Works by Cormier-Daire, Valerie

Results: 173
    1
    2

    Root resorptions induced by genetic disorders: A systematic review.

    Published in:
    Oral Diseases, 2024, v. 30, n. 6, p. 3799, doi. 10.1111/odi.14942
    By:
    • Dupre, Nicolas;
    • Riou, Margot C.;
    • Isaac, Juliane;
    • Ferre, François;
    • Cormier‐Daire, Valérie;
    • Kerner, Stéphane;
    • de La Dure‐Molla, Muriel;
    • Nowwarote, Nunthawan;
    • Acevedo, Ana Carolina;
    • Fournier, Benjamin P. J.
    Publication type:
    Article
    3
    4

    Nosology of genetic skeletal disorders: 2023 revision.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
    By:
    • Unger, Sheila;
    • Ferreira, Carlos R.;
    • Mortier, Geert R.;
    • Ali, Houda;
    • Bertola, Débora R.;
    • Calder, Alistair;
    • Cohn, Daniel H.;
    • Cormier‐Daire, Valerie;
    • Girisha, Katta M.;
    • Hall, Christine;
    • Krakow, Deborah;
    • Makitie, Outi;
    • Mundlos, Stefan;
    • Nishimura, Gen;
    • Robertson, Stephen P.;
    • Savarirayan, Ravi;
    • Sillence, David;
    • Simon, Marleen;
    • Sutton, V. Reid;
    • Warman, Matthew L.
    Publication type:
    Article
    5

    An automatic facial landmarking for children with rare diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
    By:
    • Hennocq, Quentin;
    • Bongibault, Thomas;
    • Bizière, Matthieu;
    • Delassus, Ombline;
    • Douillet, Maxime;
    • Cormier‐Daire, Valérie;
    • Amiel, Jeanne;
    • Lyonnet, Stanislas;
    • Marlin, Sandrine;
    • Rio, Marlène;
    • Picard, Arnaud;
    • Khonsari, Roman Hossein;
    • Garcelon, Nicolas
    Publication type:
    Article
    6

    Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
    By:
    • Ranza, Emmanuelle;
    • Le Gouez, Morgane;
    • Guimier, Anne;
    • Dunlop, Naziha Khen;
    • Beaudoin, Sylvie;
    • Malan, Valérie;
    • Michot, Caroline;
    • Baujat, Geneviève;
    • Rio, Marlène;
    • Cormier‐Daire, Valérie;
    • Abadie, Véronique;
    • Sarnacki, Sabine;
    • Delacourt, Christophe;
    • Lyonnet, Stanislas;
    • Attié‐Bitach, Tania;
    • Pingault, Véronique;
    • Rousseau, Véronique;
    • Amiel, Jeanne
    Publication type:
    Article
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    European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

    Published in:
    Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
    By:
    • Fredwall, Svein;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Guillén-Navarro, Encarna;
    • Innig, Florian;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.;
    • Irving, Melita
    Publication type:
    Article
    10

    Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

    Published in:
    Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
    By:
    • Semler, Oliver;
    • Cormier-Daire, Valérie;
    • Lausch, Ekkehart;
    • Bober, Michael B.;
    • Carroll, Ricki;
    • Sousa, Sérgio B.;
    • Deyle, David;
    • Faden, Maha;
    • Hartmann, Gabriele;
    • Huser, Aaron J.;
    • Legare, Janet M.;
    • Mohnike, Klaus;
    • Rohrer, Tilman R.;
    • Rutsch, Frank;
    • Smith, Pamela;
    • Travessa, Andre M.;
    • Verardo, Angela;
    • White, Klane K.;
    • Wilcox, William R.;
    • Hoover-Fong, Julie
    Publication type:
    Article
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    Spectrum of epilepsy in terminal 1p36 deletion syndrome.

