Original articles

	Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome K E Chandler, A Kidd, L Al-Gazali, J Kolehmainen, A-E Lehesjoki, G C M Black, and J Clayton-Smith J Med Genet 2003; 40: 233-241. doi:10.1136/jmg.40.4.233 [Abstract] [Full text] [PDF] [Request Permissions]
	Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness H-J Park, S Shaukat, X-Z Liu, S H Hahn, S Naz, M Ghosh, H-N Kim, S-K Moon, S Abe, K Tukamoto, S Riazuddin, M Kabra, R Erdenetungalag, J Radnaabazar, S Khan, A Pandya, S-I Usami, W E Nance, E R Wilcox, S Riazuddin, and A J Griffith J Med Genet 2003; 40: 242-248. doi:10.1136/jmg.40.4.242 [Abstract] [Full text] [Web-only Tables] [PDF] [Request Permissions]
	The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome L Bentley, K Nakabayashi, D Monk, C Beechey, J Peters, Z Birjandi, F E Khayat, M Patel, M A Preece, P Stanier, S W Scherer, and G E Moore J Med Genet 2003; 40: 249-256. doi:10.1136/jmg.40.4.249 [Abstract] [Full text] [Erratum] [PDF] [Request Permissions]
	Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma S-Y Liao, S Ivanov, A Ivanova, S Ghosh, M A Cote, K Keefe, M Coca-Prados, E J Stanbridge, and M I Lerman J Med Genet 2003; 40: 257-261. doi:10.1136/jmg.40.4.257 [Abstract] [Full text] [PDF] [Request Permissions]
	Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts E Nandrot, C Slingsby, A Basak, M Cherif-Chefchaouni, B Benazzouz, Y Hajaji, S Boutayeb, O Gribouval, L Arbogast, A Berraho, M Abitbol, and L Hilal J Med Genet 2003; 40: 262-267. doi:10.1136/jmg.40.4.262 [Abstract] [Full text] [PDF] [Request Permissions]
	Chromosome 2 (2p16) abnormalities in Carney complex tumours L Matyakhina, S Pack, L S Kirschner, E Pak, P Mannan, J Jaikumar, S E Taymans, F Sandrini, J A Carney, and C A Stratakis J Med Genet 2003; 40: 268-277. doi:10.1136/jmg.40.4.268 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 E Flex, M Mangino, M Mazzoli, A Martini, V Migliosi, A Colosimo, R Mingarelli, A Pizzuti, and B Dallapiccola J Med Genet 2003; 40: 278-281. doi:10.1136/jmg.40.4.278 [Abstract] [Full text] [PDF] [Request Permissions]
	Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 L Faivre, M Le Merrer, L I Al-Gazali, M G E M Ausems, P Bitoun, D Bacq, P Maroteaux, A Munnich, and V Cormier-Daire J Med Genet 2003; 40: 282-284. doi:10.1136/jmg.40.4.282 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions T Nagai, N Matsumoto, N Kurotaki, N Harada, N Niikawa, T Ogata, K Imaizumi, K Kurosawa, T Kondoh, H Ohashi, M Tsukahara, Y Makita, T Sugimoto, T Sonoda, T Yokoyama, K Uetake, S Sakazume, Y Fukushima, and K Naritomi J Med Genet 2003; 40: 285-289. doi:10.1136/jmg.40.4.285 [Extract] [Full text] [PDF] [Request Permissions]
	A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase B-E Kim, K Smith, and M J Petris J Med Genet 2003; 40: 290-295. doi:10.1136/jmg.40.4.290 [Extract] [Full text] [PDF] [Request Permissions]
	Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10 -1082 promoter SNP and its interaction with TNF- -308 promoter SNP D Lio, L Scola, A Crivello, G Colonna-Romano, G Candore, M Bonafé, L Cavallone, F Marchegiani, F Olivieri, C Franceschi, and C Caruso J Med Genet 2003; 40: 296-299. doi:10.1136/jmg.40.4.296 [Extract] [Full text] [PDF] [Request Permissions]
	Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? V Cormier-Daire, F Molinari, M Rio, O Raoul, M-C de Blois, S Romana, M Vekemans, A Munnich, and L Colleaux J Med Genet 2003; 40: 300-303. doi:10.1136/jmg.40.4.300 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Similar hereditary motor neuropathies are not allelic disorders J Med Genet 2003; 40: 261. doi:10.1136/jmg.40.4.261 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2003; 40: 304. doi:10.1136/jmg.40.4.304 [Extract] [Full text] [PDF] [Request Permissions]
	CORRECTION J Med Genet 2003; 40: 304. doi:10.1136/jmg.40.4.304-a [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Rapid, inexpensive scanning for all possible BRCA1 and BRCA2 gene sequence variants in a single assay: implications for genetic testing M Bounpheng, S McGrath, D Macias, N van Orsouw, Y Suh, D Rines, and J Vijg J Med Genet 2003; 40: e33. doi:10.1136/jmg.40.4.e33 [Extract] [Full text] [PDF] [Request Permissions]
	Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1? A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, and B L Weber J Med Genet 2003; 40: e34. doi:10.1136/jmg.40.4.e34 [Extract] [Full text] [PDF] [Request Permissions]
	Germline mutations in the TGF-ß and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype L Lipton, O M Sieber, H J W Thomas, S V Hodgson, I P M Tomlinson, and K Woodford-Richens J Med Genet 2003; 40: e35. doi:10.1136/jmg.40.4.e35 [Extract] [Full text] [PDF] [Request Permissions]
	Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1–4 for identification of candidate genes W J Lemon, C H Swinton, M Wang, N Berbari, Y Wang, and M You J Med Genet 2003; 40: e36. doi:10.1136/jmg.40.4.e36 [Extract] [Full text] [PDF] [Request Permissions]
	Studies on the pathogenesis of Costello syndrome G M S Mancini, O P van Diggelen, W J Kleijer, M Di Rocco, V Farina, M Yuksel-Apak, H Kayserili, and D J J Halley J Med Genet 2003; 40: e37. doi:10.1136/jmg.40.4.e37 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical presentation in female patients with Fabry disease N Guffon J Med Genet 2003; 40: e38. doi:10.1136/jmg.40.4.e38 [Extract] [Full text] [PDF] [Request Permissions]
	Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling V Cusin, O Clermont, B Gérard, D Chantereau, and J Elion J Med Genet 2003; 40: e39. doi:10.1136/jmg.40.4.e39 [Extract] [Full text] [PDF] [Request Permissions]
	SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations F U Weiss, P Simon, H Witt, J Mayerle, V Hlouschek, K P Zimmer, J Schnekenburger, W Domschke, J P Neoptolemos, and M M Lerch J Med Genet 2003; 40: e40. doi:10.1136/jmg.40.4.e40 [Extract] [Full text] [PDF] [Request Permissions]
	The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy P Y W Man, C M Morris, M Zeviani, F Carrara, D M Turnbull, and P F Chinnery J Med Genet 2003; 40: e41. doi:10.1136/jmg.40.4.e41 [Extract] [Full text] [PDF] [Request Permissions]
	The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism F J Serajee, H Zhong, R Nabi, and A H M Mahbubul Huq J Med Genet 2003; 40: e42. doi:10.1136/jmg.40.4.e42 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects R Klootwijk, F A Hol, M Wu, J J H T Willemen, P Groenen, B Hamel, H Straatman, R P M Steegers-Theunissen, E C M Mariman, and B Franke J Med Genet 2003; 40: e43. doi:10.1136/jmg.40.4.e43 [Extract] [Full text] [PDF] [Request Permissions]
	Genomic characterisation of C7orf10 in Silver-Russell syndrome patients E Meyer, H A Wollmann, and T Eggermann J Med Genet 2003; 40: e44. doi:10.1136/jmg.40.4.e44 [Extract] [Full text] [PDF] [Request Permissions]
	A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students K Barlow-Stewart, L Burnett, A Proos, V Howell, F Huq, R Lazarus, and H Aizenberg J Med Genet 2003; 40: e45. doi:10.1136/jmg.40.4.e45 [Extract] [Full text] [PDF] [Request Permissions]
	Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay L G Dietz, A A Wylie, K A Rauen, S K Murphy, R L Jirtle, and P D Cotter J Med Genet 2003; 40: e46. doi:10.1136/jmg.40.4.e46 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies E Petek, B Plecko-Startinig, C Windpassinger, H Egger, K Wagner, and P M Kroisel J Med Genet 2003; 40: e47. doi:10.1136/jmg.40.4.e47 [Extract] [Full text] [PDF] [Request Permissions]
	A familial unbalanced subtelomeric translocation resulting in monosomy 6q27qter J Kraus, G Lederer, C Keri, H Seidel, I Rost, A Wirtz, C Fauth, and M R Speicher J Med Genet 2003; 40: e48. doi:10.1136/jmg.40.4.e48 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome L Frisén, K Lagerstedt, M Tapper-Persson, I Kockum, and A Nordenskjöld J Med Genet 2003; 40: e49. doi:10.1136/jmg.40.4.e49 [Extract] [Full text] [PDF] [Request Permissions]
	Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome A Baumstark, K M Lower, A Sinkus, I Andriuskeviciute, L Jurkeniene, J Gécz, and W Just J Med Genet 2003; 40: e50. doi:10.1136/jmg.40.4.e50 [Extract] [Full text] [PDF] [Request Permissions]
	Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families A N A Monteiro, S Zhang, C M Phelan, and S A Narod J Med Genet 2003; 40: e51. doi:10.1136/jmg.40.4.e51 [Extract] [Full text] [PDF] [Request Permissions]