Schorderet DF - 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: schorderet df. 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

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.

Ren Z, Lin PY, Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF. Ren Z, et al. Among authors: schorderet df. Hum Genet. 2002 Jun;110(6):568-77. doi: 10.1007/s00439-002-0729-z. Epub 2002 Apr 20. Hum Genet. 2002. PMID: 12107443

3

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Jiao X, Munier FL, Schorderet DF, Zografos L, Smith J, Rubin B, Hejtmancik JF. Jiao X, et al. Among authors: schorderet df. Hum Genet. 2003 May;112(5-6):593-9. doi: 10.1007/s00439-002-0905-1. Epub 2003 Feb 27. Hum Genet. 2003. PMID: 12607114

4

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: schorderet df. 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.

5

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: schorderet df. Am J Hum Genet. 1998 Feb;62(2):320-4. doi: 10.1086/301720. Am J Hum Genet. 1998. PMID: 9463327 Free PMC article.

6

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Jiao X, et al. Among authors: schorderet df. Am J Hum Genet. 2000 Nov;67(5):1309-13. doi: 10.1016/S0002-9297(07)62960-7. Epub 2000 Sep 21. Am J Hum Genet. 2000. PMID: 11001583 Free PMC article.

7

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

Nichini O, Manzi Vd, Munier FL, Schorderet DF. Nichini O, et al. Among authors: schorderet df. Ophthalmic Genet. 2005 Dec;26(4):169-73. doi: 10.1080/13816810500374391. Ophthalmic Genet. 2005. PMID: 16352477

8

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. Among authors: schorderet df. Nat Genet. 1997 Mar;15(3):247-51. doi: 10.1038/ng0397-247. Nat Genet. 1997. PMID: 9054935

9

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF. Boutboul S, et al. Among authors: schorderet df. Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331. Hum Mutat. 2006. PMID: 16652336

10

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Zeitz C, et al. Among authors: schorderet df. Am J Hum Genet. 2006 Oct;79(4):657-67. doi: 10.1086/508067. Epub 2006 Aug 23. Am J Hum Genet. 2006. PMID: 16960802 Free PMC article.

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