Search Results - "Vago, Philippe"

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies by Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François

“…Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical…”
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Early Telomere Shortening and Genomic Instability in Tubo-Ovarian Preneoplastic Lesions by CHENE, Gautier, TCHIRKOV, Andrei, PIERRE-EYMARD, Eleonore, DAUPLAT, Jacques, RAOELFILS, Ines, CAYRE, Anne, WATKIN, Emmanuel, VAGO, Philippe, PENAULT-LLORCA, Frederique

“…Genetic instability plays an important role in ovarian carcinogenesis. We investigated the level of telomere shortening and genomic instability in early and…”
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 by Pebrel-Richard, Céline, Debost-Legrand, Anne, Eymard-Pierre, Eléonore, Greze, Victoria, Kemeny, Stéphan, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Vago, Philippe, Goumy, Carole, Francannet, Christine

“…With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and…”
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Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay by Pebrel-Richard, Celine, Rouzade, Charles, Kemeny, Stephan, Eymard-Pierre, Eleonore, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Goumy, Carole, Vago, Philippe

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Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype by Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline

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THE RIGHT TO A CHROMOSOMICALLY PERFECT CHILD by Vago, Philippe

“…After defining the terms "perfect," "chromosomically" and "right" we discuss on the scope and terms of the right to a chromosomically perfect child. This right…”
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Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development? by Goumy, Carole, Veronese, Lauren, Stamm, Rodrigue, Domas, Quentin, Hadjab, Kamil, Gallot, Denis, Laurichesse, Hélène, Delabaere, Amélie, Gouas, Laetitia, Salaun, Gaelle, Perbel-Richard, Céline, Vago, Philippe, Tchirkov, Andrei

“…Abstract Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell…”
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Very long‐term molecular follow‐up of minimal residual disease in patients with neuroblastoma by Tchirkov, Andrei, Greze, Victoria, Plantaz, Dominique, Rouel, Nadège, Vago, Philippe, Kanold, Justyna

“…In high‐risk neuroblastoma (HR‐NB), the clinical significance of long‐term minimal residual disease (MRD) monitoring using quantitative reverse…”
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Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development? by Goumy, Carole, Veronese, Lauren, Stamm, Rodrigue, Domas, Quentin, Hadjab, Kamil, Gallot, Denis, Laurichesse, Hélène, Delabaere, Amélie, Gouas, Laetitia, Salaun, Gaelle, Perbel-Richard, Céline, Vago, Philippe, Tchirkov, Andrei

“…Abstract Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell…”
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Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells by Kemeny, Stephan, Tatout, Christophe, Salaun, Gaelle, Pebrel-Richard, Céline, Goumy, Carole, Ollier, Natasha, Maurin, Eugenie, Pereira, Bruno, Vago, Philippe, Gouas, Laetitia

“…In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas…”
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TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer by Gay-Bellile, Mathilde, Véronèse, Lauren, Combes, Patricia, Eymard-Pierre, Eleonore, Kwiatkowski, Fabrice, Dauplat, Marie-Mélanie, Cayre, Anne, Privat, Maud, Abrial, Catherine, Bignon, Yves-Jean, Mouret-Reynier, Marie-Ange, Vago, Philippe, Penault-Llorca, Frédérique, Tchirkov, Andrei

“…Upregulation of the telomerase reverse transcriptase ( ) gene in human cancers leads to telomerase activation, which contributes to the growth advantage and…”
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Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype by Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole

“…The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the…”
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Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage by Salaun, Gaëlle, Tchirkov, Andrei, Francannet, Christine, Pons-Rejraji, Hanae, Brugnon, Florence, Pebrel-Richard, Celine, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Goumy, Carole

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Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage by Salaun, Gaëlle, Tchirkov, Andrei, Francannet, Christine, Pons, Hanae, Brugnon, Florence, Pebrel-Richard, Celine, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Goumy, Carole

“…Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion…”
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Telomere status in chronic lymphocytic leukemia with TP53 disruption by Guièze, Romain, Pages, Mélanie, Véronèse, Lauren, Combes, Patricia, Lemal, Richard, Gay-Bellile, Mathilde, Chauvet, Martine, Callanan, Mary, Kwiatkowski, Fabrice, Pereira, Bruno, Vago, Philippe, Bay, Jacques-Olivier, Tournilhac, Olivier, Tchirkov, Andreï

“…In chronic lymphocytic leukemia (CLL), telomere dysfunction is associated with poor outcomes. TP53 is involved in cellular responses to dysfunctional…”
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis? by Moradkhani, Kamran, Cuisset, Laurence, Boisseau, Pierre, Pichon, Olivier, Lebrun, Marine, Hamdi‐Rozé, Houda, Maurin, Marie‐Laure, Gruchy, Nicolas, Manca‐Pellissier, Marie‐Christine, Malzac, Perrine, Bilan, Frédéric, Audrezet, Marie‐Pierre, Saugier‐Veber, Pascale, Fauret‐Amsellem, Anne‐Laure, Missirian, Chantal, Kuentz, Paul, Egea, Gregory, Guichet, Agnès, Creveaux, Isabelle, Janel, Caroline, Harzallah, Ines, Touraine, Renaud, Goumy, Carole, Joyé, Nicole, Puechberty, Jacques, Haquet, Emmanuelle, Chantot‐Bastaraud, Sandra, Schmitt, Sébastien, Gosset, Philippe, Duban‐Bedu, Bénédicte, Delobel, Bruno, Vago, Philippe, Vialard, François, Gomes, Denise Molina, Siffroi, Jean‐Pierre, Bonnefont, Jean‐Paul, Dupont, Jean‐Michel, Jonveaux, Philippe, Doco‐Fenzy, Martine, Sanlaville, Damien, Le Caignec, Cédric

“…Objective Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving…”
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Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature by Capron, Céline, Januel, Louis, Vieville, Gaëlle, Jaillard, Sylvie, Kuentz, Paul, Salaun, Gaëlle, Nadeau, Gwenaël, Clement, Patrice, Brechard, Marie Pierre, Herve, Bérénice, Dupont, Jean Michel, Gruchy, Nicolas, Chambon, Pascal, Abdelhedi, Fatma, Dahlen, Eric, Vago, Philippe, Harbuz, Radu, Plotton, Ingrid, Coutton, Charles, Belaud‐Rotureau, Marc‐Antoine, Schluth‐Bolard, Caroline, Vialard, François

“…Background The translocation of SRY onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly because of…”
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Characterization by microarray and meiotic segregation study of a der in a patient with infertility and normal phenotype by Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, EléOnore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, CéLine

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Characterization by microarray and meiotic segregation study of a der（lO）t（10;18） in a patient with infertility and normal phenotype by Stephan Kemeny Florence Brugnon Eleonore Eymard-Pierre Carole Goumy Laurent Janny Andrei Tchirkov Christine Francannet Philippe Vago Celine Pebrel-Richard

“…Dear Editor, Carriers of balanced chromosomal rearrangements, including reciprocal, robertsonian translocations, and inversions, have all genetic information…”
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome by Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas

“…Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability…”
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