Search Results - Laurent Pasquier

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  1. 1
    The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

    The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches by Daniel Guerrier, Thomas Mouchel, Laurent Pasquier, Isabelle Pellerin

    Published 2006
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  2. 2
    Holoprosencephaly

    Holoprosencephaly by Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Cathérine Henry, Sylvie Odent, Véronique David

    Published 2007
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  3. 3
    A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in <scp><i>GJB6</i></scp> gene

    A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in <scp><i>GJB6</i></scp> gene by Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoît Godey, Cédric Le Maréchal, Paul Guéguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier

    Published 2025
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  4. 4
    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A by Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis

    Published 2008
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  5. 5
    Phenotypic and molecular variability of the holoprosencephalic spectrum

    Phenotypic and molecular variability of the holoprosencephalic spectrum by Leïla Lazaro, Christèle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie‐Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent

    Published 2004
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  6. 6
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases by Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    Published 2008
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  7. 7
    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci by Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard‐Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier

    Published 2011
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  8. 8
    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome by Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux‐Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours

    Published 2020
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  9. 9
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases by Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    Published 2011
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  10. 10
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... by Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    Published 2014
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  11. 11
    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 by 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

    Published 2016
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  12. 12
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases by Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    Published 2009
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  13. 13
    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype by Éric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, S. Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laurent Pasquier, Bertrand Isidor, S. Ferkal, Jean Soulier, Marc Sanson, Anne Dieux‐Coëslier, Ivan Bièche, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Meena Upadhyaya, Dominique Vidaud

    Published 2010
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  14. 14
    Penetrance, variable expressivity and monogenic neurodevelopmental disorders

    Penetrance, variable expressivity and monogenic neurodevelopmental disorders by Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg, François Lecoquierre, Gaël Nicolas, Marie Bournez, Antonio Vitobello, Frédéric Tran Mau‐Them, Gwenaël Le Guyader, Frédéric Bilan, Peter Bauer, Christiane Zweier, Juliette Piard, Laurent Pasquier, Stéphane Bézieau, Bénédicte Gérard, Laurence Faivre, Pascale Saugier‐Veber, Amélie Piton, Bertrand Isidor

    Published 2024
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  15. 15
    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

    Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age by Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

    Published 2013
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  16. 16
    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome

    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome by Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Pïcard, Anne Durandy, Angus Dobbie, Delphine Héron, Bertrand Isidor, Jacques Motté, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, G��raldine Viot, Francis Jaubert, Arnold Münnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel

    Published 2009
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  17. 17
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) by Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    Published 2007
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  18. 18
    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 by 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

    Published 2016
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  19. 19
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients by Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    Published 2017
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  20. 20
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature by Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Published 2013
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