Search Results - "DUCROQ, Dominique" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

by Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Tanguy, Gaëlle, Barbet, Fabienne, Ducroq, Dominique, Calvas, Patrick, Dollfus, Hélène, Hamel, Christian, Lopponen, Tuija, Munier, Francis, Santos, Louisa, Shalev, Stavit, Zafeiriou, Dimitrios, Dufier, Jean‐Louis, Munnich, Arnold, Rozet, Jean‐Michel, Kaplan, Josseline
Published in Human mutation (01.04.2004)

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Journal Article

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

by Gerber, S, Perrault, I, Hanein, S, Barbet, F, Ducroq, D, Ghazi, I, Martin-Coignard, D, Leowski, C, Homfray, T, Dufier, J L, Munnich, A, Kaplan, J, Rozet, J M
Published in European journal of human genetics : EJHG (01.08.2001)

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Journal Article

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

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
Published in American journal of human genetics (01.04.1999)

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Journal Article

Spectrum of retGC1 mutations in Leber's congenital amaurosis

Spectrum of retGC1 mutations in Leber's congenital amaurosis

by Perrault, I, Rozet, J M, Gerber, S, Ghazi, I, Ducroq, D, Souied, E, Leowski, C, Bonnemaison, M, Dufier, J L, Munnich, A, Kaplan, J
Published in European journal of human genetics : EJHG (01.08.2000)

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Journal Article

A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

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
Published in American journal of human genetics (01.04.1999)

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Journal Article

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

by BARBET, Fabienne, GERBER, Sylvie, KAPLAN, Josseline, HAKIKI, Sélim, PERRAULT, Isabelle, HANEIN, Sylvain, DUCROQ, Dominique, TANGUY, Gaëlle, DUFIER, Jean-Louis, MUNNICH, Arnold, ROZET, Jean-Michel
Published in European journal of human genetics : EJHG (01.12.2003)

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Journal Article

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition

by GERBER, Sylvie, ROZET, Jean-Michel, JEANPIERRE, Marc, ROMANA, Serge, FREZAL, Jean, FERRAZ, Fernando, YU-UMESONO, Ruth, MUNNICH, Arnold, KAPLAN, Josseline, TAKEZAWAN, Shin-Ichiro, DOS SANTOS, Luisa Coutinho, LOPES, Lucilia, GRIBOUVAL, Olivier, PENET, Clotilde, PERRAULT, Isabelle, DUCROQ, Dominique, SOUIED, Eric
Published in Human genetics (01.09.2000)

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Journal Article

Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

by Perrault, Isabelle, Hanein, Sylvain, Gerber, Sylvie, Barbet, Fabienne, Ducroq, Dominique, Dollfus, Helene, Hamel, Christian, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Published in American journal of human genetics (01.10.2004)

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Journal Article

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

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

by DUCROQ, Dominique, SHALEV, Stavit, HABIB, Aviv, MUNNICH, Arnold, KAPLAN, Josseline, ROZET, Jean-Michel
Published in European journal of human genetics : EJHG (01.12.2006)

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Journal Article

Leber Congenital Amaurosis

Leber Congenital Amaurosis

by Perrault, Isabelle, Rozet, Jean-Michel, Gerber, Sylvie, Ghazi, Imad, Leowski, Corinne, Ducroq, Dominique, Souied, Eric, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline
Published in Molecular Genetics and Metabolism (01.10.1999)

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Book Review Journal Article

The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

by Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Barbet, Fabienne, Hanein, Sylvain, Hakiki, Selim, Dufier, Jean-Louis, Munnich, Arnold, Hamel, Christian, Kaplan, Josseline
Published in American journal of human genetics (01.12.2002)

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Journal Article

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

by Perrault, Isabelle, Hanein, Sylvain, Gerber, Sylvie, Lebail, Beatrice, Vlajnik, Patrice, Barbet, Fabienne, Ducroq, Dominique, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Published in Human mutation (01.02.2005)

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Journal Article

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

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
Published in Journal of medical genetics (01.06.1999)

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Journal Article

ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration

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
Published in Investigative ophthalmology & visual science (01.01.2000)

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Journal Article

Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)

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
Published in Investigative ophthalmology & visual science (01.05.2001)

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Journal Article

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

by Hanein, Sylvain, Perrault, Isabelle, Olsen, Päivi, Lopponen, Tuija, Hietala, Marja, Gerber, Sylvie, Jeanpierre, Marc, Barbet, Fabienne, Ducroq, Dominique, Hakiki, Sélim, Munnich, Arnold, Rozet, Jean-Michel, Kaplan, Josseline
Published in Human mutation (01.10.2002)

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Journal Article

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study

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
Published in American journal of ophthalmology (01.08.1999)

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Journal Article

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22

by Barbet, Fabienne, Gerber, Sylvie, Hakiki, Sélim, Perrault, Isabelle, Hanein, Sylvain, Ducroq, Dominique, Tanguy, Gaëlle, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Published in Advances in experimental medicine and biology (2006)

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Journal Article

A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus

A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus

by Souied, Eric H, Ducroq, Dominique, Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Sterkers, Margaret, Benhamou, Nathanael, Munnich, Arnold, Coscas, Gabriel, Soubrane, Gisele, Kaplan, Josseline
Published in Investigative ophthalmology & visual science (01.10.1999)

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Journal Article

The ABCR Gene: A Major Disease Gene in Macular and Peripheral Retinal Degenerations with Onset from Early Childhood to the Elderly

The ABCR Gene: A Major Disease Gene in Macular and Peripheral Retinal Degenerations with Onset from Early Childhood to the Elderly

by Rozet, Jean-Michel, Gerber, Sylvie, Souied, Eric, Ducroq, Dominique, Perrault, Isabelle, Ghazi, Imad, Soubrane, Gisèle, Coscas, Gabriel, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline
Published in Molecular Genetics and Metabolism (01.10.1999)

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Book Review Journal Article