Search Results - "Herve, Berenice"

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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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases by Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien

“…Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare…”
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Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity? by Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Bernard, Valérie, Karila, Daphné, Jali, Eva, Brac de la Perrière, Aude, Grouthier, Virginie, Jonard-Catteau, Sophie, Touraine, Philippe, Fouveaut, Corinne, Plu-Bureau, Geneviève, Michel Dupont, Jean, Bachelot, Anne, Christin-Maitre, Sophie, Bienvenu, Thierry

“…•Most heterozygous GDF9 missense variants are of uncertain significance.•POI due to pathogenic GDF9 variants is a recessive genetic disorder.•Few heterozygous…”
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Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology by Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Chakhtoura, Zeina, Courtillot, Carine, Bachelot, Anne, Karila, Daphné, Renard, Céline, Grouthier, Virginie, Croix, Stanislas Mulot, Bernard, Valérie, Fouveaut, Corinne, Perrière, Aude Brac, Jonard‐Catteau, Sophie, Touraine, Philippe, Plu‐Bureau, Geneviève, Dupont, Jean Michel, Christin‐Maitre, Sophie, Bienvenu, Thierry

“…Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal…”
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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France by Hureaux, Marguerite, Guterman, Sarah, Hervé, Bérénice, Till, Marianne, Jaillard, Sylvie, Redon, Sylvie, Valduga, Myléne, Coutton, Charles, Missirian, Chantal, Prieur, Fabienne, Simon‐Bouy, Brigitte, Beneteau, Claire, Kuentz, Paul, Rooryck, Caroline, Gruchy, Nicolas, Marle, Nathalie, Plutino, Morgane, Tosca, Lucie, Dupont, Celine, Puechberty, Jacques, Schluth‐Bolard, Caroline, Salomon, Laurent, Sanlaville, Damien, Malan, Valérie, Vialard, François

“…Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the…”
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A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report by Bellil, Hela, Herve, Bérenice, Herzog, Elodie, Ayoubi, Jean-Marc, Vialard, François, Poulain, Marine

“…Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies…”
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First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review by Guterman, Sarah, Hervé, Bérénice, Rivière, Julie, Fauvert, Delphine, Clement, Patrice, Vialard, François

“…Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features…”
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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review by Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

“…Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been…”
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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling by Bouassida, Malek, Molina‐Gomes, Denise, Koraichi, Fairouz, Hervé, Bérénice, Lhuilier, Morgane, Duvillier, Clémence, Le Gall, Jessica, Gauthier‐Villars, Marion, Serazin, Valérie, Quibel, Thibaud, Dard, Rodolphe, Vialard, François

“…Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome…”
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series by 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

“…Objective Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and…”
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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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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype by Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, de Villartay, Jean-Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre-François, Agadr, Aomar, Abilkassem, Rachid, Elalloussi, Mustapha, Verloes, Alain, Doco-Fenzy, Martine

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Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations by Bellil, Hela, Molina-Gomes, Denise, Quibel, Thibaud, Roy, Sophie, Dard, Rodolphe, Vialard, François, Herve, Bérénice

“…In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of…”
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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review by Guterman, Sarah, Beneteau, Claire, Redon, Sylvia, Dupont, Céline, Missirian, Chantal, Jaeger, Pauline, Herve, Berenice, Jacquin, Clémence, Douet‐Guilbert, Nathalie, Till, Marianne, Tabet, Anne‐Claude, Moradkhani, Kamran, Malan, Valérie, Doco‐Fenzy, Martine, Vialard, François

“…Objective/Method 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features,…”
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Effects of the implementation of second-line prenatal cell-free DNA testing on termination of pregnancy in a French perinatal network by Duvillier, Clémence, Dard, Rodolphe, Hervé, Bérénice, Cohen, Camille, Vialard, François, Quibel, Thibaud

“…To evaluate the impact of implementing cell-free DNA (cfDNA) testing on gestational age (GA) at termination of pregnancy in a French perinatal network. We…”
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Are de novo rea(21;21) chromosomes really de novo? by Hervé, Bérénice, Quibel, Thibaud, Taieb, Stéphane, Ruiz, Mireille, Molina‐Gomes, Denise, Vialard, François

“…Key Clinical Message We report a rare case of recurrent trisomy 21 caused by an isochromosome 21q and what is very likely to be maternal germ‐line cell…”
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series by 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

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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype by Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, Villartay, Jean‐Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre‐François, Agadr, Aomar, Abilkassem, Rachid, Elalloussi, Mustapha, Verloes, Alain, Doco‐Fenzy, Martine

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies: Prevalence of recurrent pathogenic copy number in prenatal population 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

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Physiopathologie des aneuploïdies : conséquences du déséquilibre chromosomique sur l’organisation nucléaire et l’expression globale du génome by Hervé, Bérénice, Coussement, Aurélie, Guilbert, Thomas, Dumont, Florent, Jacques, Sébastien, Cuisset, Laurence, Chicard, Mathieu, Bourdoncle, Pierre, Letourneur, Franck, Choiset, Agnès, Dupont, Jean-Michel

“…Dans le noyau interphasique, la chromatine est organisée en territoires chromosomiques (TC) [1]. Le lien entre cette organisation et la régulation de…”
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