Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Serge Romana"'
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:
Laurence Colleaux, Damien Sanlaville, Louise Galmiche, Serge Romana, Emmanuel Plouvier, Thierry Leblanc, Anne Guimier, Jeanne Amiel, Isabelle Radford, Stanislas Lyonnet, Loïc de Pontual, Daphné Lehalle
Publikováno v:
American Journal of Medical Genetics Part A. 164:1310-1317
Neuroblastoma is the most frequent extra cranial solid tumor in infants and children. Genetic predisposition to neuroblastoma has been suspected previously due to familial cases of sporadic NB and predisposition to NB in several syndromes. Here, we r
Autor:
Olivier Goulet, Claude Houdayer, Marie Christine De Blois, Jean Pierre Fryns, Dominique Stoppa-Lyonnet, Damien Sanlaville, Stanislas Lyonnet, Charis Eng, Michel Vekemans, Capucine Delnatte, J. F. Mougenot, Joris Vermeesch, Serge Romana, David Geneviève, Francis Jaubert
Publikováno v:
The American Journal of Human Genetics. 78:1066-1074
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion
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:
Anne Hagemeijer, Maryvonne Busson, Laurence Benattar, Benoît Quilichini, Isabelle Radford-Weiss, Roland Berger, Lucienne Michaux, Olivier Bernard, Nicole Dastugue, Serge Romana
Publikováno v:
Cancer Genetics and Cytogenetics. 164:71-73
Since the RUNX1 gene contributes to megakaryopoiesis and acquired trisomy 21 is the most frequent numerical chromosome anomaly in acute megakaryoblastic leukemia (AMLK), a systematic study of RUNX1 abnormalities was performed by fluorescence in situ
Autor:
Hervé Dombret, Raouf Ben Abdelali, Norbert Ifrah, Salvatore Spicuglia, Ludovic Lhermitte, Serge Romana, Stephanie Sungalee, Céline Callens, Marie-Josée Grégoire, Sandrine Le Noir, Jean Soulier, Patrick Villarese, Laurence Baranger, Julie Bergeron, Isabelle Radford-Weiss, Vahid Asnafi, Elizabeth Macintyre, Dominique Payet-Bornet, Bertrand Nadel, Arnaud Petit, M. Lelorc’h
Publikováno v:
Blood
Blood, 2012, 120 (16), pp.3298--3309. ⟨10.1182/blood-2012-04-425488⟩
Blood, 2012, 120 (16), pp.3298--3309. 〈10.1182/blood-2012-04-425488〉
Blood, American Society of Hematology, 2012, 120 (16), pp.3298--3309. ⟨10.1182/blood-2012-04-425488⟩
Blood, 2012, 120 (16), pp.3298--3309. ⟨10.1182/blood-2012-04-425488⟩
Blood, 2012, 120 (16), pp.3298--3309. 〈10.1182/blood-2012-04-425488〉
Blood, American Society of Hematology, 2012, 120 (16), pp.3298--3309. ⟨10.1182/blood-2012-04-425488⟩
Chromosomal translocations involving the TCR loci represent one of the most recurrent oncogenic hallmarks of T-cell acute lymphoblastic leukemia (T-ALL) and are generally believed to result from illegitimate V(D)J recombination events. However, molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5fd97a4de392bb7ccf353a7a7bce45
https://hal-amu.archives-ouvertes.fr/hal-01614958
https://hal-amu.archives-ouvertes.fr/hal-01614958
Autor:
M. Chaabouni, Heather C. Etchevers, Serge Romana, Marie Christine Waill-Perrier, Michel Vekemans, Patrick Calvas, Marie Christine De Blois
Publikováno v:
Investigative ophthalmologyvisual science. 51(9)
PURPOSE Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including aniridia and aphakia, a complex chromosomal rearrangeme
Autor:
Juliane Leger, Didier Lacombe, Aurore Carré, Hubert Ythier, Elodie Tron, Sylvia Sura-Trueba, Michel Polak, Serge Romana, Marie-Laure Moutard, Catherine Raynaud-Ravni, Isabelle Broutin-L'Hermite, Mireille Castanet, Gabor Szinnai, Christine Raybaud, Cyril Goizet, Pascal Barat
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2009, 18 (12), pp.2266-2276. ⟨10.1093/hmg/ddp162⟩
Human Molecular Genetics, Oxford University Press (OUP), 2009, 18 (12), pp.2266-2276. ⟨10.1093/hmg/ddp162⟩
Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4f57fcc311401975b2bd4f4d283171c
https://hal.archives-ouvertes.fr/hal-02519920
https://hal.archives-ouvertes.fr/hal-02519920
Autor:
Pascaline Talmant, Christine Cabrol, Christine Perot, Pascale Cornillet-Lefebvre, Jean-Luc Laï, J van den Akker, C. Charrin, C. Schluth, Isabelle Luquet, Serge Romana, R. Ben Abdelali, Chrystele Bilhou-Nabera, Marina Lafage-Pochitaloff, M J Mozziconacci, Florence Nguyen-Khac, Marie-Christiane Vekemans, Hélène Poirel, Christine Terré, Isabelle Radford-Weiss, Roland Berger, Katrina Rack, N. Nadal, Olivier Bernard, Arnaud Petit, Francine Mugneret, Sandra Fert-Ferrer, Isabelle Tigaud, J. Andrieu, Nicole Dastugue
Publikováno v:
Leukemia. 20(4)
The NUP98 gene is fused with 19 different partner genes in various human hematopoietic malignancies. In order to gain additional clinico-hematological data and to identify new partners of NUP98, the Groupe Francophone de Cytogenetique Hematologique (
Autor:
Catherine Ozilou, Laurence Faivre, Valérie Cormier-Daire, Damien Sanlaville, Genevieve Abeguile, Michel Vekemans, Serge Romana, Dinane Boustani-Samara, Arnold Munnich, Marguerite Jambou, Graziella Pinto, Philippe Gosset, David Geneviève, Marie-Laure Kottler, Odile Raoul
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2005, 13, pp.1033-1039
European Journal of Human Genetics, Nature Publishing Group, 2005, 13, pp.1033-1039
Deletions of the long arm of chromosome 20 are rare. Here, we report on two girls with a very small interstitial deletion of the long arm of chromosome 20 presenting with severe pre- and post-natal growth retardation, intractable feeding difficulties