To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

Reviews

	Referral for cancer genetics consultation: a review and compilation of risk assessment criteria H Hampel, K Sweet, J A Westman, K Offit, and C Eng J Med Genet 2004; 41: 81-91. doi:10.1136/jmg.2003.010918 [Abstract] [Full text] [PDF] [Request Permissions]
	Mulibrey nanism: clinical features and diagnostic criteria N Karlberg, H Jalanko, J Perheentupa, and M Lipsanen-Nyman J Med Genet 2004; 41: 92-98. doi:10.1136/jmg.2003.014118 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	A study of gene–environment interaction on the gene for angiotensin converting enzyme: a combined functional and population based approach F A Sayed-Tabatabaei, A F C Schut, A Hofman, A M Bertoli-Avella, J Vergeer, J C M Witteman, and C M van Duijn J Med Genet 2004; 41: 99-103. doi:10.1136/jmg.2003.013441 [Abstract] [Full text] [PDF] [Request Permissions]
	The allelic modulation of apolipoprotein E expression by oestrogen: potential relevance for Alzheimer’s disease J-C Lambert, N Coyle, and C Lendon J Med Genet 2004; 41: 104-112. doi:10.1136/jmg.2003.005033 [Abstract] [Full text] [PDF] [Request Permissions]
	Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders C J Shaw, C A Shaw, W Yu, P Stankiewicz, L D White, A L Beaudet, and J R Lupski J Med Genet 2004; 41: 113-119. doi:10.1136/jmg.2003.012831 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, J Smet, and R Van Coster J Med Genet 2004; 41: 120-124. doi:10.1136/jmg.2003.012047 [Abstract] [Full text] [PDF] [Request Permissions]
	MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation K Szigeti, L-J C Wong, C-L Perng, G M Saifi, K Eldin, A M Adesina, D L Cass, M Hirano, J R Lupski, and F Scaglia J Med Genet 2004; 41: 125-129. doi:10.1136/jmg.2003.013789 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation N Harada, E Hatchwell, N Okamoto, M Tsukahara, K Kurosawa, H Kawame, T Kondoh, H Ohashi, R Tsukino, Y Kondoh, O Shimokawa, T Ida, T Nagai, Y Fukushima, K Yoshiura, N Niikawa, and N Matsumoto J Med Genet 2004; 41: 130-136. doi:10.1136/jmg.2003.014639 [Extract] [Full text] [PDF] [Request Permissions]
	Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis S Molleran Lee, J Villanueva, J Sumegi, K Zhang, K Kogawa, J Davis, and A H Filipovich J Med Genet 2004; 41: 137-144. doi:10.1136/jmg.2003.011528 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Psychiatric genetics: methods and reviews N Craddock J Med Genet 2004; 41: 129. doi:10.1136/jmg.2003.013375 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2004; 41: 98. doi:10.1136/jmg.2003.010363corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure E Matichard, P Verpillat, R Meziani, B Gérard, V Descamps, E Legroux, M Burnouf, G Bertrand, F Bouscarat, A Archimbaud, C Picard, L Ollivaud, N Basset-Seguin, D Kerob, G Lanternier, C Lebbe, B Crickx, B Grandchamp, and N Soufir J Med Genet 2004; 41: e13. doi:10.1136/jmg.2003.011536 [Extract] [Full text] [PDF] [Request Permissions]
	A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci S Modamio-Høybjør, M A Moreno-Pelayo, A Mencía, I del Castillo, S Chardenoux, D Morais, M Lathrop, C Petit, and F Moreno J Med Genet 2004; 41: e14. doi:10.1136/jmg.2003.012500 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, and M Vikkula J Med Genet 2004; 41: e15. doi:10.1136/jmg.2003.009274 [Extract] [Full text] [PDF] [Request Permissions]
	Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity P Cerruti Mainardi, G Pastore, C Zweier, and A Rauch J Med Genet 2004; 41: e16. doi:10.1136/jmg.2003.009548 [Extract] [Full text] [PDF] [Request Permissions]
	Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype M M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, and M Zatz J Med Genet 2004; 41: e17. doi:10.1136/jmg.2003.010637 [Extract] [Full text] [PDF] [Request Permissions]
	Loss of five amino acids in BRCA2 is associated with ovarian cancer S L Martinez, J Herzog, and J N Weitzel J Med Genet 2004; 41: e18. doi:10.1136/jmg.2003.010827 [Extract] [Full text] [PDF] [Request Permissions]
	Mitochondrial DNA deletion in "identical" twin brothers E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, and D M Turnbull J Med Genet 2004; 41: e19. doi:10.1136/jmg.2003.011296 [Extract] [Full text] [PDF] [Request Permissions]
	Achromatopsia caused by novel mutations in both CNGA3 and CNGB3 S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, and D M Hunt J Med Genet 2004; 41: e20. doi:10.1136/jmg.2003.011437 [Extract] [Full text] [PDF] [Request Permissions]
	Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families D G R Evans, S L Neuhausen, M Bulman, K Young, D Gokhale, and F Lalloo J Med Genet 2004; 41: e21. doi:10.1136/jmg.2003.012104 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.