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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An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation
Sinigaglia, Ketty, Cherian, Anna, Du, Qiupei, Lacovich, Valentina, Vukić, Dragana, Melicherová, Janka, Linhartova, Pavla, Zerad, Lisa, Stejskal, Stanislav, Malik, Radek, Prochazka, Jan, Bondurand, Nadège, Sedláček, Radislav, O’Connell, Mary A., Keegan, Liam P.
Published in Cell reports (Cambridge) (27.08.2024)
Published in Cell reports (Cambridge) (27.08.2024)
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Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome
Chaoui, Asma, Watanabe, Yuli, Touraine, Renaud, Baral, Viviane, Goossens, Michel, Pingault, Veronique, Bondurand, Nadege
Published in Human mutation (01.12.2011)
Published in Human mutation (01.12.2011)
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Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development
Stanchina, Laure, Van de Putte, Tom, Goossens, Michel, Huylebroeck, Danny, Bondurand, Nadege
Published in Developmental biology (15.05.2010)
Published in Developmental biology (15.05.2010)
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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome
Ghoumid, Jamal, Drevillon, Loïc, Alavi-Naini, Seyedeh Maryam, Bondurand, Nadège, Rio, Marlène, Briand-Suleau, Audrey, Nasser, Mayssa, Goodwin, Linda, Raymond, Patrick, Yanicostas, Constantin, Goossens, Michel, Lyonnet, Stanislas, Mowat, David, Amiel, Jeanne, Soussi-Yanicostas, Nadia, Giurgea, Irina
Published in Human molecular genetics (01.07.2013)
Published in Human molecular genetics (01.07.2013)
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Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis
Gazquez, Elodie, Watanabe, Yuli, Broders-Bondon, Florence, Paul-Gilloteaux, Perrine, Heysch, Julie, Baral, Viviane, Bondurand, Nadège, Dufour, Sylvie
Published in Scientific reports (01.12.2016)
Published in Scientific reports (01.12.2016)
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A 22q13.1 duplication in mosaicism including SOX10
Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique
Published in American journal of medical genetics. Part A (01.12.2023)
Published in American journal of medical genetics. Part A (01.12.2023)
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Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease
Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M W, Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Published in PloS one (06.05.2013)
Published in PloS one (06.05.2013)
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LKB1 specifies neural crest cell fates through pyruvate-alanine cycling
Radu, Anca G, Torch, Sakina, Fauvelle, Florence, Pernet-Gallay, Karin, Lucas, Anthony, Blervaque, Renaud, Delmas, Véronique, Schlattner, Uwe, Lafanechère, Laurence, Hainaut, Pierre, Tricaud, Nicolas, Pingault, Véronique, Bondurand, Nadège, Bardeesy, Nabeel, Larue, Lionel, Thibert, Chantal, Billaud, Marc
Published in Science advances (01.07.2019)
Published in Science advances (01.07.2019)
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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
Mousty, Eve, Issa, Sarah, Grosjean, Frédéric, Col, Jean-Yves, Khau Van Kien, Philippe, Perez, Marie-Josée, Petrov, Yuliya, Reboul, Dorothée, Faubert, Emmanuelle, Le Gac, Marie-Pascale, Bondurand, Nadège, Chiesa, Jean, Pingault, Véronique
Published in Prenatal diagnosis (01.12.2015)
Published in Prenatal diagnosis (01.12.2015)
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Journal Article
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
PINGAULT, Véronique, GIRARD, Mathilde, BONDURAND, Nadège, DORKINS, Huw, VAN MALDERGEM, Lionel, MOWAT, David, SHIMOTAKE, Takashi, VERMA, Ishwar, BAUMANN, Clarisse, GOOSSENS, Michel
Published in Human genetics (01.08.2002)
Published in Human genetics (01.08.2002)
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Journal Article
ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development
Gacem, Nadjet, Kavo, Anthula, Zerad, Lisa, Richard, Laurence, Mathis, Stephane, Kapur, Raj P, Parisot, Melanie, Amiel, Jeanne, Dufour, Sylvie, de la Grange, Pierre, Pingault, Veronique, Vallat, Jean Michel, Bondurand, Nadege
Published in Nature communications (10.01.2020)
Published in Nature communications (10.01.2020)
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Journal Article
Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients
Kuhlbrodt, Kirsten, Schmidt, Claudia, Sock, Elisabeth, Pingault, Véronique, Bondurand, Nadège, Goossens, Michel, Wegner, Michael
Published in The Journal of biological chemistry (04.09.1998)
Published in The Journal of biological chemistry (04.09.1998)
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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
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
BONDURAND, Nadége, FOUQUET, Virginie, BARAL, Viviane, LECERF, Laure, LOUNDON, Natalie, GOOSSENS, Michel, DURIEZ, Benedicte, LABRUNE, Philippe, PINGAULT, Veronique
Published in European journal of human genetics : EJHG (01.09.2012)
Published in European journal of human genetics : EJHG (01.09.2012)
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