A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation von Harbuz, Radu, Zouari, Raoudha, Pierre, Virginie, Ben Khelifa, Mariem, Kharouf, Mahmoud, Coutton, Charles, Merdassi, Ghaya, Abada, Farid, Escoffier, Jessica, Nikas, Yorgos, Vialard, François, Koscinski, Isabelle, Triki, Chema, Sermondade, Nathalie, Schweitzer, Thérèse, Zhioua, Amel, Zhioua, Fethi, Latrous, Habib, Halouani, Lazhar, Ouafi, Marrakchi, Makni, Mounir, Jouk, Pierre-Simon, Sèle, Bernard, Hennebicq, Sylviane, Satre, Véronique, Viville, Stéphane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry von Del Llano, Edgar, Perrin, Aurore, Morel, Frédéric, Devillard, Françoise, Harbuz, Radu, Satre, Véronique, Amblard, Florence, Bidart, Marie, Hennebicq, Sylviane, Brouillet, Sophie, Ray, Pierre F, Coutton, Charles, Martinez, Guillaume

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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits von Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH von Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine

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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome von Harbuz, Radu, Lespinasse, James, Boulet, Stéphanie, Francannet, Christine, Creveaux, Isabelle, Benkhelifa, Mariem, Jouk, Pierre-Simon, Lunardi, Joël, Ray, Pierre F.

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An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome von Coudert, Alicia, Thevenon, Julien, Testard, Quentin, Satre, Véronique, Harbuz, Radu, Bouvagnet, Patrice, Rabattu, Pierre-Yves, Coutton, Charles, Le Tanno, Pauline

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A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis von Ben Khelifa, Mariem, Zouari, Raoudha, Harbuz, Radu, Halouani, Lazhar, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) von Hyon, Capucine, Chantot-Bastaraud, Sandra, Harbuz, Radu, Bhouri, Rakia, Perrot, Nicolas, Peycelon, Matthieu, Sibony, Mathilde, Rojo, Sandra, Piguel, Xavier, Bilan, Frederic, Gilbert-Dussardier, Brigitte, Kitzis, Alain, McElreavey, Ken, Siffroi, Jean-Pierre, Bashamboo, Anu

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases von Jedraszak, Guillaume, Jobic, Florence, Receveur, Aline, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte, Tiffany, Busa, Missirian, Chantal, Willems, Marjolaine, Odent, Sylvie, Lucas, Josette, Dubourg, Christele, Schaefer, Elise, Scheidecker, Sophie, Lespinasse, James, Goldenberg, Alice, Guerrot, Anne‐Marie, Joly‐Helas, Géraldine, Chambon, Pascal, Le Caignec, Cédric, David, Albert, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Amblard, Florence, Harbuz, Radu, Sanlaville, Damien, Till, Marianne, Vincent‐Delorme, Catherine, Colson, Cindy, Andrieux, Joris, Naudion, Sophie, Toutain, Jérome, Rooryck, Caroline, Fréminville, Bénédicte, Prieur, Fabienne, Daire, Valérie Cormier, Amram, Daniel, Kleinfinger, Pascale, Schulze, Matthias B., Raabe‐Meyer, Gisela, Courage, Carolina, Lemke, Johannes, Stefanou, Eunice G., Loretta, Thomaidis, Emmanouil, Manolakos, Tzeli, Sophia Kitsiou, Sodowska, Henryka, Anderson, Jasen, Nandini, Adayapalam, Copin, Henri, Garçon, Loïc, Liehr, Thomas, Morin, Gilles

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Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and el... von Poreau, Brice, Ramond, Francis, Harbuz, Radu, Satre, Véronique, Barro, Claire, Vettier, Claire, Adouard, Véronique, Thevenon, Julien, Jouk, Pierre‐Simon, Coutton, Charles, Touraine, Renaud, Dieterich, Klaus

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Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia von Ben Khelifa, Mariem, Coutton, Charles, Blum, Michael G.B., Abada, Farid, Harbuz, Radu, Zouari, Raoudha, Guichet, Agnès, May-Panloup, Pascale, Mitchell, Valérie, Rollet, Jacques, Triki, Chema, Merdassi, Ghaya, Vialard, François, Koscinski, Isabelle, Viville, Stéphane, Keskes, Leila, Soulie, Jean Pierre, Rives, Nathalie, Dorphin, Béatrice, Lestrade, Florence, Hesters, Laeticia, Poirot, Catherine, Benzacken, Brigitte, Jouk, Pierre-Simon, Satre, Véronique, Hennebicq, Sylviane, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability von Naoufal, Rania, Legendre, Marine, Couet, Dominique, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Bilan, Frederic, Harbuz, Radu

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The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population von Dieterich, Klaus, Zouari, Raoudha, Harbuz, Radu, Vialard, François, Martinez, Delphine, Bellayou, Hanane, Prisant, Nadia, Zoghmar, Abdelali, Guichaoua, Marie Roberte, Koscinski, Isabelle, Kharouf, Mahmoud, Noruzinia, Mehrdad, Nadifi, Sellama, Sefiani, Abdelaziz, Lornage, Jacqueline, Zahi, Mohamed, Viville, Stéphane, Sèle, Bernard, Jouk, Pierre-Simon, Jacob, Marie-Christine, Escalier, Denise, Nikas, Yorgos, Hennebicq, Sylviane, Lunardi, Joël, Ray, Pierre F.

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Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction von Petre, Graciane, Lorès, Patrick, Sartelet, Hervé, Truffot, Aurélie, Poreau, Brice, Brandeis, Sandrine, Martinez, Guillaume, Satre, Véronique, Harbuz, Radu, Ray, Pierre F., Amblard, Florence, Devillard, Françoise, Vieville, Gaëlle, Berger, Francois, Jouk, Pierre‐Simon, Vaiman, Daniel, Touré, Aminata, Coutton, Charles, Bidart, Marie

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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 von 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

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Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resultin... von Harbuz, Radu, Bilan, Frédéric, Couet, Dominique, Charraud, Valérie, Kitzis, Alain, Gilbert-Dussardier, Brigitte

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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study von Gruchy, Nicolas, Blondeel, Eleonore, Le Meur, Nathalie, Joly-Hélas, Géraldine, Chambon, Pascal, Till, Marianne, Herbaux, Martine, Vigouroux-Castera, Adeline, Coussement, Aurélie, Lespinasse, James, Amblard, Florence, Jimenez Pocquet, Mélanie, Lebel-Roy, Camille, Carré-Pigeon, Frédérique, Flori, Elisabeth, Mugneret, Francine, Jaillard, Sylvie, Yardin, Catherine, Harbuz, Radu, Collonge-Rame, Marie-Agnès, Vago, Philippe, Valduga, Mylène, Leporrier, Nathalie, Vialard, François

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Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature von Lamotte, Anna, Martinez, Guillaume, Devillard, Françoise, Hograindleur, Jean-Pascal, Satre, Véronique, Coutton, Charles, Harbuz, Radu, Amblard, Florence, Lespinasse, James, Benchaib, Mehdi, Bessonnat, Julien, Brouillet, Sophie, Hennebicq, Sylviane

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A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis: A NEW AURKC MUTATION CAUSING MACROZOOSPERMIA von Ben Khelifa, Mariem, Zouari, Raoudha, Harbuz, Radu, Halouani, Lazhar, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

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Absent CNKSR 2 causes seizures and intellectual, attention, and language deficits von Vaags, Andrea K., Bowdin, Sarah, Smith, Mary‐Lou, Gilbert‐Dussardier, Brigitte, Brocke‐Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent‐Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.

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