Review articles

	Nail patella syndrome: a review of the phenotype aided by developmental biology E Sweeney, A Fryer, R Mountford, A Green, and I McIntosh J Med Genet 2003; 40: 153-162. doi:10.1136/jmg.40.3.153 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia A Cenarro, M Artieda, S Castillo, P Mozas, G Reyes, D Tejedor, R Alonso, P Mata, M Pocoví, and F Civeira J Med Genet 2003; 40: 163-168. doi:10.1136/jmg.40.3.163 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation J J Cox, S T Holden, S Dee, J I Burbridge, and F L Raymond J Med Genet 2003; 40: 169-174. doi:10.1136/jmg.40.3.169 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism P J Yong, I J Barrett, D K Kalousek, and W P Robinson J Med Genet 2003; 40: 175-182. doi:10.1136/jmg.40.3.175 [Abstract] [Full text] [Web-only Appendices] [PDF] [Request Permissions]

Short reports

	Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism Y J Crow, D N Black, M Ali, J Bond, A P Jackson, M Lefson, J Michaud, E Roberts, J B P Stephenson, C G Woods, and P Lebon J Med Genet 2003; 40: 183-187. doi:10.1136/jmg.40.3.183 [Abstract] [Full text] [PDF] [Request Permissions]
	The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency M Chol, S Lebon, P Bénit, D Chretien, P de Lonlay, A Goldenberg, S Odent, L Hertz-Pannier, C Vincent-Delorme, V Cormier-Daire, P Rustin, A Rötig, and A Munnich J Med Genet 2003; 40: 188-191. doi:10.1136/jmg.40.3.188 [Abstract] [Full text] [PDF] [Request Permissions]
	Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene C E Beesley, D Burke, M Jackson, A Vellodi, B G Winchester, and E P Young J Med Genet 2003; 40: 192-194. doi:10.1136/jmg.40.3.192 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases V Cormier-Daire, A L Delezoide, N Philip, P Marcorelles, K Casas, Y Hillion, L Faivre, D L Rimoin, A Munnich, P Maroteaux, and M Le Merrer J Med Genet 2003; 40: 195-200. doi:10.1136/jmg.40.3.195 [Extract] [Full text] [PDF] [Request Permissions]
	Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips G R Mortier, P P G Kramer, A Giedion, and F A Beemer J Med Genet 2003; 40: 201-207. doi:10.1136/jmg.40.3.201 [Extract] [Full text] [PDF] [Request Permissions]
	Cancer risk in 348 French MSH2 or MLH1 gene carriers Y Parc, C Boisson, G Thomas, and S Olschwang J Med Genet 2003; 40: 208-213. doi:10.1136/jmg.40.3.208 [Extract] [Full text] [Web-only Tables] [PDF] [Request Permissions]
	Haptoglobin and its association with the HELLP syndrome M T M Raijmakers, E M Roes, R H M te Morsche, E A P Steegers, and W H M Peters J Med Genet 2003; 40: 214-216. doi:10.1136/jmg.40.3.214 [Extract] [Full text] [PDF] [Request Permissions]
	Significant frequency deviation of the class I polymorphism HLA-A10 in schizophrenic patients B Laumbacher, N Müller, B Bondy, B Schlesinger, S Gu, B Fellerhoff, and R Wank J Med Genet 2003; 40: 217-219. doi:10.1136/jmg.40.3.217 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay M Baralle, D Baralle, L De Conti, C Mattocks, J Whittaker, A Knezevich, C ffrench-Constant, and F E Baralle J Med Genet 2003; 40: 220-222. doi:10.1136/jmg.40.3.220 [Extract] [Full text] [PDF] [Request Permissions]
	Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy P M H West, D R Love, P M Stapleton, and I M Winship J Med Genet 2003; 40: 223-226. doi:10.1136/jmg.40.3.223 [Extract] [Full text] [PDF] [Request Permissions]
	From Aldrovandi’s "Homuncio" (1592) to Buffon’s girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis? M Ruggieri and A Polizzi J Med Genet 2003; 40: 227-232. doi:10.1136/jmg.40.3.227 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease S Borrego, R M Fernández, H Dziema, A Niess, M López-Alonso, G Antiñolo, and C Eng J Med Genet 2003; 40: e18. doi:10.1136/jmg.40.3.e18 [Extract] [Full text] [PDF] [Request Permissions]
