未登录Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Jeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick .png)
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收藏Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsThomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stephane; Leheup, Bruno; Genevieve, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylene; Becker, Aurelie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaelle; Devillard, Francoise; Schaefer, Elise; Baer, Sarah; Piton, Amelie; Gerard, Benedicte; Vincent, Marie; Nizon, Mathilde; Cogne, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frederic; Alessandri, Jean-Luc; Lebrun, Marine; Quelin, Chloe; Odent, Sylvie; Dubourg, Christele; David, Veronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Elise; Afenjar, Alexandra; Julia, Sophie; Bieth, Eric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, Francois; Nicolas, Gael; Charbonnier, Camille; Martin, Anne De Saint; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valerie; Oussalah, Abderrahim; Pourie, Carine; Lambert, Laetitia; Bonnet, Celine 分享 收藏 Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective studyCharpie, Maelle; Brunelle, Perrine; Baujat, Genevieve; Michot, Caroline; Van Gils, Julien; Leheup, Bruno; Schaefer, Elise; Koumakis, Eugenie; Pejin, Zagorka; Pinto, Graziella; Monnot, Sophie; Cormier-Daire, Valerie 分享 收藏 Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective studyRavel, Jean-Marie; Renaud, Mathilde; Muller, Jean; Becker, Aurelie; Renard, Emeline; Remen, Thomas; Lefort, Genevieve; Dexheimer, Mylene; Jonveaux, Philippe; Leheup, Bruno; Bonnet, Celine; Lambert, Laetitia 分享 收藏 The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation SequencingLevaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frederic; Jager, Jessica Amsellem; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; de la Perriere, Aude Brac; Djellas, Yasmine Braik; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylene; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurelie; Doye, Emilie; Fradin, Melanie; Gaudilliere, Melanie; Gatelais, Frederique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloe; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stephanie; Teinturier, Cecile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Regis 分享 收藏 Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment人类脑组织和类器官的区域定义的蛋白质组学图谱揭示了神经发育的保守分子模块Melliou, Sofia; Sangster, Kevin T.; Kao, Jennifer; Zarrei, Mehdi; Lam, K. H. Brian; Howe, Jennifer; Papaioannou, Michail-Dimitrios; Tsang, Queenie P. L.; Borhani, Okty Abbasi; Sajid, Rifat Shahriar; Bonnet, Celine; Leheup, Bruno; Shannon, Patrick; Scherer, Stephen W.; Stavropoulos, Dimitri James; Djuric, Ugljesa; Diamandis, Phedias 分享 收藏 分享 收藏 Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study预测性基因检测对遗传性心脏病的社会心理影响: PREDICT研究Bordet, Celine; Brice, Sandrine; Maupain, Carole; Gandjbakhch, Estelle; Isidor, Bertrand; Palmyre, Aurelien; Moerman, Alexandre; Toutain, Annick; Akloul, Linda; Brehin, Anne-Claire; Sawka, Caroline; Rooryck, Caroline; Schaefer, Elise; Nguyen, Karine; Deguine, Delphine Dupin; Rouzier, Cecile; Billy, Gipsy; Sene, Krystelle; Denjoy, Isabelle; Leheup, Bruno; Planes, Marc; Mazzella, Jean-Michael; Staraci, Stephanie; Hebert, Melanie; Le Boette, Elsa; Michon, Claire-Cecile; Babonneau, Marie-Lise; Curjol, Angelique; Bekhechi, Amine; Mansouri, Rafik; Raji, Ibticem; Pruny, Jean-Francois; Fressart, Veronique; Ader, Flavie; Richard, Pascale; du Montcel, Sophie Tezenas; Gargiulo, Marcela; Charron, Philippe 分享 收藏 Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability马法样习惯性和智力障碍患者染色质重塑相关基因的从头变异过多Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sebastien; Lecoquierre, Francois; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard, Fanny; Van-Gils, Julien; Munnich, Arnold; Lyonnet, Stanislas; Cormier-Daire, Valerie; Baujat, Genevieve; Holder, Muriel; Petit, Florence; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Lopez, Gipsy; Genevieve, David; Collignon, Patrick; Martin-Coignard, Dominique; Jacquette, Aurelia; Perrin, Laurence; Putoux, Audrey; Sarrazin, Elisabeth; Amarof, Khadija; Missotte, Isabelle; Coubes, Christine; Jagadeesh, Sujatha; Lapi, Elisabetta; Demurger, Florence; Goldenberg, Alice; Doco-Fenzy, Martine; Mignot, Cyril; Heron, Delphine; Jean-Marcais, Nolwenn; Masurel, Alice; El Chehadeh, Salima; Marle, Nathalie; Huet, Frederic; Binquet, Christine; Collod-Beroud, Gwenaelle; Arnaud, Pauline; Hanna, Nadine; Boileau, Catherine; Jondeau, Guillaume; Olaso, Robert; Lechner, Doris; Poe, Charlotte; Assoum, Mirna; Carmignac, Virginie; Duplomb, Laurence; Tran