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Dernières publications

Pubmed
2016
Identifying mutations in Tunisian families with retinal dystrophy.
Habibi I, Chebil A, Falfoul Y, Allaman-Pillet N, Kort F, Schorderet DF, El Matri L.
Sci Rep. 2016 Nov 22;6:37455. doi: 10.1038/srep37455.

Pubmed
2016
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andreasson S, Munier FL, Rivolta C.
Hum Mol Genet. 2016 Oct 15;25(20):4546-4555

Pubmed
2017
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Habibi I, Chebil A, Kort F, Schorderet DF, El Matri L.
Ophthalmic Genet. 2017 Jan 17:1-4. doi: 10.1080/13816810.2016.1275020.

Pubmed
2017
Bigh3 silencing increases retinoblastoma tumor growth in the murine SV40-TAg-Rb model.
Allaman-Pillet N, Oberson A, Schorderet DF.
Oncotarget. 2017 Jan 14. doi: 10.18632/oncotarget.14659. [Epub ahead of print]

Pubmed
2017
Prominent Optic Disc Featured in Inherited Retinopathy.
Todorova MG, Bojinova RI, Valmaggia C, Schorderet DF
Klin Monbl Augenheilkd. 2017 Feb 1. doi: 10.1055/s-0042-121335. [Epub ahead of print]