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
    By:
    • Bahi-Buisson, Nadia;
    • Guttierrez-Delicado, Eva;
    • Soufflet, Christine;
    • Rio, Marlène;
    • Cormier Daire, Valérie;
    • Lacombe, Didier;
    • Héron, Delphine;
    • Verloes, Alain;
    • Zuberi, Sameer;
    • Burglen, Lydie;
    • Afenjar, Alexandra;
    • Moutard, Marie Laure;
    • Edery, Patrick;
    • Novelli, Antonio;
    • Bernardini, Laura;
    • Dulac, Olivier;
    • Nabbout, Rima;
    • Plouin, Perrine;
    • Battaglia, Agatino
    Publication type:
    Article
    13

    Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

    Published in:
    BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02538-8
    By:
    • Faviez, Carole;
    • Chen, Xiaoyi;
    • Garcelon, Nicolas;
    • Zaidan, Mohamad;
    • Billot, Katy;
    • Petzold, Friederike;
    • Faour, Hassan;
    • Douillet, Maxime;
    • Rozet, Jean-Michel;
    • Cormier-Daire, Valérie;
    • Attié-Bitach, Tania;
    • Lyonnet, Stanislas;
    • Saunier, Sophie;
    • Burgun, Anita
    Publication type:
    Article
    14

    Novel Mutations in Geleophysic Dysplasia Type 1.

    Published in:
    Pediatric & Developmental Pathology, 2014, v. 17, n. 3, p. 209, doi. 10.2350/13-08-1370-CR.1
    By:
    • PORAYETTE, PRASHOB;
    • FRUITMAN, DEBORAH;
    • LAUZON, JULIE L.;
    • GOFF, CARINE LE;
    • CORMIER-DAIRE, VALÉRIE;
    • SANDERS, STEPHEN P.;
    • PINTO-ROJAS, ALFREDO;
    • PEREZ-ATAYDE, ANTONIO R.
    Publication type:
    Article
    15

    Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 495, doi. 10.1111/cge.14682
    By:
    • Hennocq, Quentin;
    • Lienhard, Olivier;
    • Rao, Dipesh;
    • Amiel, Jeanne;
    • Benichou, Ludovic;
    • Bongibault, Thomas;
    • Hidalgo, Ana‐Julia Bravo;
    • Cormier‐Daire, Valérie;
    • Lyonnet, Stanislas;
    • Picard, Arnaud;
    • Rio, Marlène;
    • Zaiter, Ahmed;
    • Garcelon, Nicolas;
    • Tkemaladze, Tinatin;
    • Khonsari, Roman H.
    Publication type:
    Article
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    Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 1, p. 114, doi. 10.1111/cge.14328
    By:
    • Aubert‐Mucca, Marion;
    • Janel, Caroline;
    • Porquet‐Bordes, Valérie;
    • Patat, Olivier;
    • Touraine, Renaud;
    • Edouard, Thomas;
    • Michot, Caroline;
    • Tessier, Aude;
    • Cormier‐Daire, Valérie;
    • Attie‐Bitach, Tania;
    • Baujat, Geneviève
    Publication type:
    Article
    18

    CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
    By:
    • Palmer, Elizabeth E.;
    • Whitton, Chloe;
    • Hashem, Mais O.;
    • Clark, Robin D.;
    • Ramanathan, Subhadra;
    • Starr, Lois J.;
    • Velasco, Danita;
    • De Dios, John Karl;
    • Singh, Emily;
    • Cormier‐Daire, Valerie;
    • Chopra, Maya;
    • Rodan, Lance H.;
    • Nellaker, Christoffer;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Panzer, Karin;
    • Sidhu, Alpa;
    • Wentzensen, Ingrid M.;
    • Lacombe, Didier;
    • Michaud, Vincent
    Publication type:
    Article
    19
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    Further delineation of the KAT6B molecular and phenotypic spectrum.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
    By:
    • Gannon, Tamsin;
    • Perveen, Rahat;
    • Schlecht, Hélene;
    • Ramsden, Simon;
    • Anderson, Beverley;
    • Kerr, Bronwyn;
    • Day, Ruth;
    • Banka, Siddharth;
    • Suri, Mohnish;
    • Berland, Siren;
    • Gabbett, Michael;
    • Ma, Alan;
    • Lyonnet, Stan;
    • Cormier-Daire, Valerie;
    • Yilmaz, Rüstem;
    • Borck, Guntram;
    • Wieczorek, Dagmar;
    • Anderlid, Britt-Marie;
    • Smithson, Sarah;
    • Vogt, Julie
    Publication type:
    Article
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    New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
    By:
    • Navarro, Claire Laure;
    • Esteves-Vieira, Vera;
    • Courrier, Sébastien;
    • Boyer, Amandine;
    • Duong Nguyen, Thuy;
    • Huong, Le Thi Thanh;
    • Meinke, Peter;
    • Schröder, Winnie;
    • Cormier-Daire, Valérie;
    • Sznajer, Yves;
    • Amor, David J;
    • Lagerstedt, Kristina;
    • Biervliet, Martine;
    • van den Akker, Peter C;
    • Cau, Pierre;
    • Roll, Patrice;
    • Lévy, Nicolas;
    • Badens, Catherine;
    • Wehnert, Manfred;
    • De Sandre-Giovannoli, Annachiara
    Publication type:
    Article
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    Clinical utility gene card for: 3M syndrome.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32
    By:
    • Holder-Espinasse, Muriel;
    • Irving, Melita;
    • Cormier-Daire, Valérie
    Publication type:
    Article
    26

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
    By:
    • Hoornaert, Kristien P.;
    • Vereecke, Inge;
    • Dewinter, Chantal;
    • Rosenberg, Thomas;
    • Beemer, Frits A.;
    • Leroy, Jules G.;
    • Bendix, Laila;
    • Björck, Erik;
    • Bonduelle, Maryse;
    • Boute, Odile;
    • Cormier-Daire, Valerie;
    • De Die-Smulders, Christine;
    • Dieux-Coeslier, Anne;
    • Dollfus, Hélène;
    • Elting, Mariet;
    • Green, Andrew;
    • Guerci, Veronica I.;
    • Hennekam, Raoul C. M.;
    • Hilhorts-Hofstee, Yvonne;
    • Holder, Muriel
    Publication type:
    Article
    27

    Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

    Published in:
    2010
    By:
    • Hoornaert, Kristien P;
    • Vereecke, Inge;
    • Dewinter, Chantal;
    • Rosenberg, Thomas;
    • Beemer, Frits A;
    • Leroy, Jules G;
    • Bendix, Laila;
    • Björck, Erik;
    • Bonduelle, Maryse;
    • Boute, Odile;
    • Cormier-Daire, Valerie;
    • De Die-Smulders, Christine;
    • Dieux-Coeslier, Anne;
    • Dollfus, Hélène;
    • Elting, Mariet;
    • Green, Andrew;
    • Guerci, Veronica I;
    • Hennekam, Raoul CM;
    • Hilhorts-Hofstee, Yvonne;
    • Holder, Muriel
    Publication type:
    Correction Notice
    28

    Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
    By:
    • Malan, Valérie;
    • Chevallier, Suzanne;
    • Soler, Gwendoline;
    • Coubes, Christine;
    • Lacombe, Didier;
    • Pasquier, Laurent;
    • Soulier, Jean;
    • Morichon-Delvallez, Nicole;
    • Turleau, Catherine;
    • Munnich, Arnold;
    • Romana, Serge;
    • Vekemans, Michel;
    • Cormier-Daire, Valérie;
    • Colleaux, Laurence
    Publication type:
    Article
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    30

