Original articles

	Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer J D McKay, D Thompson, F Lesueur, K Stankov, A Pastore, C Watfah, S Strolz, G Riccabona, R Moncayo, G Romeo, and D E Goldgar J Med Genet 2004; 41: 407-412. doi:10.1136/jmg.2003.017350 [Abstract] [Full text] [PDF] [Request Permissions]
	Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion A Baumer, M Riegel, and A Schinzel J Med Genet 2004; 41: 413-420. doi:10.1136/jmg.2003.016352 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

	DFNA5: hearing impairment exon instead of hearing impairment gene? L Van Laer, K Vrijens, S Thys, V F I Van Tendeloo, R J H Smith, D R Van Bockstaele, J-P Timmermans, and G Van Camp J Med Genet 2004; 41: 401-406. doi:10.1136/jmg.2003.015073 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Prospective risk of cancer in CDKN2A germline mutation carriers A M Goldstein, J P Struewing, M C Fraser, M W Smith, and M A Tucker J Med Genet 2004; 41: 421-424. doi:10.1136/jmg.2004.019349 [Abstract] [Full text] [PDF] [Request Permissions]

Medical genetics in practice

	A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO D G R Evans, D M Eccles, N Rahman, K Young, M Bulman, E Amir, A Shenton, A Howell, and F Lalloo J Med Genet 2004; 41: 474-480. doi:10.1136/jmg.2003.017996 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, H van Bokhoven, and E F P M Schoenmakers J Med Genet 2004; 41: 425-432. doi:10.1136/jmg.2004.018531 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes M A Aldred, R O C Sanford, N S Thomas, M A Barrow, L C Wilson, L A Brueton, M C Bonaglia, R C M Hennekam, C Eng, N R Dennis, and R C Trembath J Med Genet 2004; 41: 433-439. doi:10.1136/jmg.2003.017202 [Extract] [Full text] [Web-only Appendix] [PDF] [Request Permissions]
	Familial X/Y translocations associated with variable sexual phenotype A Sharp, K Kusz, J Jaruzelska, M Szarras-Czapnik, J Wolski, and P Jacobs J Med Genet 2004; 41: 440-444. doi:10.1136/jmg.2003.017624 [Extract] [Full text] [PDF] [Request Permissions]
	Estimating the age of rare disease mutations: the example of Triple-A syndrome E Genin, A Tullio-Pelet, F Begeot, S Lyonnet, and L Abel J Med Genet 2004; 41: 445-449. doi:10.1136/jmg.2003.017962 [Extract] [Full text] [PDF] [Request Permissions]
	A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24 K Van Den Bogaert, E M R De Leenheer, W Chen, Y Lee, P Nürnberg, R J E Pennings, K Vanderstraeten, M Thys, C W R J Cremers, R J H Smith, and G Van Camp J Med Genet 2004; 41: 450-453. doi:10.1136/jmg.2004.018671 [Extract] [Full text] [PDF] [Request Permissions]
	5,10-methylenetetrahydrofolate reductase (MTHFR) 677CT and 1298AC mutations are associated with DNA hypomethylation R Castro, I Rivera, P Ravasco, M E Camilo, C Jakobs, H J Blom, and I T de Almeida J Med Genet 2004; 41: 454-458. doi:10.1136/jmg.2003.017244 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis F Capon, C Helms, C D Veal, D Tillman, A D Burden, J N Barker, A M Bowcock, and R C Trembath J Med Genet 2004; 41: 459-460. doi:10.1136/jmg.2004.018226 [Extract] [Full text] [PDF] [Request Permissions]
	Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling N B Y Tsui, S S C Chim, R W K Chiu, T K Lau, E K O Ng, T N Leung, Y K Tong, K C A Chan, and Y M D Lo J Med Genet 2004; 41: 461-467. doi:10.1136/jmg.2003.016881 [Extract] [Full text] [PDF] [Request Permissions]
	An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta M Michaelides, A Bloch-Zupan, G E Holder, D M Hunt, and A T Moore J Med Genet 2004; 41: 468-473. doi:10.1136/jmg.2003.015792 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, and O Zuffardi J Med Genet 2004; 41: e71. doi:10.1136/jmg.2003.012260 [Extract] [Full text] [PDF] [Request Permissions]
	Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption P Lastella, N Resta, I Miccolis, A Quagliarella, G Guanti, and A Stella J Med Genet 2004; 41: e72. doi:10.1136/jmg.2003.016659 [Extract] [Full text] [PDF] [Request Permissions]
