Review articles

	The p63 gene in EEC and other syndromes H G Brunner, B C J Hamel, and H van Bokhoven J Med Genet 2002; 39: 377-381. doi:10.1136/jmg.39.6.377 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Testing for osteogenesis imperfecta in cases of suspected non-accidental injury A Marlowe, M G Pepin, and P H Byers J Med Genet 2002; 39: 382-386. doi:10.1136/jmg.39.6.382 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 M Zortea, A Vettori, C P Trevisan, S Bellini, G Vazza, M Armani, A Simonati, and M L Mostacciuolo J Med Genet 2002; 39: 387-390. doi:10.1136/jmg.39.6.387 [Abstract] [Full text] [PDF] [Request Permissions]
	A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation I Borg, M Squire, C Menzel, K Stout, D Morgan, L Willatt, P C M O'Brien, M A Ferguson-Smith, H H Ropers, N Tommerup, V M Kalscheuer, and D R Sargan J Med Genet 2002; 39: 391-399. doi:10.1136/jmg.39.6.391 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Association of an interleukin 1B gene polymorphism (-511) with Parkinson's disease in Finnish patients K M Mattila, J O Rinne, T Lehtimäki, M Röyttä, J-P Ahonen, and M Hurme J Med Genet 2002; 39: 400-402. doi:10.1136/jmg.39.6.400 [Extract] [Full text] [PDF] [Request Permissions]
	An investigation of ACE as a risk factor for dementia and cognitive decline in the general population A G Yip, C Brayne, D Easton, and D C Rubinsztein J Med Genet 2002; 39: 403-406. doi:10.1136/jmg.39.6.403 [Extract] [Full text] [PDF] [Request Permissions]
	Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort study W D Foulkes, J-S Brunet, N Wong, J Goffin, and P O Chappuis J Med Genet 2002; 39: 407-409. doi:10.1136/jmg.39.6.407 [Extract] [Full text] [PDF] [Request Permissions]
	What do women really want to know? Motives for attending familial breast cancer clinics C J van Asperen, S van Dijk, M W Zoeteweij, D R M Timmermans, G H de Bock, E J Meijers-Heijboer, M F Niermeijer, M H Breuning, J Kievit, and W Otten J Med Genet 2002; 39: 410-414. doi:10.1136/jmg.39.6.410 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome I Coupry, C Roudaut, M Stef, M-A Delrue, M Marche, I Burgelin, L Taine, C Cruaud, D Lacombe, and B Arveiler J Med Genet 2002; 39: 415-421. doi:10.1136/jmg.39.6.415 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation screening of the PKD1 transcript by RT-PCR S Burtey, A M Lossi, J Bayle, Y Berland, and M Fontés J Med Genet 2002; 39: 422-429. doi:10.1136/jmg.39.6.422 [Extract] [Full text] [PDF] [Request Permissions]
	A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 F E Abidi, E Holinski-Feder, O Rittinger, F Kooy, H A Lubs, R E Stevenson, and C E Schwartz J Med Genet 2002; 39: 430-433. doi:10.1136/jmg.39.6.430 [Extract] [Full text] [PDF] [Request Permissions]
	Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes A Weise, H Starke, A Heller, H Tönnies, M Volleth, M Stumm, S Gabriele, A Nietzel, U Claussen, and T Liehr J Med Genet 2002; 39: 434-439. doi:10.1136/jmg.39.6.434 [Extract] [Full text] [PDF] [Request Permissions]
	Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? M Holder-Espinasse, S Marie, G Bourrouillou, I Ceballos-Picot, M-C Nassogne, L Faivre, J Amiel, A Munnich, M-F Vincent, and V Cormier-Daire J Med Genet 2002; 39: 440-442. doi:10.1136/jmg.39.6.440 [Extract] [Full text] [PDF] [Request Permissions]
	Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies V Scotet, M De Braekeleer, M-P Audrézet, I Quéré, B Mercier, I Duguépéroux, J Andrieux, M Blayau, and C Férec J Med Genet 2002; 39: 443-448. doi:10.1136/jmg.39.6.443 [Extract] [Full text] [PDF] [Request Permissions]
	Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss S J Stern, K S Arnos, L Murrelle, K Oelrich Welch, W E Nance, and A Pandya J Med Genet 2002; 39: 449-453. doi:10.1136/jmg.39.6.449 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Catalog of Teratogenic Agents: 10th edition. Thomas H Shepard. Baltimore: The Johns Hopkins University Press. 2001. ISBN 0-8018-6722-3. John C S Dean J Med Genet 2002; 39: 454. doi:10.1136/jmg.39.6.454 [Extract] [Full text] [PDF] [Request Permissions]
	Emery and Rimoin's Principles and Practice of Medical Genetics: 4th edition. Editors D L Rimoin, J M Connor, R E Pyeritz, B R Korf. (Pp 4936; £350.00.) Edinburgh: Churchill-Livingstone. 2002. ISBN 0443064342. Willie Reardon J Med Genet 2002; 39: 454. doi:10.1136/jmg.39.6.454-a [Extract] [Full text] [PDF] [Request Permissions]
	Genetics for Cardiologists: The Molecular Genetic Basis of Cardiovascular Disorders: Ali J Marian. London: ReMedica Publishing. 2001. ISBN 1 901346 09 9. N J Samani J Med Genet 2002; 39: 454-455. doi:10.1136/jmg.39.6.454-b [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	New mutations in hereditary pancreatitis J Med Genet 2002; 39: 399. doi:10.1136/jmg.39.6.399 [Extract] [Full text] [PDF] [Request Permissions]
	HLA-DR4 and risk of spondyloarthropathy J Med Genet 2002; 39: 409. doi:10.1136/jmg.39.6.409 [Extract] [Full text] [PDF] [Request Permissions]
	MICA-A5.1 weighs in with HLA-DR3/DQ2 in coeliac disease J Med Genet 2002; 39: 421. doi:10.1136/jmg.39.6.421 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	A new case of Yq microdeletion transmitted from a normal father to two infertile sons V Gatta, L Stuppia, G Calabrese, E Morizio, P Guanciali-Franchi, and G Palka J Med Genet 2002; 39: e27. doi:10.1136/jmg.39.6.e27 [Extract] [Full text] [PDF] [Request Permissions]
	Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion A H Németh, I W Gallen, M Crocker, E Levy, and E Maher J Med Genet 2002; 39: e28. doi:10.1136/jmg.39.6.e28 [Extract] [Full text] [PDF] [Request Permissions]
	Mismatch repair gene analysis in Catalonian families with colorectal cancer M Palicio, J Balmaña, S González, I Blanco, E Marcuello, M A Peinado, G Julià, J R Germà, J J López López, J Brunet, and G Capellà J Med Genet 2002; 39: e29. doi:10.1136/jmg.39.6.e29 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10 B van der Zwaag, H T F M Verzijl, D Beltran-Valero de Bernabe, V L Schuster, H van Bokhoven, H Kremer, M van Reen, G H Wichers, H G Brunner, and G W Padberg J Med Genet 2002; 39: e30. doi:10.1136/jmg.39.6.e30 [Extract] [Full text] [PDF] [Request Permissions]
	Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada J S Waye, L M Nakamura, B Eng, L Hunnisett, D Chitayat, T Costa, and M J M Nowaczyk J Med Genet 2002; 39: e31. doi:10.1136/jmg.39.6.e31 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Relationship between genotype and phenotype for the CFTR gene W846X mutation I Duguépéroux, G Bellis, C Férec, D Gillet, V Scotet, and M De Braekeleer J Med Genet 2002; 39: e32. doi:10.1136/jmg.39.6.e32 [Extract] [Full text] [PDF] [Request Permissions]
	SHOX point mutations and deletions in Leri-Weill dyschondrosteosis C Falcinelli, L Iughetti, A Percesepe, G Calabrese, F Chiarelli, M Cisternino, L De Sanctis, I Pucarelli, G Radetti, M Wasniewska, G Weber, L Stuppia, S Bernasconi, and A Forabosco J Med Genet 2002; 39: e33. doi:10.1136/jmg.39.6.e33 [Extract] [Full text] [PDF] [Request Permissions]