Munier FL - Search Results

1

Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Abouzeid H, Schorderet DF, Balmer A, Munier FL. Abouzeid H, et al. Among authors: munier fl. Mol Vis. 2009;15:771-7. Epub 2009 Apr 17. Mol Vis. 2009. PMID: 19390654 Free PMC article.

2

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Escher P, Passarin O, Munier FL, Tran VH, Vaclavik V. Escher P, et al. Among authors: munier fl. Ophthalmic Genet. 2018 Jan-Feb;39(1):80-86. doi: 10.1080/13816810.2017.1393825. Epub 2017 Oct 31. Ophthalmic Genet. 2018. PMID: 29087248

3

BIGH3 mutation spectrum in corneal dystrophies.

Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF. Munier FL, et al. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. Invest Ophthalmol Vis Sci. 2002. PMID: 11923233

4

Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees.

Munier FL, Wang MX, Spence MA, Thonney F, Balmer A, Pescia G, Donoso LA, Murphree AL. Munier FL, et al. Arch Ophthalmol. 1993 Nov;111(11):1507-11. doi: 10.1001/archopht.1993.01090110073028. Arch Ophthalmol. 1993. PMID: 8240106

5

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].

Chebil A, Falfoul Y, Habibi I, Munier F, Schorderet D, El Matri L. Chebil A, et al. J Fr Ophtalmol. 2016 Mar;39(3):277-86. doi: 10.1016/j.jfo.2015.08.013. Epub 2016 Feb 9. J Fr Ophtalmol. 2016. PMID: 26868535 French.

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: munier fl. Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858. Hum Mutat. 2009. PMID: 19006237 Free PMC article.

7

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF. Abouzeid H, et al. Among authors: munier fl. Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194680 Free PMC article.

8

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, Andréasson S, Munier FL, Rivolta C. Bedoni N, et al. Among authors: munier fl. Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282. Hum Mol Genet. 2016. PMID: 28173158

9

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Among authors: munier fl. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.

10

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P. von Alpen D, et al. Among authors: munier fl. Hum Mutat. 2015 Jun;36(6):599-610. doi: 10.1002/humu.22775. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25703721 Free PMC article.

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