未登录Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
Haim, David; Roux, Nathalie; Boutaud, Lucile; Verlin, Laure; Quelin, Chloe; Moncler, Candice; Bourgon, Nicolas; Achaiia, Amale; Roth, Philippe; Marijon, Pierre; Vanlieferinghen, Sarah; Thomas, Sophie; Attie-Bitach, Tania .png)
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收藏A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoidsGuguin, Justine; Chen, Ting-Yu; Cuinat, Silvestre; Besson, Alicia; Bertiaux, Eloise; Boutaud, Lucile; Ardito, Nolan; Murguiondo, Miren Imaz; Cabet, Sara; Hamel, Virginie; Thomas, Sophie; Pain, Bertrand; Edery, Patrick; Putoux, Audrey; Tang, Tang K.; Mazoyer, Sylvie; Delous, Marion 分享 收藏 Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medullaTessier, Aude; Roux, Nathalie; Boutaud, Lucile; Lunel, Elodie; Hakkakian, Leila; Parisot, Melanie; Garfa-Traore, Meriem; Ichkou, Amale; Elkhartoufi, Nadia; Bole, Christine; Nitschke, Patrick; Amiel, Jeanne; Martinovic, Jelena; Encha-Razavi, Ferechte; Attie-Bitach, Tania; Thomas, Sophie 分享 收藏 TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanDelalande, Jean Marie; Nagy, Nandor; McCann, Conor J.; Natarajan, Dipa; Cooper, Julie E.; Carreno, Gabriela; Dora, David; Campbell, Alison; Laurent, Nicole; Kemos, Polychronis; Thomas, Sophie; Alby, Caroline; Attie-Bitach, Tania; Lyonnet, Stanislas; Logan, Malcolm P.; Goldstein, Allan M.; Davey, Megan G.; Hofstra, Robert M. W.; Thapar, Nikhil; Burns, Alan J. 分享 收藏 Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingLe, Thuy-Linh; Sribudiani, Yunia; Dong, Xiaomin; Huber, Celine; Kois, Chelsea; Baujat, Genevieve; Gordon, Christopher T.; Mayne, Valerie; Galmiche, Louise; Serre, Valerie; Goudin, Nicolas; Zarhrate, Mohammed; Bole-Feysot, Christine; Masson, Cecile; Nitschke, Patrick; Verheijen, Frans W.; Pais, Lynn; Pelet, Anna; Sadedin, Simon; Pugh, John A.; Shur, Natasha; White, Susan M.; El Chehadeh, Salima; Christodoulou, John; Cormier-Daire, Valerie; Hofstra, R. M. W.; Lyonnet, Stanislas; Tan, Tiong Yang; Attie-Bitach, Tania; Kerstjens-Frederikse, Wilhelmina S.; Amiel, Jeanne; Thomas, Sophie 分享 收藏 分享 收藏 WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsCavallin, Mara; Rujano, Maria A.; Bednarek, Nathalie; Medina-Cano, Daniel; Gelot, Antoinette Bernabe; Drunat, Severine; Maillard, Camille; Garfa-Traore, Meriem; Bole, Christine; Nitschke, Patrick; Beneteau, Claire; Besnard, Thomas; Cogne, Benjamin; Eveillard, Marion; Kuster, Alice; Poirier, Karine; Verloes, Alain; Martinovic, Jelena; Bidat, Laurent; Rio, Marlene; Lyonnet, Stanislas; Reilly, M. Louise; Boddaert, Nathalie; Jenneson-Liver, Melanie; Motte, Jacques; Doco-Fenzy, Martine; Chelly, Jamel; Attie-Bitach, Tania; Simons, Matias; Cantagrel, Vincent; Passemard, Sandrine; Baffet, Alexandre; Thomas, Sophie; Bahi-Buisson, Nadia 分享 收藏 Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitriesBoeva, Valentina; Louis-Brennetot, Caroline; Peltier, Agathe; Durand, Simon; Pierre-Eugene, Cecile; Raynal, Virginie; Etchevers, Heather C.; Thomas, Sophie; Lermine, Alban; Daudigeos-Dubus, Estelle; Geoerger, Birgit; Orth, Martin F.; Gruenewald, Thomas G. P.; Diaz, Elise; Ducos, Bertrand; Surdez, Didier; Carcaboso, Angel M.; Medvedeva, Irina; Deller, Thomas; Combaret, Valerie; Lapouble, Eve; Pierron, Gaelle; Grossetete-Lalami, Sandrine; Baulande, Sylvain; Schleiermacher, Gudrun; Barillot, Emmanuel; Rohrer, Hermann; Delattre, Olivier; Janoueix-Lerosey, Isabelle 分享 收藏 Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsLaquerriere, Annie; Maillard, Camille; Cavallin, Mara; Chapon, Francoise; Marguet, Florent; Molin, Arnaud; Sigaudy, Sabine; Blouet, Marie; Benoist, Guillaume; Fernandez, Carla; Poirier, Karine; Chelly, Jamel; Thomas, Sophie; Bahi-Buisson, Nadia 分享 收藏 Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationGrampa, Valentina; Delous, Marion; Zaidan, Mohamad; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Remi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attie-Bitach, Tania; Jeanpierre, Cecile; Saunier, Sophie 