Review articles

	Cultural aspects of cancer genetics: setting a research agenda Bettina Meiser, Maurice Eisenbruch, Kristine Barlow-Stewart, Katherine Tucker, Zachary Steel, and David Goldstein J Med Genet 2001; 38: 425-429. doi:10.1136/jmg.38.7.425 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Genotype-phenotype correlation in hereditary multiple exostoses C Francannet, A Cohen-Tanugi, M Le Merrer, A Munnich, J Bonaventure, and L Legeai-Mallet J Med Genet 2001; 38: 430-434. doi:10.1136/jmg.38.7.430 [Abstract] [Full text] [PDF] [Request Permissions]
	Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease Laurent Villard, Nicolas Lévy, Fengqing Xiang, Arlette Kpebe, Véronique Labelle, Christophe Chevillard, Zhiping Zhang, Charles E Schwartz, Marc Tardieu, Jamel Chelly, Maria Anvret, and Michel Fontès J Med Genet 2001; 38: 435-442. doi:10.1136/jmg.38.7.435 [Abstract] [Full text] [PDF] [Request Permissions]
	Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the pro1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta James M Pace, Christine D Kuslich, Marcia C Willing, and Peter H Byers J Med Genet 2001; 38: 443-449. doi:10.1136/jmg.38.7.443 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease Luk W Ho, Rosemary Brown, Michelle Maxwell, Andreas Wyttenbach, and David C Rubinsztein J Med Genet 2001; 38: 450-452. doi:10.1136/jmg.38.7.450 [Abstract] [Full text] [PDF] [Request Permissions]
	A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA F Tassone, R J Hagerman, A K Taylor, and P J Hagerman J Med Genet 2001; 38: 453-456. doi:10.1136/jmg.38.7.453 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene Dominique P Germain J Med Genet 2001; 38: 457-461. doi:10.1136/jmg.38.7.457 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma Robert B Chadwick, Robert E Pyatt, Theodore H Niemann, Samuel K Richards, Cheryl K Johnson, Michael W Stevens, Julie E Meek, Heather Hampel, Thomas W Prior, and Albert de la Chapelle J Med Genet 2001; 38: 461-466. doi:10.1136/jmg.38.7.461 [Extract] [Full text] [WEB ONLY FIGURES] [PDF] [Request Permissions]
	Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus E S Tobias, G Bryce, G Farmer, J Barton, J Colgan, N Morrison, A Cooke, and J L Tolmie J Med Genet 2001; 38: 466-470. doi:10.1136/jmg.38.7.466 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 Helene Dollfus, Govindasamy Kumaramanickavel, Partha Biswas, Corinne Stoetzel, Renaud Quillet, Michael Denton, Marion Maw, and Fabienne Perrin-Schmitt J Med Genet 2001; 38: 470-472. doi:10.1136/jmg.38.7.470 [Extract] [Full text] [PDF] [Request Permissions]
	Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation Susana Seixas, Ana Isabel Lopes, Jorge Rocha, Lídia Silva, Carlos Salgueiro, Jaime Salazar-de-Sousa, and Amélia Batista J Med Genet 2001; 38: 472-474. doi:10.1136/jmg.38.7.472 [Extract] [Full text] [PDF] [Request Permissions]
	The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation Vikas Mahavni, Seung C Kim, Teresa A Benda, Linda Sanders, and Richard E Buller J Med Genet 2001; 38: 474-478. doi:10.1136/jmg.38.7.474 [Extract] [Full text] [PDF] [Request Permissions]
	Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus Yang Li, Irene Marcos, Salud Borrego, Zhengya Yu, Kang Zhang, and Guillermo Antiñolo J Med Genet 2001; 38: 478-480. doi:10.1136/jmg.38.7.478 [Extract] [Full text] [PDF] [Request Permissions]
	PTEN mutations are uncommon in Proteus syndrome K Barker, A Martinez, R Wang, S Bevan, V Murday, J Shipley, R Houlston, and J Harper J Med Genet 2001; 38: 480-481. doi:10.1136/jmg.38.7.480 [Extract] [Full text] [PDF] [Request Permissions]
	Limited contribution of interchromosomal gene conversion to NF1 gene mutation M Luijten, R Fahsold, C Mischung, A Westerveld, P Nürnberg, and T J M Hulsebos J Med Genet 2001; 38: 481-485. doi:10.1136/jmg.38.7.481 [Extract] [Full text] [PDF] [Request Permissions]
	A clinical study of patients with multiple isolated neurofibromas Patricia Blakley, David N Louis, M Priscilla Short, and Mia MacCollin J Med Genet 2001; 38: 485-488. doi:10.1136/jmg.38.7.485 [Extract] [Full text] [PDF] [Request Permissions]
	B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? Patrick Edery, Françoise Le Deist, Marie-Louise Briard, Marianne Debré, Arnold Munnich, Claude Griscelli, Alain Fischer, and Stanislas Lyonnet J Med Genet 2001; 38: 488-493. doi:10.1136/jmg.38.7.488 [Extract] [Full text] [PDF] [Request Permissions]
	Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder K L Baker, M I Rees, P W Thompson, R T Howell, T R Cole, H E Hughes, M Upadhyaya, and D Ravine J Med Genet 2001; 38: 493-496. doi:10.1136/jmg.38.7.493 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Distal arthrogryposis: a new type with distinct facial appearance and absent teeth Rodney K Beals and Stephen LaFranchi J Med Genet 2001; 38: e22. doi:10.1136/jmg.38.7.e22 [Extract] [Full text] [PDF] [Request Permissions]
	A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene Wuh-Liang Hwu, Keiko Kobayashi, Ya-Hui Hu, Naoki Yamaguchi, Takeyori Saheki, Shi-Ping Chou, and Jing-Houng Wang J Med Genet 2001; 38: e23. doi:10.1136/jmg.38.7.e23 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic analysis of the connexin-26 M34T variant Andrew J Griffith, David P Kelsell, Mark J Houseman, William Reardon, Maria Bitner-Glindzicz, and Robert F Mueller J Med Genet 2001; 38: e24. doi:10.1136/jmg.38.7.e24 [Extract] [Full text] [PDF] [Request Permissions]