Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Houda Karmous-Benailly"'
Autor:
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 191(1)
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal 19p13.3 microduplication syndrome was described, associated with growth delay, microceph
Autor:
Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for membe
Autor:
Odile Boute, Lyse Ruaud, Aafke Engwerda, Anne-Claude Tabet, Lionel Van Maldergem, Patrick Callier, Bérénice Schell, Céline Dupont, Jessica Assoumani, Caroline Benech, Nathalie Marle, Nathalie Couque, Houda Karmous-Benailly, Jonathan Levy, Elise Boudry Labis, Mélanie Rama, Alain Verloes, Sylvia Redon, Myriam Rachid, Conny M. A. Ravenswaaij‐Arts, Laurence Faivre, Morgane Plutino, Paul Kuentz, Hala Nasser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1b963ac1a0a8b3e691b08b6f668fe6
https://doi.org/10.1111/cge.14017/v3/response1
https://doi.org/10.1111/cge.14017/v3/response1
Autor:
Chantal Missirian, Houda Karmous-Benailly, Nicole Philip, Linda Mouthon, Tiffany Busa, Florence Bretelle, Sabine Sigaudy
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 179 (12), pp.2365-2373. ⟨10.1002/ajmg.a.61359⟩
American Journal of Medical Genetics Part A, 2019, 179 (12), pp.2365-2373. ⟨10.1002/ajmg.a.61359⟩
American Journal of Medical Genetics Part A, Wiley, 2019, 179 (12), pp.2365-2373. ⟨10.1002/ajmg.a.61359⟩
American Journal of Medical Genetics Part A, 2019, 179 (12), pp.2365-2373. ⟨10.1002/ajmg.a.61359⟩
Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term progno
Autor:
Fabienne Giuliano, Kathy Wagner-Mahler, Marine Bourcier, Etienne Bérard, Frederique Gastaud, Marie Hoflack, Elise Robart, Celine Jouannelle, Houda Karmous-Benailly, Yves Morel, Patricia Ferrari, Jean-Yves Kurzenne, Pamela Moceri
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys. Methods We describe the follow‐up over almost
Autor:
Jeanne Amiel, Sophie Julia, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Paul Kuentz, Salima El Chehadeh, Stanislas Lyonnet, Bruno Leheup, Elodie Gautier, Odile Boute-Benejean, Nathalie Le Meur, Sandrine Marlin, Irène François, Delphine Héron, Marianne Till, Patrick Edery, Houda Karmous Benailly, Serge Romana, Nicole Philip, Patrick Callier, Valérie Cormier-Daire, Bénédicte Héron, Adeline Vigouroux-Castera, Mathilde Lefebvre, Chantal Missirian, Sylvie Odent, Fanny Morice-Picard, Roseline Caumes, Dominique Martin, Cédric Le Caignec, Nicolas Chassaing, Claire Benneteau, Anne-Laure Mosca-Boidron, Claude Ferrec, Anne-Marie Guerrot, Sylvie Manouvrier-Hanu, Eva Piparas, Damien Sanlaville, Florence Petit, Stéphanie Arpin, Sébastien Moutton, Marie-Pierre Alex-Cordier, Elodie Cretin, Laurence Faivre, Sabine Sigaudy, Tiffany Busa, Brigitte Gilbert-Dussardier, Sandra Chantot-Bastaraud, Julien Thevenon, Alexandra Afenjar, Annick Toutain, Boris Keren, Anne Philippe, Valérie Malan, Laetitia Lambert, Sandra Mercier, Elise Schaefer, James Lespinasse, Nathalie Marle, Sylvia Redon, Fabienne Giuliano, Isabelle Mortemousque, Philippe Khau Van Kien, Pierre Bitoun, Alice Goldenberg, Sophie Blesson, Michèle Marti-Dramard
Publikováno v:
Clinical Genetics. 89:630-635
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being con
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:
Fabienne Giuliano, Christophe Massol, Letizia Crouzet-Ozenda, Kathy Wagner-Mahler, Jean-Claude Lambert, Houda Karmous-Benailly, Manal Dayem-Quere
Publikováno v:
American Journal of Medical Genetics Part A. 161:1547-1554
We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array-CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The m
Autor:
Thibault Fabas, Benjamin Hoch, Florence Pedeutour, Xavier Carpentier, Juliette Haudebourg, Damien Ambrosetti, Jean Amiel, Jean-Claude Lambert, Houda Karmous-Benailly, Jérôme Doyen
Publikováno v:
Cancer Genetics. 205:603-607
We observed a t(11;22)(q23-24;q11.2-12) and monosomy 3 in renal tumor cells from a 72-year-old man. The hypothesis of a primitive peripheral neuroectodermal tumor (PPNET) located in the kidney was promptly excluded: Histologically, the tumor was a cl
Autor:
Corine Bertolotto, Caroline Bonet, Charlotte Pandiani, Julie Bourseguin, Robert Ballotti, Emilie Renaud, Sandy Giuliano, Filippo Rosselli, Patrycja Pawlikowska, Houda Karmous-Benailly, Marina Boncompagni
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2016, 6, pp.36539. ⟨10.1038/srep36539⟩
Scientific Reports, 2016, 6, pp.36539. ⟨10.1038/srep36539⟩
Scientific Reports, Nature Publishing Group, 2016, 6 (1), ⟨10.1038/srep36539⟩
Scientific Reports, 2016, 6 (1), ⟨10.1038/srep36539⟩
Scientific Reports, Nature Publishing Group, 2016, 6, pp.36539. ⟨10.1038/srep36539⟩
Scientific Reports, 2016, 6, pp.36539. ⟨10.1038/srep36539⟩
Scientific Reports, Nature Publishing Group, 2016, 6 (1), ⟨10.1038/srep36539⟩
Scientific Reports, 2016, 6 (1), ⟨10.1038/srep36539⟩
Proteins involved in genetic stability maintenance and safeguarding DNA replication act not only against cancer initiation but could also play a major role in sustaining cancer progression. Here, we report that the FANC pathway is highly expressed in