	A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome M Mancuso, C Vives-Bauza, M Filosto, R Marti, A Solano, J Montoya, J Gamez, S DiMauro, and A L Andreu J Med Genet 2004; 41: e73. doi:10.1136/jmg.2003.012278 [Extract] [Full text] [PDF] [Request Permissions]
	Haplotype analysis of human AMPD1 gene: origin of common mutant allele K Toyama, H Morisaki, Y Kitamura, M Gross, T Tamura, Y Nakahori, J M Vance, M Speer, N Kamatani, and T Morisaki J Med Genet 2004; 41: e74. doi:10.1136/jmg.2003.013151 [Extract] [Full text] [PDF] [Request Permissions]
	Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, and M Jaksch J Med Genet 2004; 41: e75. doi:10.1136/jmg.2003.015024 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic influences on the circulating cytokines involved in osteoclastogenesis G Livshits, I Pantsulaia, S Trofimov, and E Kobyliansky J Med Genet 2004; 41: e76. doi:10.1136/jmg.2003.014373 [Extract] [Full text] [PDF] [Request Permissions]
	A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, and V Cormier-Daire J Med Genet 2004; 41: e77. doi:10.1136/jmg.2003.013573 [Extract] [Full text] [PDF] [Request Permissions]
	Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations M Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, and S Manouvrier-Hanu J Med Genet 2004; 41: e78. doi:10.1136/jmg.2003.013904 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence of differing genotypic effects of PPAR in women and men Q H Khan, D E Pontefract, S Iyengar, and S Ye J Med Genet 2004; 41: e79. doi:10.1136/jmg.2003.014407 [Extract] [Full text] [PDF] [Request Permissions]
	Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, M X Guan, W Y Yang, and Y Shen J Med Genet 2004; 41: e80. doi:10.1136/jmg.2003.012799 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms L Cremonesi, A Cozzi, D Girelli, F Ferrari, I Fermo, B Foglieni, S Levi, C Bozzini, M Camparini, M Ferrari, and P Arosio J Med Genet 2004; 41: e81. doi:10.1136/jmg.2003.011718 [Extract] [Full text] [PDF] [Request Permissions]
	Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, and M Frontali J Med Genet 2004; 41: e82. doi:10.1136/jmg.2003.015396 [Extract] [Full text] [PDF] [Request Permissions]
	A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia N Sabherwal, R J Blaschke, A Marchini, D Heine-Suner, J Rosell, J Ferragut, W F Blum, and G Rappold J Med Genet 2004; 41: e83. doi:10.1136/jmg.2003.016402 [Extract] [Full text] [PDF] [Request Permissions]
	Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome V Fremeaux-Bacchi, M-A Dragon-Durey, J Blouin, C Vigneau, D Kuypers, B Boudailliez, C Loirat, E Rondeau, and W H Fridman J Med Genet 2004; 41: e84. doi:10.1136/jmg.2004.019083 [Extract] [Full text] [PDF] [Request Permissions]
	Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases F Kammoun, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, and P Landrieu J Med Genet 2004; 41: e85. doi:10.1136/jmg.2003.014480 [Extract] [Full text] [PDF] [Request Permissions]
	P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome N A Garrison, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, and M H Brilliant J Med Genet 2004; 41: e86. doi:10.1136/jmg.2003.014902 [Extract] [Full text] [PDF] [Request Permissions]
	Broader geographical spectrum of Cohen syndrome due to COH1 mutations G H Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, and C A Walsh J Med Genet 2004; 41: e87. doi:10.1136/jmg.2003.014779 [Extract] [Full text] [PDF] [Request Permissions]
	A germline mutation in KIT in familial diffuse cutaneous mastocytosis X Tang, M Boxer, A Drummond, P Ogston, M Hodgins, and A D Burden J Med Genet 2004; 41: e88. doi:10.1136/jmg.2003.015156 [Extract] [Full text] [PDF] [Request Permissions]
	Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients G Keller, H Vogelsang, I Becker, S Plaschke, K Ott, G Suriano, A R Mateus, R Seruca, K Biedermann, D Huntsman, C Döring, E Holinski-Feder, A Neutzling, J R Siewert, and H Höfler J Med Genet 2004; 41: e89. doi:10.1136/jmg.2003.015594 [Extract] [Full text] [PDF] [Request Permissions]