Commentaries

	Genetic aetiology of diffuse gastric cancer: so near, yet so far K M Sweet and H T Lynch J Med Genet 2004; 41: 481-483. doi:10.1136/jmg.2004.018903 [Extract] [Full text] [PDF] [Request Permissions]

Original articles

	The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations J R Howe, M G Sayed, A F Ahmed, J Ringold, J Larsen-Haidle, A Merg, F A Mitros, C A Vaccaro, G M Petersen, F M Giardiello, S T Tinley, L A Aaltonen, and H T Lynch J Med Genet 2004; 41: 484-491. doi:10.1136/jmg.2004.018598 [Abstract] [Full text] [PDF] [Request Permissions]
	Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation V Abkevich, A Zharkikh, A M Deffenbaugh, D Frank, Y Chen, D Shattuck, M H Skolnick, A Gutin, and S V Tavtigian J Med Genet 2004; 41: 492-507. doi:10.1136/jmg.2003.015867 [Abstract] [Full text] [PDF] [Request Permissions]
	Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria A R Brooks-Wilson, P Kaurah, G Suriano, S Leach, J Senz, N Grehan, Y S N Butterfield, J Jeyes, J Schinas, J Bacani, M Kelsey, P Ferreira, B MacGillivray, P MacLeod, M Micek, J Ford, W Foulkes, K Australie, C Greenberg, M LaPointe, C Gilpin, S Nikkel, D Gilchrist, R Hughes, C E Jackson, K G Monaghan, M J Oliveira, R Seruca, S Gallinger, C Caldas, and D Huntsman J Med Genet 2004; 41: 508-517. doi:10.1136/jmg.2004.018275 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Effects of a cancer genetics education programme on clinician knowledge and practice K R Blazer, M Grant, S R Sand, D J MacDonald, G C Uman, and J N Weitzel J Med Genet 2004; 41: 518-522. doi:10.1136/jmg.2004.018234 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H M D Teare, A Cox, J Shorto, C Anderson, D T Bishop, and C Cannings J Med Genet 2004; 41: 523-528. doi:10.1136/jmg.2003.017293 [Extract] [Full text] [PDF] [Request Permissions]
	Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2 T Tsilchorozidou, F H Menko, F Lalloo, A Kidd, R De Silva, H Thomas, P Smith, A Malcolmson, J Dore, K Madan, A Brown, J G Yovos, M Tsaligopoulos, N Vogiatzis, ME Baser, A J Wallace, and D G R Evans J Med Genet 2004; 41: 529-534. doi:10.1136/jmg.2003.016774 [Extract] [Full text] [PDF] [Request Permissions]
	Variation in dinucleotide (GT) repeat sequence in the first exon of the STAT6 gene is associated with atopic asthma and differentially regulates the promoter activity in vitro P S Gao, N M Heller, W Walker, C H Chen, M Moller, B Plunkett, M H Roberts, R P Schleimer, J M Hopkin, and S K Huang J Med Genet 2004; 41: 535-539. doi:10.1136/jmg.2003.015842 [Extract] [Full text] [PDF] [Request Permissions]
	Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome C E Oquendo, H Antonicka, E A Shoubridge, W Reardon, and G K Brown J Med Genet 2004; 41: 540-544. doi:10.1136/jmg.2003.017426 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta P S Hart, T C Hart, M D Michalec, O H Ryu, D Simmons, S Hong, and J T Wright J Med Genet 2004; 41: 545-549. doi:10.1136/jmg.2003.017657 [Extract] [Full text] [PDF] [Request Permissions]
	Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) E Schollen, C G Frank, L Keldermans, R Reyntjens, C E Grubenmann, P T Clayton, B G Winchester, J Smeitink, R A Wevers, M Aebi, T Hennet, and G Matthijs J Med Genet 2004; 41: 550-556. doi:10.1136/jmg.2003.016923 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic susceptibility in familial melanoma from northeastern Italy M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg, and D Calista J Med Genet 2004; 41: 557-566. doi:10.1136/jmg.2003.016907 [Extract] [Full text] [PDF] [Request Permissions]
