Ducroq D - Search Results

1

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: ducroq d. J Med Genet. 1999 Jun;36(6):447-51. J Med Genet. 1999. PMID: 10874631 Free PMC article.

2

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, Ducroq D, Dufier J, Munnich A, Rozet J, Kaplan J. Gerber S, et al. Among authors: ducroq d. Ophthalmic Genet. 2002 Dec;23(4):225-35. doi: 10.1076/opge.23.4.225.13879. Ophthalmic Genet. 2002. PMID: 12567265

3

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: ducroq d. Eur J Hum Genet. 2003 Dec;11(12):966-71. doi: 10.1038/sj.ejhg.5201070. Eur J Hum Genet. 2003. PMID: 14508503

4

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: ducroq d. Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322982 Free PMC article.

5

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.

Ducroq D, Shalev S, Habib A, Munnich A, Kaplan J, Rozet JM. Ducroq D, et al. Eur J Hum Genet. 2006 Dec;14(12):1269-73. doi: 10.1038/sj.ejhg.5201691. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896346

6

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J. Cabot A, et al. Among authors: ducroq d. Am J Hum Genet. 1999 Apr;64(4):1141-6. doi: 10.1086/302324. Am J Hum Genet. 1999. PMID: 10090899 Free PMC article.

7

Leber congenital amaurosis.

Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: ducroq d. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.

8

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

Rozet JM, Gerber S, Souied E, Ducroq D, Perrault I, Ghazi I, Soubrane G, Coscas G, Dufier JL, Munnich A, Kaplan J. Rozet JM, et al. Among authors: ducroq d. Mol Genet Metab. 1999 Oct;68(2):310-5. doi: 10.1006/mgme.1999.2925. Mol Genet Metab. 1999. PMID: 10527682 Review. No abstract available.

9

ABCR gene analysis in familial exudative age-related macular degeneration.

Souied EH, Ducroq D, Rozet JM, Gerber S, Perrault I, Munnich A, Coscas G, Soubrane G, Kaplan J. Souied EH, et al. Among authors: ducroq d. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):244-7. Invest Ophthalmol Vis Sci. 2000. PMID: 10634626

10

Spectrum of retGC1 mutations in Leber's congenital amaurosis.

Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: ducroq d. Eur J Hum Genet. 2000 Aug;8(8):578-82. doi: 10.1038/sj.ejhg.5200503. Eur J Hum Genet. 2000. PMID: 10951519

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