Resultats de la cerca - Nicolas Chassaing

Refinar resultats
  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 per Nicolas Chassaing

    Publicat 2005
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  2. 2
    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
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  3. 3
    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
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 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
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  5. 5
    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
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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... per 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

    Publicat 2010
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2016
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  8. 8
    Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells

    Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells per 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

    Publicat 2017
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 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
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 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
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2007
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  12. 12
    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
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 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
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2010
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2013
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2013
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  19. 19
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes per 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

    Publicat 2018
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2016
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: