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Refinado por: Nome da Publicação: Human Mutation remover assunto: Humans remover
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1
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine ; Jonard, Laurence ; Loundon, Natalie ; Christin-Maitre, Sophie ; Lacombe, Didier ; Goizet, Cyril ; Rouzier, Cécile ; Van Maldergem, Lionel ; Gherbi, Souad ; Garabedian, Eréa-Nöel ; Bonnefont, Jean- Paul ; Touraine, Philippe ; Mosnier, Isabelle ; Munnich, Arnold ; Denoyelle, Françoise ; Marlin, Sandrine

Human mutation, 2016-12, Vol.37 (12), p.1354-1362 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
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
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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

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

Human mutation, 2004-04, Vol.23 (4), p.306-317 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Perrault, Isabelle ; Delphin, Nathalie ; Hanein, Sylvain ; Gerber, Sylvie ; Dufier, Jean-Louis ; Roche, Olivier ; Defoort-Dhellemmes, Sabine ; Dollfus, Hélène ; Fazzi, Elisa ; Munnich, Arnold ; Kaplan, Josseline ; Rozet, Jean-Michel

Human mutation, 2007-04, Vol.28 (4), p.416-416 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
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Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Geoffroy, Véronique ; Stoetzel, Corinne ; Scheidecker, Sophie ; Schaefer, Elise ; Perrault, Isabelle ; Bär, Séverine ; Kröll, Ariane ; Delbarre, Marion ; Antin, Manuela ; Leuvrey, Anne‐Sophie ; Henry, Charline ; Blanché, Hélène ; Decker, Eva ; Kloth, Katja ; Klaus, Günter ; Mache, Christoph ; Martin‐Coignard, Dominique ; McGinn, Steven ; Boland, Anne ; Deleuze, Jean‐François ; Friant, Sylvie ; Saunier, Sophie ; Rozet, Jean‐Michel ; Bergmann, Carsten ; Dollfus, Hélène ; Muller, Jean

Human mutation, 2018-07, Vol.39 (7), p.983-992 [Periódico revisado por pares]

United States: Hindawi Limited

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5
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
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A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Thomas, Sophie ; Wright, Kevin J. ; Corre, Stéphanie Le ; Micalizzi, Alessia ; Romani, Marta ; Abhyankar, Avinash ; Saada, Julien ; Perrault, Isabelle ; Amiel, Jeanne ; Litzler, Julie ; Filhol, Emilie ; Elkhartoufi, Nadia ; Kwong, Mandy ; Casanova, Jean-Laurent ; Boddaert, Nathalie ; Baehr, Wolfgang ; Lyonnet, Stanislas ; Munnich, Arnold ; Burglen, Lydie ; Chassaing, Nicolas ; Encha-Ravazi, Ferechté ; Vekemans, Michel ; Gleeson, Joseph G. ; Valente, Enza Maria ; Jackson, Peter K. ; Drummond, Iain A. ; Saunier, Sophie ; Attié-Bitach, Tania

Human mutation, 2014-01, Vol.35 (1), p.137-146 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
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Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Perrault, Isabelle ; Hanein, Sylvain ; Gerard, Xavier ; Delphin, Nathalie ; Fares-Taie, Lucas ; Gerber, Sylvie ; Pelletier, Valérie ; Mercé, Emilie ; Dollfus, Hélène ; Puech, Bernard ; Defoort-Dhellemmes, Sabine ; Petersen, Michael D ; Zafeiriou, Dimitrios ; Munnich, Arnold ; Kaplan, Josseline ; Roche, Olivier ; Rozet, Jean-Michel

Human mutation, 2010-03, Vol.31 (3), p.E1241-E1250 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

Gerber, Sylvie ; Hanein, Sylvain ; Perrault, Isabelle ; Delphin, Nathalie ; Aboussair, Nisrine ; Leowski, Corinne ; Dufier, Jean-Louis ; Roche, Olivier ; Munnich, Arnold ; Kaplan, Josseline ; Rozet, Jean-Michel

Human mutation, 2007-12, Vol.28 (12), p.1245-1245 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
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
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A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

Perrault, Isabelle ; Hanein, Sylvain ; Gerber, Sylvie ; Lebail, Beatrice ; Vlajnik, Patrice ; Barbet, Fabienne ; Ducroq, Dominique ; Dufier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline ; Rozet, Jean-Michel

Human mutation, 2005-02, Vol.25 (2), p.222-222 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
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Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Webb, Bryn D. ; Wheeler, Patricia G. ; Hagen, Jacob J. ; Cohen, Ninette ; Linderman, Michael D. ; Diaz, George A. ; Naidich, Thomas P. ; Rodenburg, Richard J. ; Houten, Sander M. ; Schadt, Eric E.

Human mutation, 2015-06, Vol.36 (6), p.587-592 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
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
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Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

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

Human mutation, 2002-10, Vol.20 (4), p.322-323 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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