Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance
Chitayat, David, Sroka, Hana, Keating, Sarah, Colby, Randall S., Ryan, Greg, Toi, Ants, Blaser, Susan, Viero, Sandra, Devisme, Louise, Boute-Bénéjean, Odile, Manouvrier-Hanu, Sylvie, Mortier, Geert, Loeys, Bart, Rauch, Anita, Bitoun, Pierre
Published in American journal of medical genetics. Part A (15.06.2007)
Published in American journal of medical genetics. Part A (15.06.2007)
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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)
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot A, Kruisselbrink, Teresa M, Lanpher, Brendan C, Klee, Eric W, Fiala, Elise, Grange, Dorothy K, Meschino, Wendy S, Hiatt, Susan M, Cooper, Gregory M, Olivié, Hilde, Smith, Wendy E, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S, Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C, Pajusalu, Sander, Õunap, Katrin, Filiano, James J, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B, Hevner, Robert, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean-Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Decaestecker, Charles, Gaillard, Dominique, Goldenberg, Alice, Gonzales, Marie, Holder-Espinasse, Muriel, Jacquemont, Marie-Line, Lacombe, Didier, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Morin, Gilles, Pasquier, Laurent, Petit, Florence, Rio, Marlène, Smigiel, Robert, Thauvin-Robinet, Christel, Vasiljevic, Alexandre, Verloes, Alain, Malan, Valérie, Munnich, Arnold, de Pontual, Loïc, Vekemans, Michel, Lyonnet, Stanislas, Attié-Bitach, Tania, Amiel, Jeanne
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations
Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier
Published in Human reproduction (Oxford) (28.04.2020)
Published in Human reproduction (Oxford) (28.04.2020)
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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
Duijkers, Floor A., McDonald, Andrew, Janssens, Georges E., Lezzerini, Marco, Jongejan, Aldo, van Koningsbruggen, Silvana, Leeuwenburgh-Pronk, Wendela G., Wlodarski, Marcin W., Moutton, Sébastien, Tran-Mau-Them, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence, Monaghan, Kristin G., Smol, Thomas, Boute-Benejean, Odile, Ladda, Roger L., Sell, Susan L., Bruel, Ange-Line, Houtkooper, Riekelt H., MacInnes, Alyson W.
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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TRIT1 deficiency: Two novel patients with four novel variants
Smol, Thomas, Brunelle, Perrine, Caumes, Roseline, Boute-Benejean, Odile, Thuillier, Caroline, Figeac, Martin, Ait-Yahya, Emilie, Bonte, Fabrice, Mau-Them, Frederic Tran, Thauvin-Robinet, Christel, Faivre, Laurence, Roche-Lestienne, Catherine, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
Gordon, Christopher T, Petit, Florence, Oufadem, Myriam, Decaestecker, Charles, Jourdain, Anne-Sophie, Andrieux, Joris, Malan, Valérie, Alessandri, Jean-Luc, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Delobel, Bruno, Dieterich, Klaus, Gaillard, Dominique, Gonzales, Marie, Lacombe, Didier, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Mehta, Sarju G., Simonic, Ingrid, Munnich, Arnold, Vekemans, Michel, Porchet, Nicole, de Pontual, Loïc, Sarnacki, Sabine, Attie-Bitach, Tania, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne
Published in Journal of medical genetics (01.12.2012)
Published in Journal of medical genetics (01.12.2012)
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence
Published in Journal of medical genetics (01.07.2017)
Published in Journal of medical genetics (01.07.2017)
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Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
Ghoumid, Jamal, Petit, Florence, Boute-Benejean, Odile, Frenois, Frédéric, Cartigny, Maryse, Vanlerberghe, Clémence, Smol, Thomas, Caumes, Roseline, de Roux, Nicolas, Manouvrier-Hanu, Sylvie
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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TRIT1 deficiency: Two novel patients with four novel variants
Smol, Thomas, Brunelle, Perrine, Caumes, Roseline, Boute-Benejean, Odile, Thuillier, Caroline, Figeac, Martin, Ait-Yahya, Emilie, Bonte, Fabrice, Mau-Them, Frederic Tran, Thauvin-Robinet, Christel, Faivre, Laurence, Roche-Lestienne, Catherine, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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SAT-010 Non-Classic POR Deficiency as a Cause of Menstrual Disorders & Infertility
Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier R
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
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