Munier FL - Search Results

1

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Li A, et al. Among authors: munier fl. Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23. Am J Hum Genet. 2004. PMID: 15042513 Free PMC article.

2

[Oncogenes and anti-oncogenes: the genetics of cancer].

Schorderet DF, Munier FL. Schorderet DF, et al. Among authors: munier fl. Praxis (Bern 1994). 1996 Aug 27;85(35):1019-22. Praxis (Bern 1994). 1996. PMID: 8848670 French.

3

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX.

Korvatska E, Munier FL, Zografos L, Ahmad F, Faggioni R, Dolivo-Beuret A, Uffer S, Pescia G, Schorderet DF. Korvatska E, et al. Among authors: munier fl. Eur J Hum Genet. 1996;4(4):214-8. doi: 10.1159/000472201. Eur J Hum Genet. 1996. PMID: 8875187

4

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Piguet B, et al. Among authors: munier fl. Ophthalmic Genet. 1996 Dec;17(4):175-86. doi: 10.3109/13816819609057891. Ophthalmic Genet. 1996. PMID: 9010868

5

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Munier FL, et al. Nat Genet. 1997 Mar;15(3):247-51. doi: 10.1038/ng0397-247. Nat Genet. 1997. PMID: 9054935

6

Mutation hot spots in 5q31-linked corneal dystrophies.

Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF. Korvatska E, et al. Among authors: munier fl. Am J Hum Genet. 1998 Feb;62(2):320-4. doi: 10.1086/301720. Am J Hum Genet. 1998. PMID: 9463327 Free PMC article.

7

[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].

Lefèvre A, Hiroz C, Zografos L, Schorderet DF, Munier FL. Lefèvre A, et al. Among authors: munier fl. Klin Monbl Augenheilkd. 1998 May;212(5):301-4. Klin Monbl Augenheilkd. 1998. PMID: 9677562 French.

8

Gene localization for aculeiform cataract, on chromosome 2q33-35.

Héon E, Liu S, Billingsley G, Bernasconi O, Tsilfidis C, Schorderet DF, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 1998 Sep;63(3):921-6. doi: 10.1086/302005. Am J Hum Genet. 1998. PMID: 9718335 Free PMC article. No abstract available.

9

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL. Millá E, et al. Among authors: munier fl. Ophthalmic Genet. 1998 Sep;19(3):131-9. doi: 10.1076/opge.19.3.131.2183. Ophthalmic Genet. 1998. PMID: 9810568

10

Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.

Munier FL, Thonney F, Girardet A, Balmer A, Claustre M, Pellestor F, Senn A, Pescia G, Schorderet DF. Munier FL, et al. Am J Hum Genet. 1998 Dec;63(6):1903-8. doi: 10.1086/302138. Am J Hum Genet. 1998. PMID: 9837842 Free PMC article. No abstract available.

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