未登录Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
Isidor, Bertrand; Ebstein, Frederic; Hurst, Anna; Vincent, Marie; Bader, Ingrid; Rudy, Natasha L.; Cogne, Benjamin; Mayr, Johannes; Brehm, Anja; Bupp, Caleb; Warren, Kathryn; Bacino, Carlos A.; Gerard, Amanda; Ranells, Judith D.; Metcalfe, Kay A.; van Bever, Yolande; Jiang, Yong-Hui; Mendelssohn, Bryce A.; Cope, Heidi; Rosenfeld, Jill A.; Blackburn, Patrick R.; Goodenberger, McKinsey L.; Kearney, Hutton M.; Kennedy, Joanna; Scurr, Ingrid; Szczaluba, Krzysztof; Ploski, Rafal; Martin, Anne de Saint; Alembik, Yves; Piton, Amelie; Bruel, Ange-Line; Thauvin-Robinet, Christel; Strong, Alanna; Diderich, Karin E. M.; Bourgeois, Dominique; Dahan, Karin; Vignard, Virginie; Bonneau, Dominique; Colin, Estelle; Barth, Magalie; Camby, Caroline; Baujat, Genevieve; Briceno, Ignacio; Gomez, Alberto; Deb, Wallid; Conrad, Solene; Besnard, Thomas; Bezieau, Stephane; Krueger, Elke; Kury, Sebastien; Stankiewicz, Pawel .png)
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收藏Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationZiegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna 分享 收藏 Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyTebani, Abdellah; Sudrie-Arnaud, Benedicte; Dabaj, Ivana; Torre, Stephanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Helene; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves; Baruteau, Julien; Arnoux, Jean-Baptiste; Brassier, Anais; Brehin, Anne-Claire; Busa, Tiffany; Cano, Aline; Chabrol, Brigitte; Coubes, Christine; Desguerre, Isabelle; Doco-Fenzy, Martine; Drenou, Bernard; Elcioglu, Nursel H.; Elsayed, Solaf; Fouilhoux, Alain; Poirsier, Celine; Goldenberg, Alice; Jouvencel, Philippe; Kuster, Alice; Labarthe, Francois; Lazaro, Leila; Pichard, Samia; Rivera, Serge; Roche, Sandrine; Roggerone, Stephanie; Roubertie, Agathe; Sigaudy, Sabine; Spodenkiewicz, Marta; Tardieu, Marine; Vanhulle, Catherine; Marret, Stephane; Bekri, Soumeya 分享 收藏 Pathogenic variants inTHSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysmElbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noe, Benoit; Alembik, Yves; Gaertner, Sebastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y.; Boileau, Catherine; Abifadel, Marianne 分享 收藏 分享 收藏 TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants ofRBM8ABoussion, Simon; Escande, Fabienne; Jourdain, Anne-Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Celine; Alembik, Yves; Attie-Bitach, Tania; Baujat, Genevieve; Bazin, Anne; Bonniere, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sarah; Guichet, Agnes; Jouk, Pierre-Simon; Loeuillet, Laurence; Mechler, Charlotte; Michot, Caroline; Pelluard, Fanny; Putoux, Audrey; Whalen, Sandra; Ghoumid, Jamal; Manouvrier-Hanu, Sylvie; Petit, Florence 分享 收藏 Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyLamb-shaffer综合征的遗传和临床谱的扩大，这是由于SOX5单倍体不足引起的神经发育障碍Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel 分享 收藏 CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsCDK5RAP2原发性小头畸形与下丘脑，视网膜和耳蜗发育缺陷有关Nasser, Hala; Vera, Liza; Elmaleh-Berges, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Heron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino, Marcella; Crepon, Sophie Guilmin; Kaguelidou, Florentia; Gressens, Pierre; Verloes, Alain; Rauch, Anita; El Ghouzzi, Vincent; Drunat, Severine; Passemard, Sandrine 分享 收藏 分享 收藏 HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyondHCN1突变谱: 从新生儿癫痫性脑病到良性癫痫及其他Marini, Carla; Porro, Alessandro; Rastetter, Agnes; Dalle, Carine; Rivolta, Ilaria; Bauer, Daniel; Oegema, Renske; Nava, Caroline; Parrini, Elena; Mei, Davide; Mercer, Catherine; Dhamija, Radhika; Chambers, Chelsea; Coubes, Christine; Thevenon, Julien; Kuentz, Paul; Julia, Sophie; Pasquier, Laurent; Dubourg, Christele; Carre, Wilfrid; Rosati, Anna; Melani, Federico; Pisano, Tiziana; Giardino, Maria; Innes, A. Micheil; Alembik, Yves; Scheidecker, Sophie; Santos, Manuela; Figueiroa, Sonia; Garrido, Cristina; Fusco, Carlo; Frattini, Daniele; Spagnoli, Carlotta; Binda, Anna; Granata, Tiziana; Ragona, Francesca; Freri, Elena; Franceschetti, Silvana; Canafoglia, Laura; Castellotti, Barbara; Gellera, Cinzia; Milanesi, Raffaella; Mancardi, Maria Margherita; Clark, Damien R.; Kok, Fernando; Helbig, Katherine L.; Ichikawa, Shoji; Sadler, Laurie; Neupauerova, Jana; Lassuthova, Petra; Sterbova, Katalin; Laridon, Annick; Brilstra, Eva; Koeleman, Bobby; Lemke, Johannes