Not logged inA shared pattern of altered gene expression in human embryos affected by mitochondrial diseases
Chatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rotig, Agnes; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie .png)
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SaveBi-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 Share Save Persistent Mullerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatasePicard, Jean-Yves; Morin, Gilles; Devouassoux-Shisheboran, Mojgan; Van der Smagt, Jasper; Klosowski, Serge; Pienkowski, Catherine; Pierre-Renoult, Peggy; Masson, Cecile; Bole, Christine; Josso, Nathalie Share Save Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Chopra, Maya; Caswell, Richard; Barcia, Giulia; Rondeau, Sophie; Jonard, Laurence; Nitchke, Patrick; Amram, Daniel; Bellaiche, Marc-Lionel; Abadie, Veronique; Parodi, Marine; Denoyelle, Francoise; Hattersley, Andrew; Bole, Christine; Lyonnet, Stanislas; Marlin, Sandrine Share Save Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responsesBarbieux, Claire; des Claustres, Mathilde Bonnet; Fahrner, Matthias; Petrova, Evgeniya; Tsoi, Lam C.; Gouin, Olivier; Leturcq, Florent; Nicaise-Roland, Pascale; Bole, Christine; Beziat, Vivien; Bourrat, Emmanuelle; Schilling, Oliver; Gudjonsson, Johann E.; Hovnanian, Alain Share Save Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiencyPillay, Bethany A.; Fusaro, Mathieu; Gray, Paul E.; Statham, Aaron L.; Burnett, Leslie; Bezrodnik, Liliana; Kane, Alisa; Tong, Winnie; Abdo, Chrystelle; Winter, Sarah; Chevalier, Samuel; Levy, Romain; Masson, Cecile; Schmitt, Yohann; Bole, Christine; Malphettes, Marion; Macintyre, Elizabeth; Villartay, Jean-Pierre De; Ziegler, John B.; Smart, Joanne M.; Peake, Jane; Aghamohammadi, Asghar; Hammarstrom, Lennart; Abolhassani, Hassan; Picard, Capucine; Fischer, Alain; Latour, Sylvain; Neven, Benedicte; Tangye, Stuart G.; Ma, Cindy S. Share Save Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencingFusaro, Mathieu; Rosain, Jeremie; Grandin, Virginie; Lambert, Nathalie; Hanein, Sylvain; Fourrage, Cecile; Renaud, Nicholas; Gil, Marine; Chevalier, Samuel; Abou Chahla, Wadih; Bader-Meunier, Brigitte; Barlogis, Vincent; Blanche, Stephane; Boutboul, David; Castelle, Martin; Comont, Thibault; Diana, Jean-Sebastien; Fieschi, Claire; Galicier, Lionel; Hermine, Olivier; Lefevre-Utile, Alain; Malphettes, Marion; Merlin, Etienne; Oksenhendler, Eric; Pasquet, Marlene; Suarez, Felipe; Andre, Isabelle; Beziat, Vivien; de Saint Basile, Genevieve; De Villartay, Jean-Pierre; Kracker, Sven; Lagresle-Peyrou, Chantal; Latour, Sylvain; Rieux-Laucat, Frederic; Mahlaoui, Nizar; Bole, Christine; Nitschke, Patrick; Hulier-Ammar, Elisabeth; Fischer, Alain; Moshous, Despina; Neven, Benedicte; Alcais, Alexandre; Vogt, Guillaume; Bustamante, Jacinta; Picard, Capucine Share Save 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 Share Save No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cellsSteffann, Julie; Pouliet, Aurore; Adjal, Houda; Bole, Christine; Fourrage, Cecile; Martinovic, Jelena; Rolland-Galmiche, Louise; Rotig, Agnes; Tores, Frederic; Munnich, Arnold; Bonnefont, Jean-Paul Share Save Comprehensive Identification of Meningococcal Genes and Small Noncoding RNAs Required for Host Cell ColonizationCapel, Elena; Zomer, Aldert L.; Nussbaumer, Thomas; Bole, Christine; Izac, Brigitte; Frapy, Eric; Meyer, Julie; Bouzinba-Segard, Haniaa; Bille, Emmanuelle; Jamet, Anne; Cavau, Anne; Letourneur, Franck; Bourdoulous, Sandrine; Rattei, Thomas; Nassif, Xavier; Coureuil, Mathieu Share Save Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeGerber, Sylvie; Alzayady, Kamil J.; Burglen, Lydie; Bremond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlene; Funalot, Benoit; Calmon, Raphael; Durr, Alexandra; Gil-da-Silva-Lopes, Vera Lucia; Ribeiro Bittar, Maria Fernanda; Orssaud, Christophe; Heron, Benedicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cecile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David I.; Rozet, Jean-Michel; Taie, Lucas Fares Share Save 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 Share Save 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 Share Save ALDH1A3 Mutations Cause Recessive Anophthalmia and MicrophthalmiaFares-Taie, Lucas; Gerber, Sylvie; Chassaing, Nicolas; Clayton-Smith, Jill; Hanein, Sylvain; Silva, Eduardo; Serey, Margaux; Serre, Valerie; Gerard, Xavier; Baumann, Clarisse; Plessis, Ghislaine; Demeer, Benedicte; Bretillon, Lionel; Bole, Christine; Nitschke, Patrick; Munnich, Arnold; Lyonnet, Stanislas; Calvas, Patrick; Kaplan, Josseline; Ragge, Nicola; Rozet, Jean-Michel Share Save 
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