Schorderet DF - Search Results

1

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Macari F, et al. Among authors: schorderet df. Am J Hum Genet. 2000 Nov;67(5):1296-301. doi: 10.1016/S0002-9297(07)62957-7. Epub 2000 Oct 3. Am J Hum Genet. 2000. PMID: 11017804 Free PMC article.

2

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A.

Monney CT, Kaltenrieder V, Cousin P, Bonny C, Schorderet DF. Monney CT, et al. Among authors: schorderet df. Hum Mutat. 2002 Sep;20(3):230-1. doi: 10.1002/humu.9050. Hum Mutat. 2002. PMID: 12203996

3

Molecular characterization of the deletion in retinoblastoma patients with 13q14 cytogenetic anomalies.

Lavanchy L, Munier FL, Cousin P, Gaide AC, Thonney F, Schorderet DF. Lavanchy L, et al. Among authors: schorderet df. Ophthalmic Genet. 2001 Mar;22(1):1-10. doi: 10.1076/opge.22.1.1.2236. Ophthalmic Genet. 2001. PMID: 11262644

4

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

5

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland.

Mataftsi A, Achache F, Héon E, Mermoud A, Cousin P, Metthez G, Schorderet DF, Munier FL. Mataftsi A, et al. Among authors: schorderet df. Ophthalmic Genet. 2001 Dec;22(4):225-31. doi: 10.1076/opge.22.4.225.2218. Ophthalmic Genet. 2001. PMID: 11803488

6

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D. Huber M, et al. Among authors: schorderet df. Science. 1995 Jan 27;267(5197):525-8. doi: 10.1126/science.7824952. Science. 1995. PMID: 7824952

7

Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.

Schorderet DF, Huber M, Laurini RN, Von Moos G, Gianadda B, Délèze G, Hohl D. Schorderet DF, et al. Prenat Diagn. 1997 May;17(5):483-6. doi: 10.1002/(sici)1097-0223(199705)17:5<483::aid-pd80>3.0.co;2-4. Prenat Diagn. 1997. PMID: 9178327

8

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.

9

Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.

Zankl A, Addor MC, Cousin P, Gaide AC, Gudinchet F, Schorderet DF. Zankl A, et al. Among authors: schorderet df. Eur J Pediatr. 2001 May;160(5):296-9. doi: 10.1007/s004310100738. Eur J Pediatr. 2001. PMID: 11388598

10

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. Among authors: schorderet df. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. Invest Ophthalmol Vis Sci. 2002. PMID: 11923233

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