Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3-F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry
Pissard, Serge, Moyrand, Claire Bobrie, Peron, Anne, Bodereau, Virginie, Bichr, Allaf, El Osta, Marven, Gouriou, Yann, Ducoroy, Patrick, Wajcman, Henri
Published in International journal of laboratory hematology (01.12.2023)
Published in International journal of laboratory hematology (01.12.2023)
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Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description
Tran Houangkeo, Thi Hai Yen, Bodereau, Virginie, Riou, Jean, Pissard, Serge
Published in Hemoglobin (01.08.2016)
Published in Hemoglobin (01.08.2016)
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
LEGER, Sandy, BALGUERIE, Xavier, JAMIESON, Robyn V, KRAUSE, Amanda, HONGSHENG CHEN, BAUMANN, Clarisse, NUNES, Luis, DOLLFUS, Helene, GOOSSENS, Michel, PINGAULT, Véronique, GOLDENBERG, Alice, DROUIN-GARRAUD, Valérie, CABOT, Annick, AMSTUTZ-MONTADERT, Isabelle, YOUNG, Paul, JOLY, Pascal, BODEREAU, Virginie, HOLDER-ESPINASSE, Muriel
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome
Drévillon, Loïc, Megarbane, André, Demeer, Bénédicte, Matar, Corine, Benit, Paule, Briand-Suleau, Audrey, Bodereau, Virginie, Ghoumid, Jamal, Nasser, Mayssa, Decrouy, Xavier, Doco-Fenzy, Martine, Rustin, Pierre, Gaillard, Dominique, Goossens, Michel, Giurgea, Irina
Published in Human molecular genetics (15.06.2013)
Published in Human molecular genetics (15.06.2013)
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Journal Article
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes: Non-truncating mutations of the MITF basic domain
Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V., Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique
Published in European journal of human genetics : EJHG (01.05.2012)
Published in European journal of human genetics : EJHG (01.05.2012)
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Journal Article
A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3-F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry
Pissard, Serge, Moyrand, Claire Bobrie, Peron, Anne, Bodereau, Virginie, Bichr, Allaf, El Osta, Marven, Gouriou, Yann, Ducoroy, Patrick, Wajcman, Henri
Published in International journal of laboratory hematology (01.12.2023)
Published in International journal of laboratory hematology (01.12.2023)
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