Dufier JL - Search Results

1

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Among authors: dufier jl. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

2

Ocular changes in some progressive hereditary nephropathies.

Dufier JL, Orssaud D, Dhermy P, Gubler MC, Gagnadoux MF, Kleinknecht C, Broyer M. Dufier JL, et al. Pediatr Nephrol. 1987 Jul;1(3):525-30. doi: 10.1007/BF00849264. Pediatr Nephrol. 1987. PMID: 3153327

3

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: dufier jl. Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308. Nat Genet. 1993. PMID: 8275096

4

Ocular changes in long-term evolution of infantile cystinosis.

Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M. Dufier JL, et al. Ophthalmic Paediatr Genet. 1987 Jun;8(2):131-7. doi: 10.3109/13816818709028529. Ophthalmic Paediatr Genet. 1987. PMID: 3658340

5

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: dufier jl. Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447. Hum Mol Genet. 1995. PMID: 7581387

6

Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.

Dureau P, Broyer M, Dufier JL. Dureau P, et al. Among authors: dufier jl. J Pediatr Ophthalmol Strabismus. 2003 May-Jun;40(3):142-6. doi: 10.3928/0191-3913-20030501-07. J Pediatr Ophthalmol Strabismus. 2003. PMID: 12795432

7

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

Gerber S, Rozet JM, Bonneau D, Souied E, Camuzat A, Dufier JL, Amalric P, Weissenbach J, Munnich A, Kaplan J. Gerber S, et al. Among authors: dufier jl. Am J Hum Genet. 1995 Feb;56(2):396-9. Am J Hum Genet. 1995. PMID: 7847373 Free PMC article.

8

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. Barbet F, et al. Among authors: dufier jl. Eur J Hum Genet. 2003 Dec;11(12):966-71. doi: 10.1038/sj.ejhg.5201070. Eur J Hum Genet. 2003. PMID: 14508503

9

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier JL, Munnich A, Frezal J, Kaplan J. Gerber S, et al. Among authors: dufier jl. J Med Genet. 1994 Mar;31(3):222-3. doi: 10.1136/jmg.31.3.222. J Med Genet. 1994. PMID: 8014971 Free PMC article.

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: dufier jl. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027

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