نتائج البحث - Nicolas Chassaing

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  1. 1
    Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

    Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations حسب Nicolas Chassaing

    منشور في 2005
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  2. 2
    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

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

    منشور في 2019
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  3. 3
    Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

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

    منشور في 2004
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  4. 4
    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 حسب Stanislas Faguer, Nicolas Chassaing, Isabel Bandı́n, Cathie Prouheze, Arnaud Garnier, Audrey Casemayou, Antoine Huart, Joost P. Schanstra, Patrick Calvas, Stéphane Decramer, Dominique Chauveau

    منشور في 2014
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  5. 5
    Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

    Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood حسب 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

    منشور في 2011
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  6. 6
    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplas... حسب Delphine Simon, Benoît Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Caroline Rooryck, Michèle Marche, Ingrid Burgelin, Isabelle Coupry, Nicolas Chassaing, Brigitte Gilbert‐Dussardier, Didier Lacombe, Christophe F. Grosset, Benoı̂t Arveiler

    منشور في 2010
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  7. 7
    Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

    Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens حسب Olivier Patat, A. Pagin, Aurore Siegfried, Valérie Mitchell, Nicolas Chassaing, Stanislas Faguer, Laetitia Monteil, Véronique Gaston, Louis Bujan, Monique Courtade-Saïdi, F. Marcelli, G. Lalau, Jean-Marc Rigot, Roger Mieusset, Éric Bieth

    منشور في 2016
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  8. 8
    Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells

    Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells حسب Audrey Casemayou, Audren Fournel, Alessia Bagattin, Joost P. Schanstra, Julie Bellière, Stéphane Decramer, Dimitri Marsal, M. Gillet, Nicolas Chassaing, Antoine Huart, Marco Pontoglio, Claude Knauf, Jean‐Loup Bascands, Dominique Chauveau, Stanislas Faguer

    منشور في 2017
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  9. 9
    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 حسب 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

    منشور في 2009
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  10. 10
    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 حسب 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

    منشور في 2013
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  11. 11
    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes حسب Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill, Dian Donnai, Graeme Black, Éric Bieth, Nicolas Chassaing, Didier Lacombe, Koenraad Devriendt, Ahmad S. Teebi, Marı́a Loscertales, Caroline D. Robson, Tianming Liu, David T. MacLaughlin, Kristin Noonan, Meaghan Russell, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

    منشور في 2007
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  12. 12
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia حسب 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

    منشور في 2013
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  13. 13
    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 حسب 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

    منشور في 2016
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  14. 14
    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases حسب Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou, Sourour Mansour, Philippe Guigue, Sahben Masmoudi, Élodie Bal, Nicolas Chassaing, Marie‐Claire Vincent, Géraldine Viot, François Clauss, Marie‐Cécile Manière, Steve Toupenay, Martine Le Merrer, Stanislas Lyonnet, Valérie Cormier‐Daire, Jeanne Amiel, Laurence Faivre, Y. De Prost, Arnold Münnich, Jean‐Paul Bonnefont, Christine Bodemer, Asma Smahi

    منشور في 2010
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  15. 15
    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment

    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment حسب Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud

    منشور في 2016
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  16. 16
    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway حسب Christèle Dubourg, Wilfrid Carré, Houda Hamdi‐Rozé, Charlotte Mouden, J. Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Marie Gonzalès, Annie Levy‐Mozziconacci, Sally Ann Lynch, Sophie Naudion, Laurent Pasquier, Amélie Poidvin, Fabienne Prieur, Pierre Sarda, Annick Toutain, Valérie Dupé, Linda Akloul, Sylvie Odent, Marie de Tayrac, Véronique David

    منشور في 2016
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  17. 17
    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 حسب 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

    منشور في 2013
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  18. 18
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia حسب Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas

    منشور في 2013
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  19. 19
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes حسب Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    منشور في 2018
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  20. 20
    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature حسب Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre

    منشور في 2016
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