Mau-Them, Frederic; Philippe, Christophe; Vitobello, Antonio; Bruel, Ange-Line; Boland, Anne; Deleuze, Jean-Francois; Thauvin-Robinet, Christel; Riviere, Jean-Baptiste; O'Roak, Brian J.; Faivre, Laurence 分享 收藏 Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD致病性变异intnrc6引起一种遗传性疾病，其特征是发育迟缓/智力障碍和一系列神经行为表型，包括自闭症和多动症Granadillo, Jorge Luis; P.A. Stegmann, Alexander; Guo, Hui; Xia, Kun; Angle, Brad; Bontempo, Kelly; Ranells, Judith D.; Newkirk, Patricia; Costin, Carrie; Viront, Joleen; Stumpel, Constanze T.; Sinnema, Margje; Panis, Bianca; Pfundt, Rolph; Krapels, Ingrid P. C.; Klaassens, Merel; Nicolai, Joost; Li, Jinliang; Jiang, Yuwu; Marco, Elysa; Canton, Ana; Latronico, Ana Claudia; Montenegro, Luciana; Leheup, Bruno; Bonnet, Celine; M. Amudhavalli, Shivarajan; Lawson, Caitlin E.; McWalter, Kirsty; Telegrafi, Aida; Pearson, Richard; Kvarnung, Malin; Wang, Xia; Bi, Weimin; Rosenfeld, Jill Anne; Shinawi, Marwan 分享 收藏 Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsMargot, Henri; Boursier, Guilaine; Duflos, Claire; Sanchez, Elodie; Amiel, Jeanne; Andrau, Jean-Christophe; Arpin, Stephanie; Brischoux-Boucher, Elise; Boute, Odile; Burglen, Lydie; Caille, Charlotte; Capri, Yline; Collignon, Patrick; Conrad, Solene; Cormier-Daire, Valerie; Delplancq, Geoffroy; Dieterich, Klaus; Dollfus, Helene; Fradin, Melanie; Faivre, Laurence; Fernandes, Helder; Francannet, Christine; Gatinois, Vincent; Gerard, Marion; Goldenberg, Alice; Ghoumid, Jamal; Grotto, Sarah; Guerrot, Anne-Marie; Guichet, Agnes; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Khau Van Kien, Philippe; Legendre, Marine; Le Quan Sang, K. H.; Leheup, Bruno; Lyonnet, Stanislas; Magry, Virginie; Manouvrier, Sylvie; Martin, Dominique; Morel, Godelieve; Munnich, Arnold; Naudion, Sophie; Odent, Sylvie; Perrin, Laurence; Petit, Florence; Philip, Nicole; Rio, Marlene; Robbe, Julie; Rossi, Massimiliano; Sarrazin, Elisabeth; Toutain, Annick; Van Gils, Julien; Vera, Gabriella; Verloes, Alain; Weber, Sacha; Whalen, Sandra; Sanlaville, Damien; Lacombe, Didier; Aladjidi, Nathalie; Genevieve, David 分享 收藏 Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Arnaud, Pauline; Hanna, Nadine; Benarroch, Louise; Aubart, Melodie; Bal, Laurence; Bouvagnet, Patrice; Busa, Tiffany; Dulac, Yves; Dupuis-Girod, Sophie; Edouard, Thomas; Faivre, Laurence; Gouya, Laurent; Lacombe, Didier; Langeois, Maud; Leheup, Bruno; Milleron, Olivier; Naudion, Sophie; Odent, Sylvie; Tchitchinadze, Maria; Ropers, Jacques; Jondeau, Guillaume; Boileau, Catherine 分享 收藏 分享 收藏 Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward DysimmunitySloboda, Natacha; Sorlin, Arthur; Valduga, Mylene; Beri-Dexheimer, Mylene; Bilbault, Claire; Fouyssac, Fanny; Becker, Aurelie; Lambert, Laetitia; Bonnet, Celine; Leheup, Bruno 分享 收藏 Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathwayRenard, Emeline; Chery, Celine; Oussalah, Abderrahim; Josse, Thomas; Perrin, Pascal; Tramoy, Denise; Voirin, Jimmy; Klein, Olivier; Leheup, Bruno; Feillet, Francois; Gueant-Rodriguez, Rosa-Maria; Gueant, Jean-Louis 分享 收藏 分享 收藏 Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features进一步描述59名法国男性患者的MECP2重复综合征表型，特别关注形态学和神经学特征Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima 分享 收藏 Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndromeRenaux-Petel, Mariette; Charbonnier, Francoise; Thery, Jean-Christophe; Fermey, Pierre; Lienard, Gwendoline; Bou, Jacqueline; Coutant, Sophie; Vezain, Myriam; Kasper, Edwige; Fourneaux, Steeve; Manase, Sandrine; Blanluet, Maud; Leheup, Bruno; Mansuy, Ludovic; Champigneulle, Jacqueline; Chappe, Celine; Longy, Michel; Sevenet, Nicolas; Bressac-de Paillerets, Brigitte; Guerrini-Rousseau, Lea; Brugieres, Laurence; Caron, Olivier; Sabourin, Jean-Christophe; Tournier, Isabelle; Baert-Desurmont, Stephanie; Frebourg, Thierry; Bougeard, Gaelle 分享 收藏 Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromeArnaud, Pauline; Hanna, Nadine; Aubart, Melodie; Leheup, Bruno; Dupuis-Girod, Sophie; Naudion, Sophie; Lacombe, Didier; Milleron, Olivier; Odent, Sylvie; Faivre, Laurence; Bal, Laurence; Edouard, Thomas; Collod-Beroud, Gwenaelle; Langeois, Maud; Spentchian, Myrtille; Gouya, Laurent; Jondeau, Guillaume; Boileau, Catherine 分享 收藏 NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extraadrenal defectsRoucher-Boulez, Florence; Mallet-Motak, Delphine; Samara-Boustani, Dinane; Jilani, Houweyda; Ladjouze, Asmahane; Souchon, Pierre-Francois; Simon, Dominique; Nivot, Sylvie; Heinrichs, Claudine; Ronze, Maryline; Bertagna, Xavier; Groisne, Laure; Leheup, Bruno; Naud-Saudreau, Catherine; Blondin, Gilles; Lefevre, Christine; Lemarchand, Laetitia; Morel, Yves 分享 收藏 
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