Dollfus H - Search Results

1

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: dollfus h. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Hum Mutat. 2007. PMID: 17345604

2

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, Ghazi I, Dufier JL, Frézal J, et al. Kaplan J, et al. Among authors: dollfus h. Genomics. 1992 Dec;14(4):979-87. doi: 10.1016/s0888-7543(05)80120-x. Genomics. 1992. PMID: 1478676

3

Mapping the eye diseases.

Frézal J, Kaplan J, Dollfus H. Frézal J, et al. Among authors: dollfus h. Ophthalmic Paediatr Genet. 1992 Jun;13(2):37-47. doi: 10.3109/13816819209087603. Ophthalmic Paediatr Genet. 1992. PMID: 1495766 Review.

4

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Camuzat A, Dollfus H, Rozet JM, Gerber S, Bonneau D, Bonnemaison M, Briard ML, Dufier JL, Ghazi I, Leowski C, et al. Camuzat A, et al. Among authors: dollfus h. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387

5

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.

Larget-Piet D, Rozet JM, Gerber S, Dollfus H, Munnich A, Kaplan J. Larget-Piet D, et al. Among authors: dollfus h. Hum Mol Genet. 1993 Dec;2(12):2201. doi: 10.1093/hmg/2.12.2201-a. Hum Mol Genet. 1993. PMID: 8111401 No abstract available.

6

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, Postel-Vinay A, Janin N, Briard ML, et al. Kaplan J, et al. Among authors: dollfus h. Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308. Nat Genet. 1993. PMID: 8275096

7

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.

Dollfus H, Rozet JM, Musarella MA, Kaplan J, Munnich A. Dollfus H, et al. Hum Mol Genet. 1993 Jul;2(7):1081. doi: 10.1093/hmg/2.7.1081. Hum Mol Genet. 1993. PMID: 8364556 No abstract available.

8

Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).

Dollfus H, Mattei MG, Rozet JM, Delrieu O, Munnich A, Kaplan J. Dollfus H, et al. Genomics. 1993 Aug;17(2):526-8. doi: 10.1006/geno.1993.1364. Genomics. 1993. PMID: 8406511 No abstract available.

9

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Camuzat A, Rozet JM, Dollfus H, Gerber S, Perrault I, Weissenbach J, Munnich A, Kaplan J. Camuzat A, et al. Among authors: dollfus h. Hum Genet. 1996 Jun;97(6):798-801. doi: 10.1007/BF02346192. Hum Genet. 1996. PMID: 8641699

10

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Perrault I, et al. Among authors: dollfus h. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027

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