Dufier JL - Search Results

1

Mitochondrial ND5 mutations mimicking brainstem tectal glioma.

Rio M, Lebre AS, de Lonlay P, Valayannopoulos V, Desguerre I, Dufier JL, Grévent D, Zilbovicius M, Tréguier C, Brunelle F, de Baracé C, Kaplan J, Espinase-Berrod MA, Sainte-Rose C, Puget S, Rotig A, Munnich A, Boddaert N. Rio M, et al. Among authors: dufier jl. Neurology. 2010 Jul 6;75(1):93. doi: 10.1212/WNL.0b013e3181e6214a. Neurology. 2010. PMID: 20603491 No abstract available.

2

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P. Valayannopoulos V, et al. Among authors: dufier jl. Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31. Mol Genet Metab. 2009. PMID: 19345633

3

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. Hanein S, et al. Among authors: dufier jl. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327736 Free PMC article.

4

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: dufier jl. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

5

Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.

Souied EH, Rozet JM, Gerber S, Dufier JL, Soubrane G, Coscas G, Munnich A, Kaplan J. Souied EH, et al. Among authors: dufier jl. Eur J Ophthalmol. 1998 Apr-Jun;8(2):98-101. doi: 10.1177/112067219800800208. Eur J Ophthalmol. 1998. PMID: 9673478

6

NDP gene mutations in 14 French families with Norrie disease.

Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. Royer G, et al. Among authors: dufier jl. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119

7

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

Perrault I, Hanein S, Gerber S, Barbet F, Dufier JL, Munnich A, Rozet JM, Kaplan J. Perrault I, et al. Among authors: dufier jl. J Med Genet. 2003 Jul;40(7):e90. doi: 10.1136/jmg.40.7.e90. J Med Genet. 2003. PMID: 12843339 Free PMC article. No abstract available.

8

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J. Kaplan J, et al. Among authors: dufier jl. Ann Genet. 1990;33(3):152-4. Ann Genet. 1990. PMID: 2288459

9

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM. Gerber S, et al. Among authors: dufier jl. Hum Mutat. 2007 Dec;28(12):1245. doi: 10.1002/humu.9513. Hum Mutat. 2007. PMID: 18000884

10

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.

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