    The mutation spectrum in RECQL4 diseases.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
    By:
    • Siitonen, H. Annika;
    • Sotkasiira, Jenni;
    • Biervliet, Martine;
    • Benmansour, Abdelmadjid;
    • Capri, Yline;
    • Cormier-Daire, Valerie;
    • Crandall, Barbara;
    • Hannula-Jouppi, Katariina;
    • Hennekam, Raoul;
    • Herzog, Denise;
    • Keymolen, Kathelijn;
    • Lipsanen-Nyman, Marita;
    • Miny, Peter;
    • Plon, Sharon E.;
    • Riedl, Stefan;
    • Sarkar, Ajoy;
    • Vargas, Fernando R.;
    • Verloes, Alain;
    • Wang, Lisa L.;
    • Kääriäinen, Helena
    Publication type:
    Article
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    Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744
    By:
    • Zankl, Andreas;
    • Jackson, Gail C.;
    • Crettol, Laureane Mittaz;
    • Taylor, Jacky;
    • Elles, Rob;
    • Mortier, Geert R.;
    • Spranger, Jurgen;
    • Zabel, Bernhard;
    • Unger, Sheila;
    • Merrer, Martine Le;
    • Cormier-Daire, Valerie;
    • Hall, Christine M.;
    • Wright, Michael J.;
    • Bonafe, Luisa;
    • Superti-Furga, Andrea;
    • Briggs, Michael D.
    Publication type:
    Article
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    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
    By:
    • Geneviève, David;
    • Sanlaville, Damien;
    • Faivre, Laurence;
    • Kottler, Marie-Laure;
    • Jambou, Marguerite;
    • Gosset, Philippe;
    • Boustani-Samara, Dinane;
    • Pinto, Graziella;
    • Ozilou, Catherine;
    • Abeguilé, Geneviève;
    • Munnich, Arnold;
    • Romana, Serge;
    • Raoul, Odile;
    • Cormier-Daire, Valérie;
    • Vekemans, Michel
    Publication type:
    Article
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    Functional disomy of the Xq28 chromosome region.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384
    By:
    • Sanlaville, Damien;
    • Prieur, Marguerite;
    • de Blois, Marie-Christine;
    • Genevieve, David;
    • Lapierre, Jean-Michel;
    • Ozilou, Catherine;
    • Picq, Monique;
    • Gosset, Philippe;
    • Morichon-Delvallez, Nicole;
    • Munnich, Arnold;
    • Cormier-Daire, Valerie;
    • Baujat, Genevieve;
    • Romana, Serge;
    • Vekemans, Michel;
    • Turleau, Catherine
    Publication type:
    Article
    39

    Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
    By:
    • Sanlaville, Damien;
    • Genevieve, David;
    • Bernardin, Céline;
    • Amiel, Jeanne;
    • Baumann, Clarisse;
    • de Blois, Marie-Christine;
    • Cormier-Daire, Valérie;
    • Gerard, Bénédicte;
    • Gerard, Marion;
    • Le Merrer, Martine;
    • Parent, Philippe;
    • Prieur, Fabienne;
    • Prieur, Marguerite;
    • Raoul, Odile;
    • Toutain, Annick;
    • Verloes, Alain;
    • Viot, Géraldine;
    • Romana, Serge;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    Article
    40

    Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
    By:
    • Faivre, Laurence;
    • Gosset, Philippe;
    • Cormier-Daire, Valérie;
    • Odent, Sylvie;
    • Amiel, Jeanne;
    • Giurgea, Irina;
    • Nassogne, Marie-Cécile;
    • Pasquier, Laurent;
    • Munnich, Arnold;
    • Romana, Serge;
    • Prieur, Marguerite;
    • Vekemans, Michel;
    • de Blois, Marie-Christine;
    • Turleau, Catherine
    Publication type:
    Article
    41

