Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
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
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
Get full text
Journal Article
Early Telomere Shortening and Genomic Instability in Tubo-Ovarian Preneoplastic Lesions
CHENE, Gautier, TCHIRKOV, Andrei, PIERRE-EYMARD, Eleonore, DAUPLAT, Jacques, RAOELFILS, Ines, CAYRE, Anne, WATKIN, Emmanuel, VAGO, Philippe, PENAULT-LLORCA, Frederique
Published in Clinical cancer research (01.06.2013)
Published in Clinical cancer research (01.06.2013)
Get full text
Journal Article
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
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
Published in European journal of human genetics : EJHG (01.03.2014)
Published in European journal of human genetics : EJHG (01.03.2014)
Get full text
Journal Article
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay
Pebrel-Richard, Celine, Rouzade, Charles, Kemeny, Stephan, Eymard-Pierre, Eleonore, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Goumy, Carole, Vago, Philippe
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
Get full text
Journal Article
Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype
Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline
Published in Asian journal of andrology (01.01.2017)
Published in Asian journal of andrology (01.01.2017)
Get full text
Journal Article
THE RIGHT TO A CHROMOSOMICALLY PERFECT CHILD
Vago, Philippe
Published in Journal international de bioethique et d'ethique des sciences (01.07.2015)
Get more information
Published in Journal international de bioethique et d'ethique des sciences (01.07.2015)
Journal Article
THE RIGHT TO A CHROMOSOMICALLY PERFECT CHILD
Vago, Philippe
Published in Journal international de bioéthique et d'éthique des sciences (01.07.2015)
Get full text
Published in Journal international de bioéthique et d'éthique des sciences (01.07.2015)
Journal Article
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?
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
Published in Human molecular genetics (15.08.2022)
Published in Human molecular genetics (15.08.2022)
Get full text
Journal Article
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Allach El Khattabi, Laïla, Heide, Solveig, Caberg, Jean-Hubert, Andrieux, Joris, Doco Fenzy, Martine, Vincent-Delorme, Caroline, Callier, Patrick, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Boute-Benejean, Odile, Cordier, Marie Pierre, Faivre, Laurence, Francannet, Christine, Gerard, Marion, Goldenberg, Alice, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Moncla, Anne, Le Meur, Nathalie, Mathieu-Dramard, Michèle, Plessis, Ghislaine, Lesca, Gaetan, Rossi, Massimiliano, Edery, Patrick, Delahaye-Duriez, Andrée, De Pontual, Loïc, Tabet, Anne Claude, Lebbar, Aziza, Suiro, Lesley, Ioos, Christine, Natiq, Abdelhafid, Chafai Elalaoui, Siham, Missirian, Chantal, Receveur, Aline, François-Fiquet, Caroline, Garnier, Pascal, Yardin, Catherine, Laroche, Cécile, Vago, Philippe, Sanlaville, Damien, Dupont, Jean Michel, Benzacken, Brigitte, Pipiras, Eva
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
Get full text
Journal Article
Web Resource
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?
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
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
Get full text
Journal Article
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells
Kemeny, Stephan, Tatout, Christophe, Salaun, Gaelle, Pebrel-Richard, Céline, Goumy, Carole, Ollier, Natasha, Maurin, Eugenie, Pereira, Bruno, Vago, Philippe, Gouas, Laetitia
Published in Chromosoma (01.06.2018)
Published in Chromosoma (01.06.2018)
Get full text
Journal Article
TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer
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
Published in Oncotarget (29.09.2017)
Published in Oncotarget (29.09.2017)
Get full text
Journal Article
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole
Published in European journal of medical genetics (01.09.2021)
Published in European journal of medical genetics (01.09.2021)
Get full text
Journal Article
Chapitre 11. Le droit à un enfant chromosomiquement parfait
Vago, Philippe
Published in Journal international de bioéthique et d'éthique des sciences (14.09.2015)
Published in Journal international de bioéthique et d'éthique des sciences (14.09.2015)
Get full text
Journal Article
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage
Salaun, Gaëlle, Tchirkov, Andrei, Francannet, Christine, Pons-Rejraji, Hanae, Brugnon, Florence, Pebrel-Richard, Celine, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Goumy, Carole
Published in Reproductive biomedicine online (01.07.2018)
Published in Reproductive biomedicine online (01.07.2018)
Get full text
Journal Article
LE DROIT À UN ENFANT CHROMOSOMIQUEMENT PARFAIT
Vago, Philippe
Published in Journal International de Bioéthique et d'Éthique des Sciences (01.07.2015)
Get full text
Published in Journal International de Bioéthique et d'Éthique des Sciences (01.07.2015)
Journal Article
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage
Salaun, Gaëlle, Tchirkov, Andrei, Francannet, Christine, Pons, Hanae, Brugnon, Florence, Pebrel-Richard, Celine, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Goumy, Carole
Published in Reproductive biomedicine online (01.07.2018)
Published in Reproductive biomedicine online (01.07.2018)
Get full text
Journal Article
Telomere status in chronic lymphocytic leukemia with TP53 disruption
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
Published in Oncotarget (30.08.2016)
Published in Oncotarget (30.08.2016)
Get full text
Journal Article