Resultats de la cerca - Patrick Calvas

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  1. 1
    Axial Length of Myopia: A Review of Current Research

    Axial Length of Myopia: A Review of Current Research per Weihua Meng, Jacqueline Butterworth, François Malecaze, Patrick Calvas

    Publicat 2010
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  2. 2
    Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

    Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia per N. Chassaing, Sylvie Bourthoumieu, Mireille Cossée, Patrick Calvas, M.-C. Vincent

    Publicat 2006
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  3. 3
    Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

    Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia per Marie Claire Vincent, Valérie Biancalana, Danièle Ginisty, Jean‐Louis Mandel, Patrick Calvas

    Publicat 2001
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  4. 4
    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia per Julie Plaisancié, Fabiola Ceroni, Richard Holt, Celia Zazo Seco, Patrick Calvas, Nicolas Chassaing, Nicola Ragge

    Publicat 2019
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  5. 5
    Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

    Novel ABCC6 Mutations in Pseudoxanthoma Elasticum per Nicolas Chassaing, Ludovic Martin, J. Mazereeuw‐Hautier, Laurence Barrié, Sonia Nizard, Jean‐Louis Bonafé, Patrick Calvas, Alain Hovnanian

    Publicat 2004
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  6. 6
    Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

    Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience per Marie‐Claire Vincent, Myriam Daudin, P. De Mas, G. Massat, Roger Mieusset, F Pontonnier, Patrick Calvas, Louis Bujan, GEORGES BOURROUILLOU

    Publicat 2002
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  7. 7
    The HNF1B score is a simple tool to select patients for HNF1B gene analysis

    The HNF1B score is a simple tool to select patients for HNF1B gene analysis per Stanislas Faguer, Nicolas Chassaing, Isabel Bandı́n, Cathie Prouheze, Arnaud Garnier, Audrey Casemayou, Antoine Huart, Joost P. Schanstra, Patrick Calvas, Stéphane Decramer, Dominique Chauveau

    Publicat 2014
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  8. 8
    Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

    Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation per Alexandra Herman-Bert, Giovanni Stévanin, J C Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiuping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice

    Publicat 2000
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  9. 9
    Genetic Factors for Choroidal Neovascularization Associated with High Myopia

    Genetic Factors for Choroidal Neovascularization Associated with High Myopia per Nicolas Leveziel, Yi Yu, Robyn Reynolds, Albert Tai, Weihua Meng, Violaine Caillaux, Patrick Calvas, Bernard Rosner, François Malecaze, Eric H. Souied, Johanna M. Seddon

    Publicat 2012
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  10. 10
    Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

    Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood per Stanislas Faguer, Stéphane Decramer, Nicolas Chassaing, Christine Bellanné‐Chantelot, Patrick Calvas, Sandrine Beaufils, Lucie Bessenay, Jean‐Philippe Lengelé, Karine Dahan, Pierre Ronco, Olivier Devuyst, Dominique Chauveau

    Publicat 2011
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  11. 11
    Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort

    Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort per Ravikanth Metlapally, Chang‐Seok Ki, Yi‐Ju Li, Khanh-Nhat Tran-Viet, Diana Abbott, François Malecaze, Patrick Calvas, David A. Mackey, Thomas Rosenberg, Sandrine Paget, Jeremy A. Guggenheim, Terri L. Young

    Publicat 2010
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  12. 12
    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

    Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia per Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, L. Masini, F. Piro, G Maragliano, Anne‐Lise Delezoide, Tania Attié‐Bitach, Sylvie Manouvrier‐Hanu, Heather Etchevers, Patrick Calvas

    Publicat 2009
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  13. 13
    <i>COL1A1</i>and<i>COL2A1</i>Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the<i>COL2A1</i>Locus

    <i>COL1A1</i>and<i>COL2A1</i>Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the<i>COL2A1</i>Locus per Ravikanth Metlapally, Yi‐Ju Li, Khanh-Nhat Tran-Viet, Diana Abbott, Gregory R. Czaja, François Malecaze, Patrick Calvas, David A. Mackey, Thomas Rosenberg, Sandrine Paget, Tetyana Zayats, Michael J. Owen, Jeremy A. Guggenheim, Terri L. Young

    Publicat 2009
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  14. 14
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia per Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Publicat 2013
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  15. 15
    An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia

    An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia per Yi‐Ju Li, Jeremy A. Guggenheim, Anuradha Bulusu, Ravikanth Metlapally, Diana Abbott, François Malecaze, Patrick Calvas, Thomas Rosenberg, Sandrine Paget, Rosalind C Creer, George Kirov, Michael J. Owen, Bei Zhao, Tristan White, David A. Mackey, Terri L. Young

    Publicat 2009
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  16. 16
    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... per 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

    Publicat 2004
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  17. 17
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients per Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    Publicat 2011
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  18. 18
    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family per Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie‐Pierre Moizard, Martine Raynaud, Nathalie Ronce, Éric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Ben C.J. Hamel, Christian Andrés, Catherine Barthélémy, Claude Moraine, Sylvain Briault

    Publicat 2004
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  19. 19
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia per Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing, Jill Clayton‐Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    Publicat 2013
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  20. 20
    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network per Nicolas Chassaing, Erica E. Davis, Kelly McKnight, Adrienne R. Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent‐Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean‐Louis Dufier, Hélène Dollfus, Josseline Kaplan, Nicholas Katsanis, Heather Etchevers, Stanislas Faguer, Patrick Calvas

    Publicat 2016
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