    A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
    By:
    • Colleaux, Laurence;
    • Rio, Marlène;
    • Heuertz, Solange;
    • Moindrault, Séverine;
    • Turleau, Catherine;
    • Ozilou, Catherine;
    • Gosset, Philippe;
    • Raoult, Odile;
    • Lyonnet, Stanislas;
    • Cormier-Daire, Valérie;
    • Amiel, Jeanne;
    • Le Merrer, Martine;
    • Picq, Monique;
    • de Blois, Marie-Christine;
    • Prieur, Marguerite;
    • Romana, Serge;
    • Cornelis, François;
    • Vekemans, Michel;
    • Munnich, Arnold
    Publication type:
    Article
    42
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    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
    45

    Real-world evidence in achondroplasia: considerations for a standardized data set.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
    By:
    • Alanay, Yasemin;
    • Mohnike, Klaus;
    • Nilsson, Ola;
    • Alves, Inês;
    • AlSayed, Moeenaldeen;
    • Appelman-Dijkstra, Natasha M.;
    • Baujat, Genevieve;
    • Ben-Omran, Tawfeg;
    • Breyer, Sandra;
    • Cormier-Daire, Valerie;
    • Gregersen, Pernille Axél;
    • Guillén-Navarro, Encarna;
    • Högler, Wolfgang;
    • Maghnie, Mohamad;
    • Mukherjee, Swati;
    • Cohen, Shelda;
    • Pimenta, Jeanne;
    • Selicorni, Angelo;
    • Semler, J. Oliver;
    • Sigaudy, Sabine
    Publication type:
    Article
    46

    Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02664-y
    By:
    • Morice, Anne;
    • Taverne, Maxime;
    • Eché, Sophie;
    • Griffon, Lucie;
    • Fauroux, Brigitte;
    • Leboulanger, Nicolas;
    • Couloigner, Vincent;
    • Baujat, Geneviève;
    • Cormier-Daire, Valérie;
    • Picard, Arnaud;
    • Legeai-Mallet, Laurence;
    • Kadlub, Natacha;
    • Khonsari, Roman Hossein
    Publication type:
    Article
    47
    48

    Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
    By:
    • Van Houdt, Jeroen K J;
    • Nowakowska, Beata Anna;
    • Sousa, Sérgio B;
    • van Schaik, Barbera D C;
    • Seuntjens, Eve;
    • Avonce, Nelson;
    • Sifrim, Alejandro;
    • Abdul-Rahman, Omar A;
    • van den Boogaard, Marie-José H;
    • Bottani, Armand;
    • Castori, Marco;
    • Cormier-Daire, Valérie;
    • Deardorff, Matthew A;
    • Filges, Isabel;
    • Fryer, Alan;
    • Fryns, Jean-Pierre;
    • Gana, Simone;
    • Garavelli, Livia;
    • Gillessen-Kaesbach, Gabriele;
    • Hall, Bryan D
    Publication type:
    Article
    49

    Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
    By:
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Abhyankar, Avinash;
    • Le Goff, Wilfried;
    • Serre, Valérie;
    • Afenjar, Alexandra;
    • Destrée, Anne;
    • di Rocco, Maja;
    • Héron, Delphine;
    • Jacquemont, Sébastien;
    • Marlin, Sandrine;
    • Simon, Marleen;
    • Tolmie, John;
    • Verloes, Alain;
    • Casanova, Jean-Laurent;
    • Munnich, Arnold;
    • Cormier-Daire, Valérie
    Publication type:
    Article
    50

    Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
    By:
    • Isidor, ,13Bertrand;
    • Lindenbaum, Pierre;
    • Pichon, Olivier;
    • Bézieau, Stéphane;
    • Dina, Christian;
    • Jacquemont, Sébastien;
    • Martin-Coignard, Dominique;
    • Thauvin-Robinet, Christel;
    • Le Merrer, Martine;
    • Mandel, Jean-Louis;
    • David, Albert;
    • Faivre, Laurence;
    • Cormier-Daire, Valérie;
    • Redon, Richard;
    • Le Caignec, Cédric
    Publication type:
    Article