Tiab L - Search Results

1

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.

Vaclavik V, Tiab L, Sun YJ, Mahajan VB, Moulin A, Allaman-Pillet N, Munier FL, Schorderet DF. Vaclavik V, et al. Among authors: tiab l. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):23. doi: 10.1167/iovs.63.3.23. Invest Ophthalmol Vis Sci. 2022. PMID: 35333290 Free PMC article.

2

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.

Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL. Vaclavik V, et al. Among authors: tiab l. Mol Vis. 2010 Mar 19;16:467-75. Mol Vis. 2010. PMID: 20309403 Free PMC article.

3

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. Michaelides M, et al. Among authors: tiab l. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14. Invest Ophthalmol Vis Sci. 2010. PMID: 20393116 Free PMC article.

4

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF. Tiab L, et al. Mol Vis. 2013 Apr 5;19:829-34. Print 2013. Mol Vis. 2013. PMID: 23592920 Free PMC article.

5

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF. Escher P, et al. Among authors: tiab l. Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858. Hum Mutat. 2009. PMID: 19006237 Free PMC article.

6

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P. Schorderet DF, et al. Among authors: tiab l. Biomed Res Int. 2013;2013:198089. doi: 10.1155/2013/198089. Epub 2012 Dec 26. Biomed Res Int. 2013. PMID: 23484092 Free PMC article. Clinical Trial.

7

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.

Schorderet DF, Bernasconi M, Tiab L, Favez T, Escher P. Schorderet DF, et al. Among authors: tiab l. Adv Exp Med Biol. 2014;801:171-6. doi: 10.1007/978-1-4614-3209-8_22. Adv Exp Med Biol. 2014. PMID: 24664695

8

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA, Forster RK, Hejtmancik JF, Schorderet DF. Li S, et al. Among authors: tiab l. Am J Hum Genet. 2005 Jul;77(1):54-63. doi: 10.1086/431346. Epub 2005 May 18. Am J Hum Genet. 2005. PMID: 15902656 Free PMC article.

9

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL. Schorderet DF, et al. Among authors: tiab l. Am J Hum Genet. 2008 May;82(5):1178-84. doi: 10.1016/j.ajhg.2008.03.007. Am J Hum Genet. 2008. PMID: 18423520 Free PMC article.

10

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.

Tiab L, d'Allèves Manzi V, Borruat FX, Munier F, Schorderet D. Tiab L, et al. Ophthalmic Genet. 2004 Dec;25(4):241-6. doi: 10.1080/13816810490902828. Ophthalmic Genet. 2004. PMID: 15621876

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