	A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rütten, W Friedl, P Propping, T Ruzicka, and R Kruse J Med Genet 2004; 41: 567-572. doi:10.1136/jmg.2003.012997 [Extract] [Full text] [PDF] [Request Permissions]
	Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival J E A Common, W-L Di, D Davies, and D P Kelsell J Med Genet 2004; 41: 573-575. doi:10.1136/jmg.2003.017632 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Inborn errors of development: the molecular basis of clinical disorders of morphogenesis I D Young J Med Genet 2004; 41: 576. [Extract] [Full text] [PDF] [Request Permissions]
	The genetics of renal disease E P Henske J Med Genet 2004; 41: 576. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction J Med Genet 2004; 41: 576. doi:10.1136/jmg.2003.011924corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, and L Larizza J Med Genet 2004; 41: e90. doi:10.1136/jmg.2003.016311 [Extract] [Full text] [PDF] [Request Permissions]
	Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma M Roupret, J Catto, F Coulet, A-R Azzouzi, N Amira, T Karmouni, G Fromont, M Sibony, G Vallancien, B Gattegno, M Meuth, F C Hamdy, and O Cussenot J Med Genet 2004; 41: e91. doi:10.1136/jmg.2003.017871 [Extract] [Full text] [PDF] [Request Permissions]
	Keratin 8 Y54H and G62C mutations are not associated with liver disease J Halangk, T Berg, G Puhl, T Mueller, R Nickel, A Kage, O Landt, W Luck, B Wiedenmann, P Neuhaus, and H Witt J Med Genet 2004; 41: e92. doi:10.1136/jmg.2003.011650 [Extract] [Full text] [PDF] [Request Permissions]
	Association of the connexin36 gene with juvenile myoclonic epilepsy C Mas, N Taske, S Deutsch, M Guipponi, P Thomas, A Covanis, M Friis, M J Kjeldsen, G P Pizzolato, J-G Villemure, C Buresi, M Rees, A Malafosse, M Gardiner, S E Antonarakis, and P Meda J Med Genet 2004; 41: e93. doi:10.1136/jmg.2003.017954 [Extract] [Full text] [PDF] [Request Permissions]
	SEMA3E mutation in a patient with CHARGE syndrome S R Lalani, A M Safiullah, L M Molinari, S D Fernbach, D M Martin, and J W Belmont J Med Genet 2004; 41: e94. doi:10.1136/jmg.2003.017640 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations E Renkonen, H Lohi, H J Järvinen, J-P Mecklin, and P Peltomäki J Med Genet 2004; 41: e95. doi:10.1136/jmg.2003.017269 [Extract] [Full text] [Figure 2 Additional Version] [PDF] [Request Permissions]
	Met>Val substitution in a highly conserved region of the pro-1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype S Symoens, L Nuytinck, E Legius, F Malfait, P J Coucke, and A De Paepe J Med Genet 2004; 41: e96. doi:10.1136/jmg.2003.014589 [Extract] [Full text] [PDF] [Request Permissions]
	A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family A Okubo, O Miyoshi, K Baba, M Takagi, K Tsukamoto, A Kinoshita, K Yoshiura, T Kishino, T Ohta, N Niikawa, and N Matsumoto J Med Genet 2004; 41: e97. doi:10.1136/jmg.2004.018895 [Extract] [Full text] [PDF] [Request Permissions]
	Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene S Tomatsu, T Nishioka, A M Montaño, M A Gutierrez, O S Pena, K O Orii, W S Sly, S Yamaguchi, T Orii, E Paschke, S G Kircher, and A Noguchi J Med Genet 2004; 41: e98. doi:10.1136/jmg.2003.018010 [Extract] [Full text] [PDF] [Request Permissions]
	The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features R F Badenhop, J C Jansen, P A Fagan, R S A Lord, Z G Wang, W J Foster, and P R Schofield J Med Genet 2004; 41: e99. doi:10.1136/jmg.2003.011551 [Extract] [Full text] [PDF] [Request Permissions]

Online review

	Methodology in longitudinal studies on psychological effects of predictive DNA testing: a review R Timman, T Stijnen, and A Tibben J Med Genet 2004; 41: e100. doi:10.1136/jmg.2003.017541 [Abstract] [Full text] [PDF] [Request Permissions]