JMG Online mutation reports

Showing results 21 - 30 of 100

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TitleAuthorDate

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 NaveaSee the full list of authors

3 November 2006

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

1 September 2006

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 NoguesSee the full list of authors

1 September 2006

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

R J Richardson, S Joss, S Tomkin, M Ahmed, E Sheridan, M J Dixon

30 June 2006

The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, A Baruzzi, V Carelli

30 June 2006

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

D O Robinson, A J Wills, S R Hammans, S P Read, J Sillibourne

28 April 2006

Mutations responsible for Larsen syndrome cluster in the FLNB protein

D Zhang, J A Herring, S S Swaney, T B McClendon, X Gao, R H Browne, K E Rathjen, C E Johnston, S Harris, N M Cain, C A Wise