.10.787 [Extract] [Full text] [PDF] [Request Permissions]
	Analysis of the human tumour necrosis factor-alpha (TNF) gene promoter polymorphisms in children with bone cancer ANA PATIÑO-GARCÍA, ELENA SOTILLO-PIÑEIRO, CONSUELO MODESTO, and LUIS SIERRASESÚMAGA J Med Genet 2000; 37: 789-792. doi:10.1136/jmg.37.10.789 [Extract] [Full text] [PDF] [Request Permissions]
	Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history DAVID ELLIS, JILL GREENMAN, SHIRLEY HODGSON, SAM McCALL, FIONA LALLOO, JUNE CAMERON, LOUISE IZATT, GILLIAN SCOTT, CHRIS JACOBS, SALLY WATTS, WENDY CHORLEY, CHRIS PERRETT, KAY MACDERMOT, SHEHLA MOHAMMED, GARETH EVANS, and CHRISTOPHER G MATHEW J Med Genet 2000; 37: 792-794. doi:10.1136/jmg.37.10.792 [Extract] [Full text] [PDF] [Request Permissions]
	Delineation of a new syndrome: clustering of pyloric stenosis, endometriosis, and breast cancer in two families ALEXANDER LIEDE, TUYA PAL, MARGOT MITCHELL, and STEVEN A NAROD J Med Genet 2000; 37: 794-796. doi:10.1136/jmg.37.10.794 [Extract] [Full text] [PDF] [Request Permissions]
	Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby ANNE SLAVOTINEK and HELEN KINGSTON J Med Genet 2000; 37: 796-798. doi:10.1136/jmg.37.10.796 [Extract] [Full text] [PDF] [Request Permissions]
	Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS) DAGMAR WIECZOREK, MARIO KRAUSE, FRANK MAJEWSKI, BEATE ALBRECHT, PETER MEINECKE, OLAF RIESS, and GABRIELE GILLESSEN-KAESBACH J Med Genet 2000; 37: 798-804. doi:10.1136/jmg.37.10.798 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry HEINRICH SCHMIDT, SABINE UHRIG, GABY LEDERER, JAN MURKEN, MICHAEL R SPEICHER, and SIMONE SCHUFFENHAUER J Med Genet 2000; 37: 804-807. doi:10.1136/jmg.37.10.804 [Extract] [Full text] [PDF] [Request Permissions]
	An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations ANNETTE E COCKWELL, BARBARA GIBBONS, ISABELLA E MOORE, and JOHN A CROLLA J Med Genet 2000; 37: 807-810. doi:10.1136/jmg.37.10.807 [Extract] [Full text] [PDF] [Request Permissions]
	Why patients do not attend for their appointments at a genetics clinic L HUMPHREYS, A G W HUNTER, A ZIMAK, A O'BRIEN, Y KORNELUK, and M CAPPELLI J Med Genet 2000; 37: 810-815. doi:10.1136/jmg.37.10.810 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 37, p. 263 J Med Genet 2000; 37: 815. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Genetics and deafness: what do families want? M J PARKER, H M FORTNUM, I D YOUNG, and A C DAVIS J Med Genet 2000; 37: e26. doi:10.1136/jmg.37.10.e26 [Extract] [Full text] [PDF] [Request Permissions]
	A case of dyschondrosteosis from Roman Britain H A WALDRON J Med Genet 2000; 37: e27. doi:10.1136/jmg.37.10.e27 [Extract] [Full text] [PDF] [Request Permissions]
	Xp;Yp translocation inherited from the father in an SRY, RBM, and TSPY positive true hermaphrodite with oligozoospermia LUCJUSZ JAKUBOWSKI, ANNA JEZIOROWSKA, MARIA CONSTANTINOU, ZOFIA HELSZER, ANNETTE BAUMSTARK, and WALTHER VOGEL J Med Genet 2000; 37: e28. doi:10.1136/jmg.37.10.e28 [Extract] [Full text] [PDF] [Request Permissions]
	MPS II in females: molecular basis of two different cases STÉPHANE CUDRY, ISABELLE TIGAUD, ROSELINE FROISSART, VÉRONIQUE BONNET, IRÈNE MAIRE, and DOMINIQUE BOZON J Med Genet 2000; 37: e29. doi:10.1136/jmg.37.10.e29 [Extract] [Full text] [PDF] [Request Permissions]
	Partial tetrasomy 21 in a male infant ANNE M SLAVOTINEK, XIAO-NING CHEN, ANN JACKSON, LORRAINE GAUNT, ALASTAIR CAMPBELL, JILL CLAYTON-SMITH, and JULIE R KORENBERG J Med Genet 2000; 37: e30. doi:10.1136/jmg.37.10.e30 [Extract] [Full text] [PDF] [Request Permissions]
	Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity D BARALLE, A M DEARLOVE, R BEACH, C FFRENCH-CONSTANT, and E REID J Med Genet 2000; 37: e31. doi:10.1136/jmg.37.10.e31 [Extract] [Full text] [PDF] [Request Permissions]
	Low frequency of microsatellite instability in BRCA1 mutated breast tumours CATHERINE VAURS-BARRIÈRE, FRÉDÉRIQUE PENAULT-LLORCA, VALÉRIE LAPLACE-MARIEZE, NADÈGE PRESNEAU, CHRISTINE M MAUGARD, MARYSE FICHE, AGNÈS HARDOUIN, and YVES-JEAN BIGNON J Med Genet 2000; 37: e32. doi:10.1136/jmg.37.10.e32 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.