Tiab L - Search Results

1

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.

2

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: tiab l. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338

3

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.

4

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

5

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.

6

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.

7

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL. Schorderet DF, et al. Among authors: tiab l. Hum Mutat. 2007 May;28(5):525. doi: 10.1002/humu.9492. Hum Mutat. 2007. PMID: 17397053

8

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.

9

Franceschetti hereditary recurrent corneal erosion.

Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Lisch W, et al. Among authors: tiab l. Am J Ophthalmol. 2012 Jun;153(6):1073-81.e4. doi: 10.1016/j.ajo.2011.12.011. Epub 2012 Mar 7. Am J Ophthalmol. 2012. PMID: 22402249

10

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.

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