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Online mutation reports
Citations 1-10 of 147 total displayed.
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Most recent content
(1 Sep 2006):
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- 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, and S Ganesh
J Med Genet 2006; 43: e48.
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- 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, and M Tosi
J Med Genet 2006; 43: e49.
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Past content
(since Jun 2002):
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- Online mutation reports
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, and M J Dixon
J Med Genet 2006; 43: e37.
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- Online mutation reports
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, and V Carelli
J Med Genet 2006; 43: e38.
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- Online mutation reports
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, and J Sillibourne
J Med Genet 2006; 43: e23.
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- Online mutation reports
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, and C A Wise
J Med Genet 2006; 43: e24.
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- Online mutation reports
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
- C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, and K Zerres
J Med Genet 2005; 42: e63.
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[ Web-only tables ]
- Online mutation reports
Large genomic deletions inactivate the BRCA2 gene in breast cancer families
- S Agata, M Dalla Palma, M Callegaro, M C Scaini, C Menin, C Ghiotto, O Nicoletto, G Zavagno, L Chieco-Bianchi, E D’Andrea, and M Montagna
J Med Genet 2005; 42: e64.
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- Online mutation reports
Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the  chain globular domain impairing fibrinogen secretion
- D Vu, P de Moerloose, A Batorova, J Lazur, L Palumbo, and M Neerman-Arbez
J Med Genet 2005; 42: e57.
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- Online mutation reports
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
- H Rosewich, A Ohlenbusch, and J Gärtner
J Med Genet 2005; 42: e58.
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