Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Serge Romana"'
Autor:
Laura Ponson, Frédérique Bonnet-Brilhault, Sylvie Roux, Romuald Blanc, Valérie Malan, Nadia Aguillon-Hernandez, Catherine Barthélémy, Serge Romana, Arnold Munnich, Marie Gomot
Publikováno v:
Translational Psychiatry
Phelan-McDermid syndrome is related to terminal 22q13 deletions of various sizes affecting the SHANK3 gene. In this neurodevelopmental disorder, behavioural symptoms of autism spectrum disorder (ASD) are reported in half of cases. Extensive clinical
Autor:
Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh
Publikováno v:
Journal of medical genetics. 55(6)
The Xq28 duplication involving the
Autor:
Fabienne Giuliano, Olivier Pichon, Lucile Pinson, Bénédicte Duban-Bedu, Valérie Malan, Emilie Bourel-Ponchel, Rima Nabbout, Mathilde Nizon, Delphine Héron, Marlène Rio, Béatrice Bourgois, Odile Boute, Alice Goldenberg, Sarah Grotto, Sylvie Nusbaum, Odile Raoul, Catherine Turleau, Eric Le Galloudec, Joris Andrieux, Houda Karmous-Benailly, Bruno Delobel, Marie-Christine de Blois, Boris Keren, Martine Le Merrer, Laurence Colleaux, Cédric Le Caignec, Albert David, Serge Romana, Jean-Michel Lapierre, Agnès Roubertie, Didier Lacombe, Caroline Rooryck, Michel Vekemans, Michèle Mathieu-Dramard, Anne-Gaëlle Le Moing
Publikováno v:
American Journal of Medical Genetics Part A. 167:111-122
Array comparative genomic hybridization (array CGH) has proven its utility in uncovering cryptic rearrangements in patients with X-linked intellectual disability. In 2009, Giorda et al. identified inherited and de novo recurrent Xp11.23p11.22 microdu
Autor:
Bettina Bessières, Tania Attié-Bitach, Michel Vekemans, Yves Ville, Emmanuel Spaggiari, Valérie Malan, Serge Romana, Julien Stirnemann, Constance Wells
Publikováno v:
American journal of medical genetics. Part A. (1)
Molecular cytogenetics, particularly array-CGH, opened the way to the « genotype first approach » and for the discovery of new micro rearrangement syndromes. This was the case for the 8q24.3 microdeletion syndrome. Here, we describe the phenotype o
Autor:
Serge Romana, Charles G. Mullighan, Nicole Brousse, Sven Kracker, Arndt Borkhardt, Amine Boudil, Marina Cavazzana-Calvo, Julie Bruneau, Julia Hauer, Estelle Morillon, Salima Hacein-Bey-Abina, Daniela Tiedau, Frederick D Bushmann, Marc Lelorc'h, Gary P. Wang, Alain Fischer
Publikováno v:
Blood. 118:544-553
In human B-acute lymphoblastic leukemia (B-ALL), RAG1-induced genomic alterations are important for disease progression. However, given that biallelic loss of the RAG1 locus is observed in a subset of cases, RAG1's role in the development of B-ALL re
Autor:
Patrick Edery, Catherine Rey, Vladimir Lazar, Damien Sanlaville, Anne Fautrelle, Marc Le Lorc'h, Caroline Schluth-Bolard, Serge Romana, Emmanuelle Banquart, Audrey Labalme, Marianne Till, Tanguy Martin-Denavit
Publikováno v:
European Journal of Medical Genetics. 51:156-164
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 microde
Autor:
Béatrice Laudier, Damien Sanlaville, Céline Bernardin, Annick Toutain, Delphine Héron, Michel Vekemans, Serge Romana, Boris Keren, Louise Telvi, Bernard Fouquet
Publikováno v:
European Journal of Medical Genetics. 50:469-474
We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5Mb of DNA. Molecular studies showed that the two telomeric breakpoints were within the same DNA clone (BAC RP11-56D12). The ce
Autor:
Florence Demurger, Amanda Krause, Tania Attié-Bitach, Muriel Holder, Clarisse Baumann, Mélanie Fradin, Alain Liquier, Joelle Roume, Laurent Pasquier, Fabienne Giuliano, Valérie Cormier-Daire, Daniel Amram, Martine Le Merrer, Odile Boute, Chloé Quélin, Férechté Encha-Razavi, Serge Romana, Marie-Liesse Chauvet, Soumaya Mougou-Zerelli, Lionel Van Maldergem, Bertrand Isidor, Sylvie Odent, Fanny Laffargue, Massimiliano Rossi, Sylvie Manouvrier, Marie-Ange Delrue, Sheela Nampoothiri, André Mégarbané, Marie Gonzales, Alexandra Afenjar, Louise Devisme, Gwenaelle André, Martine Sinico, Anne Dieux-Coeslier, Nicole Philip, Sandra Mercier, Odile Raoul, Géraldine Viot, Marie-Line Jacquemont, Elise Schaefer, Laurence Faivre, Géraldine Goudefroye, Didier Lacombe, Amale Ichkou, Michel Vekemans, Marylin Lackmy-Port-Lis, Arnold Munnich, Jeanne Amiel, Anne-Lise Delezoide, Catherine Vincent-Delorme, Geneviève Baujat, David Geneviève
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2014, 23 (1), pp.92-102. 〈10.1038/ejhg.2014.62〉
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2014, 23 (1), pp.92-102. 〈10.1038/ejhg.2014.62〉
International audience; The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede632adbe94da78b1c73d152495d03a
https://hal.science/hal-01064583
https://hal.science/hal-01064583
Autor:
Christelle Dubourg, Joris Andrieux, Stanislas Lyonnet, Pietro Palumbo, Chantal Missirian, Alice Masurel, Brigitte Benzacken, Alain Verloes, Nathalie Marle, Anne Lise Delezoide, Clarisse Baumann, Aimé Ravel, Valérie Malan, Anne Claude Tabet, Laila El Khattabi, Muriel Holder-Espinasse, Serge Romana, Mylène Valduga, Laurence Faivre, Anne Moncla, Hélène Dessuant, Sylvie Jaillard, Jean Michel Dupont, Sonia Bouquillon, Alexandre Moerman, Séverine Drunat, Fabien Guimiot, Hubert Journel, Bruno Delobel, Massimo Carella, Sylvie Odent, Florence Demurger, Céline Dupont, Eva Pipiras, Andrée Delahaye, Marie Vermelle, Orazio Palumbo
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2014, 23, pp.1010-1018. 〈10.1038/ejhg.2014.230〉
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2014, 23, pp.1010-1018. 〈10.1038/ejhg.2014.230〉
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b7dd2000162f5934bb4a47d30c3f18
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116591
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116591
Autor:
Michel Vekemans, Catherine Turleau, Laurence Faivre, Irina Giurgea, Arnold Munnich, Jeanne Amiel, Marguerite Prieur, Valérie Cormier-Daire, Laurent Pasquier, Serge Romana, Philippe Gosset, Sylvie Odent, M.C. Nassogne, Marie-Christine de Blois
Publikováno v:
European journal of human genetics : EJHG. 10(11)
Overgrowth is rarely associated with chromosomal imbalances. Here we report on four children from two unrelated families presenting with overgrowth and a terminal duplication of the long arm of chromosome 15 diagnosed using cytogenetic and FISH studi