檢索結果 - Goossens, Michel 

A new G to T polymorphism in the retinoblastoma gene RB1 detected by DGGE 由 Blanquet, Véronique, Turleau, Catherine, Goossens, Michel, Besmond, Claude

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The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease 由 Dieudé, Philippe, Goossens, Michel, Cornélis, François, Michou, Laëtitia, Bardin, Thomas

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Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling 由 Costa, Catherine, Frances, Anne-Marie, Letourneau, Sylvia, Girodon-Boulandet, Emmanuelle, Goossens, Michel

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Two cloned β thalassemia genes are associated with amber mutations at codon 39 由 Pergolizzi, Robert, Spritz, Richard A., Spence, Sally, Goossens, Michel, Kan, Yuet Wai, Bank, Arthur

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Reply to Cooper 由 Béraud-Colomb, Eliane, Roubin, Régine, Martin, Josiane, Maroc, Nicolas, Gardeisen, Armelle, Trabuchet, Guy, Goossens, Michel

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Mowat-Wilson syndrome in a Moroccan consanguineous family 由 Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz

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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 由 Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect 由 Préhu, Claude, Moradkhani, Kamran, Riou, Jean, Bahuau, Michel, Launay, Pierre, Martin, Natacha, Wajcman, Henri, Goossens, Michel, Galactéros, Frédéric

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 由 Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique

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Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease 由 Herbarth, Beate, Pingault, Veronique, Bondurand, Nadege, Kuhlbrodt, Kirsten, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Lemort, Nicole, Goossens, Michel, Wegner, Michael

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COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking 由 Drévillon, Loïc, Tanguy, Gaëlle, Hinzpeter, Alexandre, Arous, Nicole, de Becdelièvre, Alix, Aissat, Abdel, Tarze, Agathe, Goossens, Michel, Fanen, Pascale

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Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia 由 Pennarun, Gaëlle, Escudier, Estelle, Chapelin, Catherine, Bridoux, Anne-Marie, Cacheux, Valère, Roger, Gilles, Clément, Annick, Goossens, Michel, Amselem, Serge, Duriez, Bénédicte

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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease 由 Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie

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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies 由 de Becdelièvre, Alix, Costa, Catherine, LeFloch, Annick, Legendre, Marie, Jouannic, Jean-Marie, Vigneron, Jacqueline, Bresson, Jean-Luc, Gobin, Stéphanie, Martin, Josiane, Goossens, Michel, Girodon, Emmanuelle

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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism 由 Tosca, Lucie, Brisset, Sophie, Petit, François M, Lecerf, Laure, Rousseau, Ghislaine, Bas, Cécile, Laroudie, Mireille, Maurin, Marie-Laure, Tapia, Sylvie, Picone, Olivier, Prevot, Sophie, Goossens, Michel, Labrune, Philippe, Tachdjian, Gérard

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Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 由 Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C 由 Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne

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Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier 由 Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 由 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 

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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes 由 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

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