	No fumarate hydratase (FH) mutations in hereditary prostate cancer R Lehtonen, M Kiuru, A Rökman, T Ikonen, J M Cunningham, D J Schaid, M Matikainen, N N Nupponen, A Karhu, O-P Kallioniemi, S N Thibodeau, J Schleutker, and L A Aaltonen J Med Genet 2003; 40: e19. doi:10.1136/jmg.40.3.e19 [Extract] [Full text] [PDF] [Request Permissions]
	Y chromosome haplotypes and testicular cancer in the English population L Quintana-Murci, M E Weale, M G Thomas, E Erdei, N Bradman, J H Shanks, C Krausz, and K McElreavey J Med Genet 2003; 40: e20. doi:10.1136/jmg.40.3.e20 [Extract] [Full text] [PDF] [Request Permissions]
	RNASEL mutations in hereditary prostate cancer H Chen, A R Griffin, Y-Q Wu, L P Tomsho, K A Zuhlke, E M Lange, S B Gruber, and K A Cooney J Med Genet 2003; 40: e21. doi:10.1136/jmg.40.3.e21 [Extract] [Full text] [PDF] [Request Permissions]
	The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men K Kotar, N Hamel, I Thiffault, and W D Foulkes J Med Genet 2003; 40: e22. doi:10.1136/jmg.40.3.e22 [Extract] [Full text] [PDF] [Request Permissions]
	The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene W Hofmann, D Horn, C Hüttner, E Classen, and S Scherneck J Med Genet 2003; 40: e23. doi:10.1136/jmg.40.3.e23 [Extract] [Full text] [PDF] [Request Permissions]
	Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy? D M Eccles, S Barker, D T Pilz, and C Kennedy J Med Genet 2003; 40: e24. doi:10.1136/jmg.40.3.e24 [Extract] [Full text] [PDF] [Request Permissions]
	Little value from including cousins in individual risk assessment of hereditary breast cancer: a simulation study M A Jonker, G H de Bock, W E Hoogendoorn, C J van Asperen, and J C van Houwelingen J Med Genet 2003; 40: e25. doi:10.1136/jmg.40.3.e25 [Extract] [Full text] [PDF] [Request Permissions]
	Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14 K J Coveler, V R Sutton, C Knox-DuBois, and L G Shaffer J Med Genet 2003; 40: e26. doi:10.1136/jmg.40.3.e26 [Extract] [Full text] [PDF] [Request Permissions]
	Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl G Barbi, C Spaich, S Adolph, and H Kehrer-Sawatzki J Med Genet 2003; 40: e27. doi:10.1136/jmg.40.3.e27 [Extract] [Full text] [PDF] [Request Permissions]
	Partial hexasomy 15pter15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report A Nietzel, B Albrecht, H Starke, A Heller, G Gillessen-Kaesbach, U Claussen, and T Liehr J Med Genet 2003; 40: e28. doi:10.1136/jmg.40.3.e28 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome C Fan, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, and Q Wang J Med Genet 2003; 40: e29. doi:10.1136/jmg.40.3.e29 [Extract] [Full text] [PDF] [Request Permissions]
	Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples I Sumitsuji, K Sugano, T Matsui, N Fukayama, K Yamaguchi, T Akasu, S Fujita, Y Moriya, R Yokoyama, S Nomura, T Yoshida, T Kodama, and M Ogawa J Med Genet 2003; 40: e30. doi:10.1136/jmg.40.3.e30 [Extract] [Full text] [PDF] [Request Permissions]
	High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil J C C Rocha, R L A Silva, B B Mendonça, S Marui, A J G Simpson, and A A Camargo J Med Genet 2003; 40: e31. doi:10.1136/jmg.40.3.e31 [Extract] [Full text] [PDF] [Request Permissions]
	A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy C Gendrot, Y Bacq, M-C Brechot, J Lansac, and C Andres J Med Genet 2003; 40: e32. doi:10.1136/jmg.40.3.e32 [Extract] [Full text] [PDF] [Request Permissions]