Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia
Soler, Gwendoline, Ouedraogo, Zangbéwendé Guy, Goumy, Carole, Lebecque, Benjamin, Aspas Requena, Gaspar, Ravinet, Aurélie, Kanold, Justyna, Véronèse, Lauren, Tchirkov, Andrei
Published in Cancers (01.04.2023)
Published in Cancers (01.04.2023)
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Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination
Goumy, Carole, Ouedraogo, Zangbéwendé Guy, Bellemonte, Elodie, Eymard-Pierre, Eleonore, Soler, Gwendoline, Perthus, Isabelle, Pebrel-Richard, Céline, Gouas, Laetitia, Salaun, Gaëlle, Véronèse, Lauren, Laurichesse, Hélène, Darcha, Claude, Tchirkov, Andrei
Published in Diagnostics (Basel) (30.11.2023)
Published in Diagnostics (Basel) (30.11.2023)
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Journal Article
Prenatal diagnosis of the VACTERL association using routine ultrasound examination
Debost-Legrand, Anne, Goumy, Carole, Laurichesse-Delmas, Hélène, Déchelotte, Pierre, Perthus, Isabelle, Francannet, Christine, Lémery, Didier, Gallot, Denis
Published in Birth defects research. A Clinical and molecular teratology (01.10.2015)
Published in Birth defects research. A Clinical and molecular teratology (01.10.2015)
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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)
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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)
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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)
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Journal Article
Optical genome mapping for prenatal diagnosis: A prospective study
Goumy, Carole, Guy Ouedraogo, Zangbéwendé, Soler, Gwendoline, Eymard-Pierre, Eleonore, Laurichesse, Hélène, Delabaere, Amélie, Gallot, Denis, Bouchet, Pamela, Perthus, Isabelle, Pebrel-Richard, Céline, Gouas, Laetitia, Salaun, Gaëlle, Salse, Jérôme, Véronèse, Lauren, Tchirkov, Andrei
Published in Clinica chimica acta (01.11.2023)
Published in Clinica chimica acta (01.11.2023)
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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 (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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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)
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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor
Darcha, Claude, Laffargue, Fanny, Boutaud, Lucile, Gallot, Denis, Dauphin, Claire, Garcier, Jean Marc, Achaiaa, Amale, Nitschke, Patrick, Fourrage, Cécile, Goumy, Carole, Attie‐Bitach, Tania
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Lesieur‐Sebellin, Marion, Till, Marianne, Khau Van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐Claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent J., Malan, Valérie
Published in Prenatal diagnosis (01.01.2022)
Published in Prenatal diagnosis (01.01.2022)
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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)
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Journal Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Lesieur-Sebellin, Marion, Till, Marianne, Khau van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent, Malan, Valérie
Published in Prenatal diagnosis (01.01.2022)
Published in Prenatal diagnosis (01.01.2022)
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Journal Article
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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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)
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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)
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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?
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
Published in Prenatal diagnosis (01.10.2019)
Published in Prenatal diagnosis (01.10.2019)
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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
Stephan Kemeny Florence Brugnon Eleonore Eymard-Pierre Carole Goumy Laurent Janny Andrei Tchirkov Christine Francannet Philippe Vago Celine Pebrel-Richard
Published in 亚洲男性学杂志:英文版 (2017)
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Published in 亚洲男性学杂志:英文版 (2017)
Journal Article
Characterization by microarray and meiotic segregation study of a der 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)
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Published in Asian journal of andrology (01.01.2017)
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