I Perrault
Overview
Explore the profile of I Perrault including associated specialties, affiliations and a list of published articles.
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30
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904
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Recent Articles
11.
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...
12.
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...
13.
Sohocki M, Perrault I, Leroy B, Payne A, Dharmaraj S, Bhattacharya S, et al.
Mol Genet Metab
. 2000 Jun;
70(2):142-50.
PMID: 10873396
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal...
14.
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)...
15.
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.
16.
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...
17.
Souied E, Ducroq D, Rozet J, Gerber S, Perrault I, Sterkers M, et al.
Invest Ophthalmol Vis Sci
. 1999 Oct;
40(11):2740-4.
PMID: 10509673
Purpose: To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM). Methods: A complete ophthalmologic examination was...
18.
Souied E, Ducroq D, Gerber S, Ghazi I, Rozet J, Perrault I, et al.
Am J Ophthalmol
. 1999 Aug;
128(2):173-8.
PMID: 10458172
Purpose: To report clinical features and molecular genetic study in three unrelated families in which age-related macular degeneration was observed in grandparents of patients with Stargardt disease. Methods: A complete...
19.
Perrault I, Rozet J, Ghazi I, Leowski C, Bonnemaison M, Gerber S, et al.
Am J Hum Genet
. 1999 Mar;
64(4):1225-8.
PMID: 10090910
No abstract available.
20.
Cabot A, Rozet J, Gerber S, Perrault I, Ducroq D, Smahi A, et al.
Am J Hum Genet
. 1999 Mar;
64(4):1141-6.
PMID: 10090899
Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations, with onset typically at birth or within the first few months...