分享 收藏 IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypePerrault, Isabelle; Halbritter, Jan; Porath, Jonathan D.; Gerard, Xavier; Braun, Daniela A.; Gee, Heon Yung; Fathy, Hanan M.; Saunier, Sophie; Cormier-Daire, Valerie; Thomas, Sophie; Attie-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P.; Lawson, Jennifer A.; Garfa-Traore, Meriem; Otto, Edgar A.; Bastin, Philippe; Caillaud, Catherine; Kaplan, Josseline; Rozet, Jean-Michel; Hildebrandt, Friedhelm 分享 收藏 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly SyndromeAlby, Caroline; Piquand, Kevin; Huber, Celine; Megarbane, Andre; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechte; Abi-Tayeh, Georges; Bessieres, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, Laszlo; Zombor, Melinda; Szabo, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschke, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Francoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valerie; Attie-Bitach, Tania; Thomas, Sophie 分享 收藏 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (vol 97, pg 311, 2015)Alby, Caroline; Piquand, Kevin; Huber, Celine; Megarbane, Andre; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechte; Abi-Tayeh, Georges; Bessieres, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, Laszlo; Zombor, Melinda; Szabo, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschke, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Francoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valerie; Attie-Bitach, Tania; Thomas, Sophie 分享 收藏 TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zoneTMEM231，在oroffaciodigital和Meckel综合征中突变，组织睫状过渡区Roberson, Elle C.; Dowdle, William E.; Ozanturk, Aysegul; Garcia-Gonzalo, Francesc R.; Li, Chunmei; Halbritter, Jan; Elkhartoufi, Nadia; Porath, Jonathan D.; Cope, Heidi; Ashley-Koch, Allison; Gregory, Simon; Thomas, Sophie; Sayer, John A.; Saunier, Sophie; Otto, Edgar A.; Katsanis, Nicholas; Davis, Erica E.; Attie-Bitach, Tania; Hildebrandt, Friedhelm; Leroux, Michel R.; Reiter, Jeremy F. 分享 收藏 Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesityThomas, Sophie; Cantagrel, Vincent; Mariani, Laura; Serre, Valerie; Lee, Ji-Eun; Elkhartoufi, Nadia; de Lonlay, Pascale; Desguerre, Isabelle; Munnich, Arnold; Boddaert, Nathalie; Lyonnet, Stanislas; Vekemans, Michel; Lisgo, Steven N.; Caspary, Tamara; Gleeson, Joseph; Attie-Bitach, Tania 分享 收藏 Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: Implications for Down syndromeMouton-Liger, Francois; Sahun, Ignasi; Collin, Thibault; Pereira, Patricia Lopes; Masini, Debora; Thomas, Sophie; Paly, Evelyne; Luilier, Sabrina; Meme, Sandra; Jouhault, Quentin; Bennai, Soumia; Beloeil, Jean-Claude; Bizot, Jean-Charles; Herault, Yann; Dierssen, Mara; Creau, Nicole 分享 收藏 分享 收藏 A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary CiliumThomas, Sophie; Wright, Kevin J.; Le Corre, Stephanie; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean-Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, Stanislas; Munnich, Arnold; Burglen, Lydie; Chassaing, Nicolas; Encha-Ravazi, Ferechte; Vekemans, Michel; Gleeson, Joseph G.; Valente, Enza Maria; Jackson, Peter K.; Drummond, Iain A.; Saunier, Sophie; Attie-Bitach, Tania 分享 收藏 分享 收藏 A vision and strategy for the virtual physiological human: 2012 update虚拟生理人的愿景和策略: 2012更新Hunter, Peter; Chapman, Tara; Coveney, Peter V.; de Bono, Bernard; Diaz, Vanessa; Fenner, John; Frangi, Alejandro F.; Harris, Peter; Hose, Rod; Kohl, Peter; Lawford, Pat; McCormack, Keith; Mendes, Miriam; Omholt, Stig; Quarteroni, Alfio; Shublaq, Nour; Skar, John; Stroetmann, Karl; Tegner, Jesper; Thomas, S. Randall; Tollis, Ioannis; Tsamardinos, Ioannis; van Beek, Johannes H. G. M.; Viceconti, Marco 分享 收藏 
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