Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the γ chain globular domain impairing fibrinogen secretionD Vu, P de Moerloose, A Batorova, J Lazur, L Palumbo, M Neerman-Arbez
1 September 2005
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidismK J Bradley, B M Cavaco, M R Bowl, B Harding, A Young, R V Thakker
1 August 2005
Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai populationC Srichomthong, P Siriwan, V Shotelersuk
1 July 2005
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian familiesC Ziviello, F Simonelli, F Testa, M Anastasi, S B Marzoli, B Falsini, D Ghiglione, C Macaluso, M P Manitto, C Garrè, A Ciccodicola, E Rinaldi, S Banfi
1 July 2005
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish populationJ C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson
29 April 2005
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected familiesA M Woodward, T A Davis, A G S Silva, J A Kirk, J A Leary
29 April 2005
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiencyM Bugiani, V Tiranti, L Farina, G Uziel, M Zeviani
29 April 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathyT Rossenbacker, E Schollen, C Kuipéri, T J L de Ravel, K Devriendt, G Matthijs, D Collen, H Heidbüchel, P Carmeliet
29 April 2005
A missense mutation in the type II hair keratin hHb3 is associated with monilethrixM A M van Steensel, P M Steijlen, R S Bladergroen, M Vermeer, M van Geel
2 March 2005
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutationsB Leegte, A H van der Hout, A M Deffenbaugh, M K Bakker, I M Mulder, A ten Berge, E P Leenders, J Wesseling, J de Hullu, N Hoogerbrugge, M J L Ligtenberg, A Ardern-Jones, E Bancroft, A Salmon, J Barwell
See the full list of authors2 March 2005