R.; Zara, Federico; Striano, Pasquale; Soblet, Julie; Smits, Guillaume; Deconinck, Nicolas; Barbuti, Andrea; DiFrancesco, Dario; LeGuern, Eric; Guerrini, Renzo; Santoro, Bina; Hamacher, Kay; Thiel, Gerhard; Moroni, Anna; DiFrancesco, Jacopo C.; Depienne, Christel 分享 收藏 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaCave, Helene; Caye, Aurelie; Ghedira, Nehla; Capri, Yline; Pouvreau, Nathalie; Fillot, Natacha; Trimouille, Aurelien; Vignal, Cedric; Fenneteau, Odile; Alembik, Yves; Alessandri, Jean-Luc; Blanchet, Patricia; Boute, Odile; Bouvagnet, Patrice; David, Albert; Coeslier, Anne Dieux; Doray, Berenice; Dulac, Olivier; Drouin-Garraud, Valerie; Gerard, Marion; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Lyonnet, Stanislas; Perrin, Laurence; Rio, Marlene; Roume, Joelle; Sauvion, Sylvie; Toutain, Annick; Vincent-Delorme, Catherine; Willems, Marjorie; Baumann, Clarisse; Verloes, Alain 分享 收藏 The expanding spectrum of COL2A1 gene variants IN136 patients with a skeletal dysplasia phenotypeBarat-Houari, Mouna; Dumont, Bruno; Fabre, Aurelie; Them, Frederic T. M.; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Severine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, Francois; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quelin, Chloe; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Genevieve; Cormier-Daire, Valerie; Le Merrer, Martine; Genevieve, David; Touitou, Isabelle 分享 收藏 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementPrasad, Megana K.; Geoffroy, Veronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stephanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michele; Lopez-Cazaux, Serena; Minoux, Maryline; Jung, Sophie; Obry, Frederic; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Beatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Berenice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; Molla, Muriel de la Dure; Alembik, Yves; Tardieu, Corinne; Clauss, Francois; Berdal, Ariane; Stoetzel, Corinne; Maniere, Marie Cecile; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaHuckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Veronique; Muller, Jean; Clauss, Francois; Prasad, Megana K.; Obry, Frederic; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerle, Joseph; Weickert, Jean-Luc; Dabovic, Branka Brukner; Rifkin, Daniel B.; Dheedene, Annelies; Boudin, Eveline; Caluseriu, Oana; Cholette, Marie-Claude; Mcleod, Ross; Antequera, Reynaldo; Gelle, Marie-Paule; Coeuriot, Jean-Louis; Jacquelin, Louis-Frederic; Bailleul-Forestier, Isabelle; Maniere, Marie-Cecile; Van Hul, Wim; Bertola, Debora; Dolle, Pascal; Verloes, Alain; Mortier, Geert; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingRedin, Claire; Gerard, Benedicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angelique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaetan; El-Chehadeh, Salima; Le Gras, Stephanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michael; Geoffroy, Veronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Helene; Doray, Berenice; Delrue, Marie-Ange; Drouin-Garraud, Valerie; Flori, Elisabeth; Fradin, Melanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michele; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amelie 分享 收藏 分享 收藏 Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4CCharcot-marie-tooth 4C的临床和电生理特征Yger, Marion; Stojkovic, Tanya; Tardieu, Sandrine; Maisonobe, Thierry; Brice, Alexis; Echaniz-Laguna, Andoni; Alembik, Yves; Girard, Samantha; Cazeneuve, Cecile; LeGuern, Eric; Dubourg, Odile 分享 收藏 分享 收藏 分享 收藏 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeRaux, Gregory; Bumsel, Emilie; Hecketsweiler, Bernadette; van Amelsvoort, Therese; Zinkstok, Janneke; Manouvrier-Hanu, Sylvie; Fantini, Carole; Breviere, Georges-Marie M.; Di Rosa, Gabriella; Pustorino, Giuseppina; Vogels, Annick; Swillen, Ann; Legallic, Solenn; Bou, Jacqueline; Opolczynski, Gaelle; Drouin-Garraud, Valerie; Lemarchand, Marie; Philip, Nicole; Gerard-Desplanches, Aude; Carlier, Michele; Philippe, Anne; Nolen, Marie Christine; Heron, Delphine; Sarda, Pierre; Lacombe, Didier; Coizet, Cyril; Alembik, Yves; Layet, Valerie; Afenjar, Alexandra; Hannequin, Didier; Demily, Caroline; Petit, Michel; Thibaut, Florence; Frebourg, Thierry; Campion, Dominique 分享 收藏 
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