I Perrault
Overview
Explore the profile of I Perrault including associated specialties, affiliations and a list of published articles.
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Articles
30
Citations
904
Followers
0
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Recent Articles
1.
Mechaussier S, Perrault I, Dollfus H, Bloch-Zupan A, Loundon N, Jonard L, et al.
Adv Exp Med Biol
. 2021 Jan;
1299:81-87.
PMID: 33417209
Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the...
2.
Papon J, Perrault I, Coste A, Louis B, Gerard X, Hanein S, et al.
J Med Genet
. 2010 Sep;
47(12):829-34.
PMID: 20805370
Background: Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in...
3.
Aboussair N, Berahou A, Perrault I, Elalaoui S, Megzari A, Rozet J, et al.
J Fr Ophtalmol
. 2010 Jan;
33(2):117.e1-5.
PMID: 20056295
Leber congenital amaurosis (LCA) is a the earliest and most severe form of retinal dystrophy responsible for congenital blindness. LCA has genetic heterogeneity and the study of this disease is...
4.
Hanein S, Perrault I, Gerber S, Tanguy G, Hamel C, Dufier J, et al.
J Fr Ophtalmol
. 2005 Mar;
28(1):98-105.
PMID: 15767905
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These...
5.
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.
6.
Perrault I, Hanein S, Gerber S, Barbet F, Dufier J, Munnich A, et al.
J Med Genet
. 2003 Jul;
40(7):e90.
PMID: 12843339
No abstract available.
7.
Rozet J, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S, et al.
J Med Genet
. 2002 Apr;
39(4):284-5.
PMID: 11950860
No abstract available.
8.
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...
9.
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...
10.
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....