Review and update of mutations causing Waardenburg syndrome
Pingault, Véronique, Ente, Dorothée, Dastot-Le Moal, Florence, Goossens, Michel, Marlin, Sandrine, Bondurand, Nadège
Published in Human mutation (01.04.2010)
Published in Human mutation (01.04.2010)
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Journal Article
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
El Khouri, Elma, Thomas, Lucie, Jeanson, Ludovic, Bequignon, Emilie, Vallette, Benoit, Duquesnoy, Philippe, Montantin, Guy, Copin, Bruno, Dastot-Le Moal, Florence, Blanchon, Sylvain, Papon, Jean François, Lorès, Patrick, Yuan, Li, Collot, Nathalie, Tissier, Sylvie, Faucon, Catherine, Gacon, Gérard, Patrat, Catherine, Wolf, Jean Philippe, Dulioust, Emmanuel, Crestani, Bruno, Escudier, Estelle, Coste, André, Legendre, Marie, Touré, Aminata, Amselem, Serge
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation
El Khouri, Elma, Diab, Farah, Louvrier, Camille, Assrawi, Eman, Daskalopoulou, Aphrodite, Nguyen, Alexandre, Piterboth, William, Deshayes, Samuel, Desdoits, Alexandra, Copin, Bruno, Dastot Le Moal, Florence, Karabina, Sonia Athina, Amselem, Serge, Aouba, Achille, Giurgea, Irina
Published in eLife (21.06.2023)
Published in eLife (21.06.2023)
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Journal Article
ZFHX1B mutations in patients with Mowat-Wilson syndrome
Dastot-Le Moal, Florence, Wilson, Meredith, Mowat, David, Collot, Nathalie, Niel, Florence, Goossens, Michel
Published in Human mutation (01.04.2007)
Published in Human mutation (01.04.2007)
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Journal Article
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
Bondurand, Nadege, Dastot-Le Moal, Florence, Stanchina, Laure, Collot, Nathalie, Baral, Viviane, Marlin, Sandrine, Attie-Bitach, Tania, Giurgea, Irina, Skopinski, Laurent, Reardon, William, Toutain, Annick, Sarda, Pierre, Echaieb, Anis, Lackmy-Port-Lis, Marilyn, Touraine, Renaud, Amiel, Jeanne, Goossens, Michel, Pingault, Veronique
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Journal Article
Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
KOTT, Esther, DUQUESNOY, Philippe, RIVES, Nathalie, MITCHELL, Valérie, DE BLIC, Jacques, COSTE, André, CLEMENT, Annick, ESCALIER, Denise, TOURE, Aminata, ESCUDIER, Estelle, AMSELEM, Serge, COPIN, Bruno, LEGENDRE, Marie, DASTOT-LE MOAL, Florence, MONTANTIN, Guy, JEANSON, Ludovic, TAMALET, Aline, PAPON, Jean-François, SIFFROI, Jean-Pierre
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Journal Article
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Kott, Esther, Legendre, Marie, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Montantin, Guy, Duquesnoy, Philippe, Piterboth, William, Amram, Daniel, Bassinet, Laurence, Beucher, Julie, Beydon, Nicole, Deneuville, Eric, Houdouin, Véronique, Journel, Hubert, Just, Jocelyne, Nathan, Nadia, Tamalet, Aline, Collot, Nathalie, Jeanson, Ludovic, Le Gouez, Morgane, Vallette, Benoit, Vojtek, Anne-Marie, Epaud, Ralph, Coste, André, Clement, Annick, Housset, Bruno, Louis, Bruno, Escudier, Estelle, Amselem, Serge
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Journal Article
Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Thomas, Lucie, Cuisset, Laurence, Papon, Jean-Francois, Tamalet, Aline, Pin, Isabelle, Abou Taam, Rola, Faucon, Catherine, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Dastot-Le Moal, Florence, Copin, Bruno, Carion, Nathalie, Louis, Bruno, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre, Mitri, Rana, Coste, André, Escudier, Estelle, Thouvenin, Guillaume, Amselem, Serge, Legendre, Marie
Published in Journal of medical genetics (01.06.2024)
Published in Journal of medical genetics (01.06.2024)
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Journal Article
De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder
Louvrier, Camille, El Khouri, Elma, Grall Lerosey, Martine, Quartier, Pierre, Guerrot, Anne‐Marie, Bader Meunier, Brigitte, Chican, Julie, Mohammad, Malaïka, Assrawi, Eman, Daskalopoulou, Aphrodite, Arenas Garcia, Angela, Copin, Bruno, Piterboth, William, Dastot Le Moal, Florence, Karabina, Sonia A., Amselem, Serge, Giurgea, Irina
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2023)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2023)
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Journal Article
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders
Jéru, Isabelle, Cochet, Emmanuelle, Duquesnoy, Philippe, Hentgen, Véronique, Copin, Bruno, Mitjavila‐Garcia, Maria Teresa, Sheykholeslami, Shayan, Le Borgne, Gaëlle, Dastot‐Le Moal, Florence, Malan, Valérie, Karabina, Sonia, Mahevas, Mathieu, Chantot‐Bastaraud, Sandra, Lecron, Jean‐Claude, Faivre, Laurence, Amselem, Serge
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2014)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2014)
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Journal Article
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
