Search Results - "Rozet, J. M."

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects by Nedelec, B., Rozet, J.-M., Fares Taie, L.

“…Ocular developmental anomalies are among the most common causes of severe visual impairment in newborns (combined incidence 1–2:10,000). They comprise a wide…”
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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations by Papon, J F, Perrault, I, Coste, A, Louis, B, Gérard, X, Hanein, S, Fares-Taie, L, Gerber, S, Defoort-Dhellemmes, S, Vojtek, A M, Kaplan, J, Rozet, J M, Escudier, E

“…Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the…”
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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia by Rousseau, Francis, Bonaventure, Jacky, Legeai-Mallet, Laurence, Pelet, Anna, Rozet, Jean-Michel, Maroteaux, Pierre, Merrer, Martine Le, Munnich, Arnold

“…Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin characterized by short-limbed…”
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis by Dollfus, Hélène, Calvas, Patrick, Munnich, Arnold, Souied, Eric, Ghazi, Ihmad, Rozet, Jean Michel, Perrault, Isabella, Camuzat, Agnès, Châtelin, Sophie, Paslier, Denis Le, Dufier, Jean-Louis, Gerber, Sylvie, Pittler, Steven, Bonnemaison, Michel, Frézal, Jean, Leowski, Corinne, Kaplan, Josseline

“…Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal…”
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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus by Munnich, Arnold, Gil, Roger, Boespflug-Tanguy, Odile, Rozet, Jean-Michel, Bonneau, Dominique, Saugier-Veber, Pascale, Le Merrer, Martine

“…Three forms of X-linked spastic paraplegia (SPG) have been defined. One locus (SPG 1) maps to Xq28 while two clinically distinct forms map to Xq22 (SPG2). A…”
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A third locus for dominant optic atrophy on chromosome 22q by Barbet, F, Hakiki, S, Orssaud, C, Gerber, S, Perrault, I, Hanein, S, Ducroq, D, Dufier, J-L, Munnich, A, Kaplan, J, Rozet, J-M

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Implication of non-coding PAX6 mutations in aniridia by Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.

“…There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated…”
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Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene by Rozet, J-M, Perrault, I, Gigarel, N, Souied, E, Ghazi, I, Gerber, S, Dufier, J-L, Munnich, A, Kaplan, J

“…[...]we report here on the identification of null RPGR alleles in patients affected with DXLRP. In these females whose ERG is non-recordable, no preferential X…”
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Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis by Perrault, Isabelle, Rozet, Jean-Michel, Ghazi, Imad, Leowski, Corinne, Bonnemaison, Michèle, Gerber, Sylvie, Ducroq, Dominique, Cabot, Annick, Souied, Eric, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

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Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease by Gerber, S., Rozet, J.M., van de Pol, T.J.R., Hoyng, C.B., Munnich, A., Blankenagel, A., Kaplan, J., Cremers, F.P.M.

“…Stargardt disease, an autosomal recessive macular dystrophy of childhood, leading to severe visual impairment, is caused by mutations in the retina-specific…”
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A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3 by Cabot, Annick, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Ducroq, Dominique, Smahi, Asmae, Souied, Eric, Munnich, Arnold, Kaplan, Josseline

“…Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500 live births) characterized by bilateral uncontrollable ocular oscillations,…”
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Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele by Perrault, I, Hanein, S, Gerber, S, Barbet, F, Dufier, J-L, Munnich, A, Rozet, J-M, Kaplan, J

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A gene for Usher syndrome type I (USH1A) maps to chromosome 14q by Kaplan, J, Gerber, S, Bonneau, D, Rozet, J M, Delrieu, O, Briard, M L, Dollfus, H, Ghazi, I, Dufier, J L, Frézal, J

“…Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of…”
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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 by Rozet, Jean-Michet, Gerber, Sylvie, Ghazi, Imad, Perrault, Isabelle, Ducroq, Dominique, Souied, Eric, Cabot, Annick, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

“…Stargardt disease (STGD) is an autosomal recessive macular dystrophy of childhood characterised by bilateral loss of central vision over a period of several…”
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A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy by Perrault, Isabelle, Rozet, Jean-Michel, Gerber, Sylvie, Kelsell, Rosemary E., Souied, Eric, Cabot, Annick, Hunt, David M., Munnich, Arnold, Kaplan, Josseline

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Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 by CAMUZAT, A, ROZET, J.-M, DOLLFUS, H, GERBER, S, PERRAULT, I, WEISSENBACH, J, MUNNICH, A, KAPLAN, J

“…Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the earliest and most severe inherited retinal…”
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ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration by Souied, Eric H, Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Munnich, Arnold, Coscas, Gabriel, Soubrane, Gisele, Kaplan, Josseline

“…Identification of genetic factors in the pathogenesis of age-related macular degeneration (AMD) is of crucial importance in this common cause of blindness…”
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Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA) by Rozet, Jean-Michel, Perrault, Isabelle, Gerber, Sylvie, Hanein, Sylvain, Barbet, Fabienne, Ducroq, Dominique, Souied, Eric, Munnich, Arnold, Kaplan, Josseline

“…Leber congenital amaurosis (LCA) is the earliest and the most severe form of all inherited retinal dystrophies. In 1996, the current investigators ascribed the…”
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A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1 by Dollfus, Hélène, Briard, Marie-Louise, Munnich, Arnold, Gerber, Sylvie, Frézal, Jean, Rozet, Jean-Michel, Janin, Nicolas, Postel-Vinay, Anne, Kaplan, Josseline, Larget-Piet, Dominique, Dufier, Jean-Louis, Odent, Sylvie

“…Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal…”
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Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study by Souied, Eric H, Ducroq, Dominique, Gerber, Sylvie, Ghazi, Imad, Rozet, Jean-Michel, Perrault, Isabelle, Munnich, Arnold, Dufier, Jean Louis, Coscas, Gabriel, Soubrane, Gisèle, Kaplan, Josseline

“…PURPOSE: To report clinical features and molecular genetic study in three unrelated families in which age-related macular degeneration was observed in…”
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