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D Ducroq

Explore the profile of D Ducroq including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 14
Citations 396
Followers 0
Related Specialties
Genetics
Ophthalmology
Endocrinology
Top 10 Co-Authors
S Gerber
J Kaplan
I Perrault
A Munnich
J M Rozet
E Souied
I Ghazi
J L Dufier
G Coscas
C Leowski
Published In
Invest Ophthalmol Vis Sci
Am J Hum Genet
Mol Genet Metab
J Med Genet
Eur J Hum Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
[Hereditary macular dystrophies]
Rozet J, Gerber S, Ducroq D, Hamel C, Dufier J, Kaplan J
J Fr Ophtalmol . 2005 Mar; 28(1):113-24. PMID: 15767907
Hereditary macular dystrophies are degenerative diseases of the central area of the retina associating primary anomalies of the retinal pigment epithelium and sensory retina. These conditions, whose hallmark is a...
2.
A third locus for dominant optic atrophy on chromosome 22q
Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, et al.
J Med Genet . 2005 Jan; 42(1):e1. PMID: 15635063
No abstract available.
3.
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, et al.
Eur J Hum Genet . 2001 Aug; 9(8):561-71. PMID: 11528500
Leber congenital amaurosis (LCA) is a genetically heterogeneous autosomal recessive condition responsible for congenital blindness or greatly impaired vision since birth. So far, six LCA loci have been mapped but...
4.
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)
Rozet J, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, et al.
Invest Ophthalmol Vis Sci . 2001 May; 42(6):1190-2. PMID: 11328726
Purpose: Leber congenital amaurosis (LCA) is the earliest and the most severe form of all inherited retinal dystrophies. In 1996, the current investigators ascribed the disease in families linked to...
5.
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
Gerber S, Rozet J, Takezawa S, Dos Santos L, Lopes L, Gribouval O, et al.
Hum Genet . 2000 Nov; 107(3):276-84. PMID: 11071390
The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives....
6.
Spectrum of retGC1 mutations in Leber's congenital amaurosis
Perrault I, Rozet J, Gerber S, Ghazi I, Ducroq D, Souied E, et al.
Eur J Hum Genet . 2000 Aug; 8(8):578-82. PMID: 10951519
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report...
7.
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 J, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, et al.
J Med Genet . 2000 Jun; 36(6):447-51. PMID: 10874631
Stargardt disease (STGD) is an autosomal recessive macular dystrophy of childhood characterised by bilateral loss of central vision over a period of several months. STGD has been mapped to chromosome...
8.
ABCR gene analysis in familial exudative age-related macular degeneration
Souied E, Ducroq D, Rozet J, Gerber S, Perrault I, Munnich A, et al.
Invest Ophthalmol Vis Sci . 2000 Jan; 41(1):244-7. PMID: 10634626
Purpose: Identification of genetic factors in the pathogenesis of age-related macular degeneration (AMD) is of crucial importance in this common cause of blindness. Mutations in the Stargardt disease gene (ABCR)...
9.
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly
Rozet J, Gerber S, Souied E, Ducroq D, Perrault I, Ghazi I, et al.
Mol Genet Metab . 1999 Oct; 68(2):310-5. PMID: 10527682
No abstract available.
10.
Leber congenital amaurosis
Perrault I, Rozet J, Gerber S, Ghazi I, Leowski C, Ducroq D, et al.
Mol Genet Metab . 1999 Oct; 68(2):200-8. PMID: 10527670
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report...