Juge, Pierre-Antoine, Borie, Raphaël, Kannengiesser, Caroline, Gazal, Steven, Revy, Patrick, Wemeau-Stervinou, Lidwine, Debray, Marie-Pierre, Ottaviani, Sébastien, Marchand-Adam, Sylvain, Nathan, Nadia, Thabut, Gabriel, Richez, Christophe, Nunes, Hilario, Callebaut, Isabelle, Justet, Aurélien, Leulliot, Nicolas, Bonnefond, Amélie, Salgado, David, Richette, Pascal, Desvignes, Jean-Pierre, Lioté, Huguette, Froguel, Philippe, Allanore, Yannick, Sand, Olivier, Dromer, Claire, Flipo, René-Marc, Clément, Annick, Béroud, Christophe, Sibilia, Jean, Coustet, Baptiste, Cottin, Vincent, Boissier, Marie-Christophe, Wallaert, Benoit, Schaeverbeke, Thierry, Dastot le Moal, Florence, Frazier, Aline, Ménard, Christelle, Soubrier, Martin, Saidenberg, Nathalie, Valeyre, Dominique, Amselem, Serge, Boileau, Catherine, Crestani, Bruno, Dieudé, Philippe
Published in The European respiratory journal (01.05.2017)
Published in The European respiratory journal (01.05.2017)
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Journal Article
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer
Nathan, Nadia, Giraud, Violaine, Picard, Clément, Nunes, Hilario, Dastot-Le Moal, Florence, Copin, Bruno, Galeron, Laurie, De Ligniville, Alice, Kuziner, Nathalie, Reynaud-Gaubert, Martine, Valeyre, Dominique, Couderc, Louis-Jean, Chinet, Thierry, Borie, Raphaël, Crestani, Bruno, Simansour, Maud, Nau, Valérie, Tissier, Sylvie, Duquesnoy, Philippe, Mansour-Hendili, Lamisse, Legendre, Marie, Kannengiesser, Caroline, Coulomb-L'Hermine, Aurore, Gouya, Laurent, Amselem, Serge, Clement, Annick
Published in Human molecular genetics (15.04.2016)
Published in Human molecular genetics (15.04.2016)
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Journal Article
RNF213-associated urticarial lesions with hypercytokinemia
Louvrier, Camille, Awad, Fawaz, Cosnes, Anne, El Khouri, Elma, Assrawi, Eman, Daskalopoulou, Aphrodite, Copin, Bruno, Bocquet, Hélène, Chantot Bastaraud, Sandra, Arenas Garcia, Angela, Dastot Le Moal, Florence, De La Grange, Pierre, Duquesnoy, Philippe, Guerrera, Chiara I., Piterboth, William, Ortonne, Nicolas, Chosidow, Olivier, Karabina, Sonia A., Amselem, Serge, Giurgea, Irina
Published in Journal of allergy and clinical immunology (01.12.2022)
Published in Journal of allergy and clinical immunology (01.12.2022)
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Journal Article
Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
McGaughran, Julie, Sinnott, Stephen, Moal, Florence Dastot‐Le, Wilson, Meredith, Mowat, David, Sutton, Bridget, Goossens, Michel
Published in American journal of medical genetics. Part A (01.09.2005)
Published in American journal of medical genetics. Part A (01.09.2005)
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Journal Article
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
Jeanson, Ludovic, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Cadranel, Jacques, Corvol, Harriet, Coste, André, Désir, Julie, Souayah, Anissa, Kott, Esther, Collot, Nathalie, Tissier, Sylvie, Louis, Bruno, Tamalet, Aline, de Blic, Jacques, Clement, Annick, Escudier, Estelle, Amselem, Serge, Legendre, Marie
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Journal Article
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization
Jeanson, Ludovic, Thomas, Lucie, Copin, Bruno, Coste, André, Sermet-Gaudelus, Isabelle, Dastot-Le Moal, Florence, Duquesnoy, Philippe, Montantin, Guy, Collot, Nathalie, Tissier, Sylvie, Papon, Jean-François, Clement, Annick, Louis, Bruno, Escudier, Estelle, Amselem, Serge, Legendre, Marie
Published in Human mutation (01.08.2016)
Published in Human mutation (01.08.2016)
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Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome
Bassez, Guillaume, Camand, Olivier J.A, Cacheux, Valère, Kobetz, Alexandra, Dastot-Le Moal, Florence, Marchant, Dominique, Catala, Martin, Abitbol, Marc, Goossens, Michel
Published in Neurobiology of disease (01.03.2004)
Published in Neurobiology of disease (01.03.2004)
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Journal Article
Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
Doco-Fenzy, Martine, Mauran, Pierre, Marie Lebrun, Jean, Bock, Sylvie, Bednarek, Nathalie, Struski, Stéphanie, Albuisson, Juliette, Ardalan, Azarnouche, Collot, Nathalie, Schneider, Anouck, Dastot-Le Moal, Florence, Gaillard, Dominique, Goossens, Michel
Published in American journal of medical genetics. Part A (01.02.2006)
Published in American journal of medical genetics. Part A (01.02.2006)
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Journal Article
Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4
Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J.A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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Journal Article
Functional consequences of a germline mutation in the leucine‐rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder
Jéru, Isabelle, Marlin, Sandrine, Le Borgne, Gaëlle, Cochet, Emmanuelle, Normand, Sylvain, Duquesnoy, Philippe, Dastot‐Le Moal, Florence, Cuisset, Laurence, Hentgen, Véronique, Fernandes Alnemri, Teresa, Lecron, Jean‐Claude, Dhote, Robin, Grateau, Gilles, Alnemri, Emad S., Amselem, Serge
Published in Arthritis and rheumatism (01.04.2010)
Published in Arthritis and rheumatism (01.04.2010)
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