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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: schorderet df. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488
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.
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: schorderet df. 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.
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. Héon E, et al. Among authors: schorderet df. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619. Am J Hum Genet. 1999. PMID: 10521291 Free PMC article.
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.
286 results