未登录 Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome Courraud, Jeremie; Engel, Camille; Quartier, Angelique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amelie 分享 收藏
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan 分享 收藏
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients BRAT1-related疾病: 97例患者的表型谱和表型-基因型相关性 Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette 分享 收藏
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M. R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O'Donnell-Luria, Anne; Mau-Them, Frederic Tran; Juven, Aurelien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Umanah, George K. Essien; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E. 分享 收藏
Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris 分享 收藏
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna 分享 收藏
ARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features 文章BUD13的选择性剪接决定了具有脂肪营养不良和早衰症特征的发育障碍的严重程度 Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli-Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer-Zirnsak, Bjoern 分享 收藏
Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle 分享 收藏
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells Harhouri, Karim; Cau, Pierre; Casey, Frank; Guedenon, Koffi Mawuse; Doubaj, Yassamine; Van Maldergem, Lionel; Mejia-Baltodano, Gerardo; Bartoli, Catherine; De Sandre-Giovannoli, Annachiara; Levy, Nicolas 分享 收藏
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts 胎儿临床外显子组测序的实施: 前瞻性和回顾性队列的比较 Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle 分享 收藏
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients Pilz, Robert; Opalka, Lukas; Majcher, Adam; Grimm, Elisabeth; Van Maldergem, Lionel; Mihalceanu, Silvia; Schaekel, Knut; Enk, Alexander; Aubin, Francois; Bursztejn, Anne-Claire; Brischoux-Boucher, Elise; Fischer, Judith; Sandhoff, Roger 分享 收藏
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020) Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra 分享 收藏
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus Melo, Uira Souto; Piard, Juliette; Fischer-Zirnsak, Bjorn; Klever, Marius-Konstantin; Schopflin, Robert; Mensah, Martin Atta; Holtgrewe, Manuel; Arbez-Gindre, Francine; Martin, Alain; Guigue, Virginie; Gaillard, Dominique; Landais, Emilie; Roze, Virginie; Kremer, Valerie; Ramanah, Rajeev; Cabrol, Christelle; Harms, Frederike L.; Kornak, Uwe; Spielmann, Malte; Mundlos, Stefan; Van Maldergem, Lionel 分享 收藏
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome Tovy, Ayala; Rosas, Carina; Gaikwad, Amos S.; Medrano, Geraldo; Zhang, Linda; Reyes, Jaime M.; Huang, Yung-Hsin; Arakawa, Tastuhiko; Kurtz, Kristen; Conneely, Shannon E.; Guzman, Anna G.; Aguilar, Rogelio; Gao, Anne; Chen, Chun-Wei; Kim, Jean J.; Carter, Melissa T.; Lasa-Aranzasti, Amaia; Valenzuela, Irene; Van Maldergem, Lionel; Brunetti, Lorenzo; Hicks, M. John; Marcogliese, Andrea N.; Goodell, Margaret A.; Rau, Rachel E. 分享 收藏
Biallelic KDSR mutations mitigate the formation of novel keto-type ceramides in human stratum corneum Pilz, Robert; Opalka, Lukas; Majcher, Adam; Grimm, Elisabeth; Van Maldergem, Lionel; Aubin, Francois; Bursztejn, Anne-Claire; Brischoux-Boucher, Elise; Fischer, Judith; Sandhoff, Roger 分享 收藏
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 未诊断的多发性先天性关节畸形的表型谱和基因组学 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD Osorio, Joana Maria Almeida; Rodriguez-Herreros, Borja; Romascano, David; Junod, Vincent; Habegger, Aline; Pain, Aurelie; Richetin, Sonia; Yu, Paola; Isidor, Bertrand; Van Maldergem, Lionel; Pons, Linda; Manificat, Sabine; Chabane, Nadia; Gygax, Marine Jequier; Maillard, Anne Manuela 分享 收藏
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy 80例复杂心脏畸形和/或异位胎儿的下一代测序 Liu, Hui; Giguet-Valard, Anna-Gaelle; Simonet, Thomas; Szenker-Ravi, Emmanuelle; Lambert, Laetitia; Vincent-Delorme, Catherine; Scheidecker, Sophie; Fradin, Melanie; Morice-Picard, Fanny; Naudion, Sophie; Ciorna-Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierre-Simon; Francannet, Christine; Petit, Florence; Moutton, Sebastien; Lehalle, Daphne; Chassaing, Nicolas; El Zein, Loubna; Bazin, Anne; Beneteau, Claire; Attie-Bitach, Tania; Hanu, Sylvie M.; Brechard, Marie-Pierre; Chiesa, Jean; Pasquier, Laurent; Rooryck-Thambo, Caroline; Van Maldergem, Lionel; Cabrol, Christelle; El Chehadeh, Salima; Vasiljevic, Alexandre; Isidor, Bertrand; Abel, Carine; Thevenon, Julien; Di Filippo, Sylvie; Vigouroux-Castera, Adeline; Attia, Jocelyne; Quelin, Chloe; Odent, Sylvie; Piard, Juliette; Giuliano, Fabienne; Putoux, Audrey; Khau Van Kien, Philippe; Yardin, Catherine; Touraine, Renaud; Reversade, Bruno; Bouvagnet, Patrice 分享 收藏
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