Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutationsRichard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, Nazneen Rahman
29 June 2007
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous featuresOddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, Anders Molven
29 June 2007
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataractSurya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran
29 June 2007
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controlsP F Chinnery, C Mowbray, S K Patel, J L Elson, M Sampson, G A Hitman, M I McCarthy, A T Hattersley, M Walker
5 June 2007
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsMiriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, Klaus Zerres
5 June 2007
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseM J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets
30 March 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophyD Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister
See the full list of authors7 February 2007
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibresDaniela Rossi, Patrick De Smet, Alla Lyfenko, Lucia Galli, Stefania Lorenzini, Daniela Franci, Francesco Petrioli, Alfredo Orrico, Corrado Angelini, Vincenzo Tegazzin, Robert Dirksen, Vincenzo Sorrentino
9 February 2007
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same familyA Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino
1 December 2006
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA geneM Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo
3 November 2006