MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia
Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Published in Human reproduction (Oxford) (01.08.2012)
Published in Human reproduction (Oxford) (01.08.2012)
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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Journal Article
190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly
Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Journal Article
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene
Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P.-S., Satre, V.
Published in Molecular syndromology (01.01.2014)
Published in Molecular syndromology (01.01.2014)
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Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia
Faure, A.K., Aknin-Seifer, I., Satre, V., Amblard, F., Devillard, F., Hennebicq, S., Chouteau, J., Bergues, U., Levy, R., Rousseaux, S.
Published in Human reproduction (Oxford) (01.07.2007)
Published in Human reproduction (Oxford) (01.07.2007)
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Hyperechogenic fetal bowel: A large French collaborative study of 682 cases
Simon-Bouy, B., Satre, V., Ferec, C., Malinge, M.C., Girodon, E., Denamur, E., Leporrier, N., Lewin, P., Forestier, F., Muller, F.
Published in American journal of medical genetics. Part A (01.09.2003)
Published in American journal of medical genetics. Part A (01.09.2003)
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Journal Article
Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome
Satre, V., Monnier, N., Devillard, F., Amblard, F., Lunardi, Pr J.
Published in Prenatal diagnosis (01.11.2004)
Published in Prenatal diagnosis (01.11.2004)
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Multiplex Ligation-dependent Probe Amplification (MLPA) et sondes « à façon » entièrement synthétiques. Guide pratique, recommandations et expérience au CHU de Grenoble
Coutton, C, Vieville, G, Satre, V, Devillard, F, Amblard, F
Published in Ingénierie et recherche biomédicale (01.06.2012)
Published in Ingénierie et recherche biomédicale (01.06.2012)
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Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene
Satre, Véronique, Monnier, Nicole, Berthoin, Florence, Ayuso, Carmen, Joannard, Alain, Jouk, Pierre-Simon, Lopez-Pajares, Isidora, Megabarne, André, Philippe, Henri Jean, Plauchu, Henri, Torres, Maria Luisa, Lunardi, Joël
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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Journal Article
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
Coutton, Charles, Martinez, Guillaume, Kherraf, Zine-Eddine, Amiri-Yekta, Amir, Boguenet, Magalie, Saut, Antoine, He, Xiaojin, Zhang, Feng, Cristou-Kent, Marie, Escoffier, Jessica, Bidart, Marie, Satre, Véronique, Conne, Béatrice, Fourati Ben Mustapha, Selima, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Pernet-Gallay, Karin, Bonhivers, Mélanie, Hennebicq, Sylviane, Rives, Nathalie, Dulioust, Emmanuel, Touré, Aminata, Gourabi, Hamid, Cao, Yunxia, Zouari, Raoudha, Hosseini, Seyedeh Hanieh, Nef, Serge, Thierry-Mieg, Nicolas, Arnoult, Christophe, Ray, Pierre F.
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Journal Article
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Sy, Mary R., Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo‐Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti‐Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille M., Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni Battista, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos A., Kuwahara, Akela, Bush, Jeffrey O., Zhao, Xiaonan, Luna, Pamela N., Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
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Journal Article
Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia
Ben Khelifa, Mariem, Coutton, Charles, Blum, Michael G.B., Abada, Farid, Harbuz, Radu, Zouari, Raoudha, Guichet, Agnès, May-Panloup, Pascale, Mitchell, Valérie, Rollet, Jacques, Triki, Chema, Merdassi, Ghaya, Vialard, François, Koscinski, Isabelle, Viville, Stéphane, Keskes, Leila, Soulie, Jean Pierre, Rives, Nathalie, Dorphin, Béatrice, Lestrade, Florence, Hesters, Laeticia, Poirot, Catherine, Benzacken, Brigitte, Jouk, Pierre-Simon, Satre, Véronique, Hennebicq, Sylviane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.
Published in Human reproduction (Oxford) (01.11.2012)
Published in Human reproduction (Oxford) (01.11.2012)
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Journal Article
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot‐Bastaraud, S., Doco‐Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca‐Boidron, A.‐L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A.‐M., Chambon, P., Satre, V., Coutton, C., Jouk, P.‐S., Devillard, F., Dieterich, K., Afenjar, A., Burglen, L., Moutard, M.‐L., Addor, M.‐C., Lebon, S., Martinet, D., Alessandri, J.‐L., Doray, B., Miguet, M., Devys, D., Saugier‐Veber, P., Drunat, S., Aral, B., Kremer, V., Rondeau, S., Tabet, A.‐C., Thevenon, J., Thauvin‐Robinet, C., Perreton, N., Des Portes, V., Faivre, L.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
Schluth-Bolard, C., Diguet, F., Rollat-Farnier, P. A., Amiel, J., Belaud-Rotureau, M. A., Benzacken, B., Callier, P., Chatron, N., Collignon, P., Demeer, Bénédicte, Doco-Fenzy, M., Faivre, L., Gilbert-Dussardier, B., Guerrot, A. M., Jaillard, S., Keren, B., Kremer, V., Lacombe, D., Lebbar, A., Le Caignec, C., Lespinasse, J., Malan, V., Mathieu-Dramard, M., Missirian, C., Moncla, A., Odent, S., Pebrel-Richard, C., Paquis, V., Portnoi, M. F., Puechberty, J., Rooryck-Thambo, C., Satre, V., Tabet, A. C., Touraine, R., Toutain, A., Vekemans, M., Verloes, A., Edery, P., Sanlaville, D.
Published in European journal of human genetics : EJHG (2018)
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Published in European journal of human genetics : EJHG (2018)
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
Marle, N., Martinet, D., Aboura, A., Joly-Helas, G., Andrieux, J., Flori, E., Puechberty, J., Vialard, F., Sanlaville, D., Fert Ferrer, S., Bourrouillou, G., Tabet, A.C., Quilichini, B., Simon-Bouy, B., Bazin, A., Becker, M., Stora, H., Amblard, S., Doco-Fenzy, M., Molina Gomes, D., Girard-Lemaire, F., Cordier, M.P., Satre, V., Schneider, A., Lemeur, N., Chambon, P., Jacquemont, S., Fellmann, F., Vigouroux-Castera, A., Molignier, R., Delaye, A., Pipiras, E., Liquier, A., Rousseau, T., Mosca, A.L., Kremer, V., Payet, M., Rangon, C., Mugneret, F., Aho, S., Faivre, L., Callier, P.
Published in Clinical genetics (01.03.2014)
Published in Clinical genetics (01.03.2014)
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Prévalence et caractéristiques étiologiques des enfants avec déficience intellectuelle légère dans le département de l’Isère
Devillard, F., David, M., Dieterich, K., Coutton, C., Satre, V., Amblard, F., Vieville, G., Counillon, J., Billette De Villemeur, A., Cans, C., Jouk, P.-S.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
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