Rezultati - Isabelle Perrault

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  1. 1
    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy od Isabelle Perrault, Jean‐Michel Rozet, S. Gerber, Rosemary E. Kelsell, Eric H. Souied, Annick Cabot, David M. Hunt, Arnold Münnich, Josseline Kaplan

    Izdano 1998
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  2. 2
    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies od Jean‐Michel Rozet, S. Gerber, Eric H. Souied, Isabelle Perrault, Sophie Châtelin, Imad Ghazi, Corinne Leowski, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan

    Izdano 1998
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  3. 3
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis od Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    Izdano 2004
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  4. 4
    Spectrum of retGC1 mutations in Leber's congenital amaurosis

    Spectrum of retGC1 mutations in Leber's congenital amaurosis od Isabelle Perrault, Jean‐Michel Rozet, S. Gerber, Imad Ghazi, Dominique Ducroq, Eric H. Souied, Corinne Leowski, Michèle Bonnemaison, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    Izdano 2000
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  5. 5
    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 od Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Izdano 2007
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  6. 6
    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 od Isabelle Perrault, Jean‐Michel Rozet, Imad Ghazi, Corinne Leowski, Michèle Bonnemaison, S. Gerber, Dominique Ducroq, Annick Cabot, Eric H. Souied, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    Izdano 1999
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  7. 7
    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation od Xavier Gérard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlène Rio, Arnold Münnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean‐Michel Rozet

    Izdano 2012
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  8. 8
    Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

    Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy od Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne, Isabelle Perrault, Josseline Kaplan, Ruey‐Bing Yang, David L. Garbers, Alan C. Bird, Anthony T. Moore, David M. Hunt

    Izdano 1998
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  9. 9
    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 od S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Izdano 2001
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  10. 10
    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi od Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus

    Izdano 2016
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  11. 11
    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease od Melanie M. Sohocki, Isabelle Perrault, Bart P. Leroy, Annette Payne, Sharola Dharmaraj, Shomi S. Bhattacharya, Josseline Kaplan, Irene H. Maumenee, Robert K. Koenekoop, Françoise Meire, David G. Birch, John R. Heckenlively, Stephen P. Daiger

    Izdano 2000
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  12. 12
    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 molecula... od Sylvain Hanein, Isabelle Perrault, S. Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Löppönen, Francis L. Munier, Louisa Santos, Stavit A. Shalev, Dimitrios Zafeiriou, Jean‐Louis Dufier, Arnold Munnich, Jean‐Michel Rozet, Josseline Kaplan

    Izdano 2004
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  13. 13
    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>

    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i> od Sarah Hull, Nicholas Owen, Farrah Islam, Dhani Tracey‐White, Vincent Plagnol, Graham E. Holder, Michel Michaelides, Keren Carss, F. Lucy Raymond, Jean‐Michel Rozet, Simon Ramsden, Graeme Black, Isabelle Perrault, Ajoy Sarkar, Mariya Moosajee, Andrew R. Webster, Gavin Arno, Anthony T. Moore

    Izdano 2016
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  14. 14
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy od Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    Izdano 2009
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  15. 15
    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness od Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José‐Mario Capo‐Chichi, Nathalie Boddaert, Jean‐Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Münnich, Guy A. Rouleau, Josseline Kaplan, Jean‐Michel Rozet, Jacques L. Michaud

    Izdano 2014
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  16. 16
    The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

    The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations od Sharola Dharmaraj, Bart P. Leroy, Melanie M. Sohocki, Robert K. Koenekoop, Isabelle Perrault, Khalid Anwar, Shagufta Khaliq, R. Summathi Devi, David G. Birch, Elaine De Pool, Natalio Izquierdo, Lionel Van Maldergem, Mohammad Ismail, Annette Payne, Graham E. Holder, Shomi S. Bhattacharya, Alan C. Bird, Josseline Kaplan, Irene H. Maumenee

    Izdano 2004
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  17. 17
    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

    Mutations in TUBB4B Cause a Distinctive Sensorineural Disease od Romain Luscan, Sabrina Méchaussier, Antoine Paul, Guoling Tian, Xavier Gérard, Sabine Defoort-Dellhemmes, Natalie Loundon, Isabelle Audo, Sophie Bonnin, Jean‐François LeGargasson, Julien Dumont, Nicolas Goudin, Meriem Garfa-Traoré, Marc Bras, Aurore Pouliet, Bettina Bessières, Nathalie Boddaert, José‐Alain Sahel, Stanislas Lyonnet, Josseline Kaplan, Nicholas J. Cowan, Jean‐Michel Rozet, Sandrine Marlin, Isabelle Perrault

    Izdano 2017
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  18. 18
    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium od Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean‐Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Münnich, Lydie Bürglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié‐Bitach

    Izdano 2013
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  19. 19
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    Izdano 2023
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  20. 20
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    Izdano 2023
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