JMG Online mutation reports

Citations 11-20 of 165 total displayed.

Online mutation reports
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls

P F Chinnery, C Mowbray, S K Patel, J L Elson, M Sampson, G A Hitman, M I McCarthy, A T Hattersley, M Walker
J. Med. Genet. 2007; 44: e80. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, Klaus Zerres
J. Med. Genet. 2007; 44: e81. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets
J. Med. Genet. 2007; 44: e74. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

D 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, C Hartzell, M Abitbol
J. Med. Genet. 2007 44: e70 ; published online before print as 10.1136/jmg.2006.044511 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Online mutation report
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres

Daniela Rossi, Patrick De Smet, Alla Lyfenko, Lucia Galli, Stefania Lorenzini, Daniela Franci, Francesco Petrioli, Alfredo Orrico, Corrado Angelini, Vincenzo Tegazzin, Robert Dirksen, Vincenzo Sorrentino
J. Med. Genet. 2007; 44: e67. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
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 family

A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino
J. Med. Genet. 2006; 43: e58. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494CT mutation in the mitochondrial 12S rRNA gene

M 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
J. Med. Genet. 2006; 43: e54. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

E Aller, T Jaijo, M Beneyto, C Nájera, S Oltra, C Ayuso, M Baiget, M Carballo, G Antiñolo, D Valverde, F Moreno, C Vilela, D Collado, H Pérez-Garrigues, A Navea, J M Millán
J. Med. Genet. 2006; 43: e55. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy

S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, S Ganesh
J. Med. Genet. 2006; 43: e48. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
The contribution of germline rearrangements to the spectrum of BRCA2 mutations

F Casilli, I Tournier, O M Sinilnikova, F Coulet, F Soubrier, C Houdayer, A Hardouin, P Berthet, H Sobol, V Bourdon, D Muller, J P Fricker, C Capoulade-Metay, A Chompret, C Nogues, S Mazoyer, P Chappuis, P Maillet, C Philippe, A Lortholary, P Gesta, S Bézieau, C Toulas, L Gladieff, C M Maugard, D M Provencher, C Dugast, C Delvincourt, T D Nguyen, L Faivre, V Bonadona, T Frébourg, R Lidereau, D Stoppa-Lyonnet, M Tosi
J. Med. Genet. 2006; 43: e49. [Abstract] [Full text] [PDF] [Request Permissions]