Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 von Dodé, Catherine, Teixeira, Luis, Levilliers, Jacqueline, Fouveaut, Corinne, Bouchard, Philippe, Kottler, Marie-Laure, Lespinasse, James, Lienhardt-Roussie, Anne, Mathieu, Michèle, Moerman, Alexandre, Morgan, Graeme, Murat, Arnaud, Toublanc, Jean-Edmont, Wolczynski, Slawomir, Delpech, Marc, Petit, Christine, Young, Jacques, Hardelin, Jean-Pierre

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations von Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis

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A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes von Sarfati, Julie, Guiochon-Mantel, Anne, Rondard, Philippe, Arnulf, Isabelle, Garcia-Piñero, Alfons, Wolczynski, Slawomir, Brailly-Tabard, Sylvie, Bidet, Maud, Ramos-Arroyo, Maria, Mathieu, Michèle, Lienhardt-Roussie, Anne, Morgan, Graeme, Turki, Zinet, Bremont, Catherine, Lespinasse, James, Du Boullay, Hélène, Chabbert-Buffet, Nathalie, Jacquemont, Sébastien, Reach, Gérard, De Talence, Nicole, Tonella, Paolo, Conrad, Bernard, Despert, Francois, Delobel, Bruno, Brue, Thierry, Bouvattier, Claire, Cabrol, Sylvie, Pugeat, Michel, Murat, Arnaud, Bouchard, Philippe, Hardelin, Jean-Pierre, Dodé, Catherine, Young, Jacques

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Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis von Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d'Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders von Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration von Philibert, Pascal, Leprieur, Elodie, Zenaty, Delphine, Thibaud, Elisabeth, Polak, Michel, Frances, Anne-Marie, Lespinasse, James, Raingeard, Isabelle, Servant, Nadège, Audran, Françoise, Paris, Françoise, Sultan, Charles

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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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The Genetic Basis of the Pierre Robin Sequence von Jakobsen, Linda P., Knudsen, Mary A., Lespinasse, James, García Ayuso, Carmen, Ramos, Carmen, Fryns, Jean-Pierre, Bugge, Merete, Tommerup, Niels

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Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia von Bogliolo, Massimo, Bluteau, Dominique, Lespinasse, James, Pujol, Roser, Vasquez, Nadia, d'Enghien, Catherine Dubois, Stoppa-Lyonnet, Dominique, Leblanc, Thierry, Soulier, Jean, Surrallés, Jordi

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments von Leblond, Claire S, Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M, Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I Carina, Rappold, Gudrun A, Holt, Richard, Monaco, Anthony P, Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J, Boeckers, Tobias M, Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W, Rouleau, Guy A, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas

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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity von Maillard, A M, Ruef, A, Pizzagalli, F, Migliavacca, E, Hippolyte, L, Adaszewski, S, Dukart, J, Ferrari, C, Conus, P, Männik, K, Zazhytska, M, Siffredi, V, Maeder, P, Kutalik, Z, Kherif, F, Hadjikhani, N, Beckmann, J S, Reymond, A, Draganski, B, Jacquemont, S

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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study von Martin-Brevet, Sandra, Nielsen, Jared A., Maillard, Anne M., Richetin, Sonia, Jønch, Aia E., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bouquillon, Sonia, Brusco, Alfredo, Busa, Tiffany, Cordier, Marie-Pierre, David, Albert, Edery, Patrick, Fagerberg, Christina, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Jacquette, Aurélia, Jaillard, Sylvie, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Pilekær Sørensen, Kristina, Pinson, Lucile, Prieur, Fabienne, Rooryck-Thambo, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Ackerman, Sean, Anwar, Ayesha, Bowe, Alexandra, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Blaskey, Lisa, Burko, Jordan, Chang, Yishin, Cheong, Maxwell, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dempsey, Allison G., Earl, Rachel, Edgar, James, Fischbach, Gerald D., Fregeau, Brieana, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Golembski, Rachel, Greenup, Marion, Hines, Katherine, Jenkins, Julian, Jeremy, Rita J., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Laakman, Anna L., Lam, Peter, LaGuerre, Kevin, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., McNally Keehn, Rebecca, Moss, Timothy J., Nagarajan, Srikantan S., Paal, Andrea M., Packer, Alan, Paul, Brianna M., Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Gallagher, Anne Snow, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L.

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing von Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes von Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders von Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille

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Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication von Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry‐Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux‐Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne‐Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoît, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlène, Piard, Juliette, Putoux, Audrey, Rama, Mélanie, Roze‐Guillaumey, Virginie, Schluth‐Bolard, Caroline, Till, Marianne, Trouvé, Chloé, Vieville, Gaëlle, Rooryck, Caroline, Sanlaville, Damien, Chatron, Nicolas

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations von Peron, Angela, D'Arco, Felice, Aldinger, Kimberly A, Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A, Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F, Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M, Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M, Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J, Earl, Dawn L, Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J, Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D, Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J, Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S, Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M, Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M, Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B A, Guillemot, Francois, Dobyns, William B, Viskochil, David, Dias, Cristina

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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization von Brioude, Frederic, Netchine, Irène, Praz, Francoise, Le Jule, Marilyne, Calmel, Claire, Lacombe, Didier, Edery, Patrick, Catala, Martin, Odent, Sylvie, Isidor, Bertrand, Lyonnet, Stanislas, Sigaudy, Sabine, Leheup, Bruno, Audebert-Bellanger, Séverine, Burglen, Lydie, Giuliano, Fabienne, Alessandri, Jean-Luc, Cormier-Daire, Valérie, Laffargue, Fanny, Blesson, Sophie, Coupier, Isabelle, Lespinasse, James, Blanchet, Patricia, Boute, Odile, Baumann, Clarisse, Polak, Michel, Doray, Berenice, Verloes, Alain, Viot, Géraldine, Le Bouc, Yves, Rossignol, Sylvie

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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature von Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, Genevieve, David

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Effects of eight neuropsychiatric copy number variants on human brain structure von Modenato, Claudia, Kumar, Kuldeep, Moreau, Clara, Martin-Brevet, Sandra, Huguet, Guillaume, Schramm, Catherine, Jean-Louis, Martineau, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Douard, Elise, Thébault-Dagher, Fanny, Côté, Valérie, Charlebois, Audrey-Rose, Deguire, Florence, Maillard, Anne M., Rodriguez-Herreros, Borja, Pain, Aurèlie, Richetin, Sonia, Melie-Garcia, Lester, Kushan, Leila, Silva, Ana I., van den Bree, Marianne B. M., Linden, David E. J., Owen, Michael J., Hall, Jeremy, Lippé, Sarah, Chakravarty, Mallar, Bzdok, Danilo, Bearden, Carrie E., Draganski, Bogdan, Jacquemont, Sébastien

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