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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Alby, Caroline; Piquand, Kevin; Huber, Céline; Megarbané, André; Ichkou, Amale; Legendre, Marine; Pelluard, Fanny; Encha-Ravazi, Ferechté; Abi-Tayeh, Georges; Bessières, Bettina; El Chehadeh-Djebbar, Salima; Laurent, Nicole; Faivre, Laurence; Sztriha, László; Zombor, Melinda; Szabó, Hajnalka; Failler, Marion; Garfa-Traore, Meriem; Bole, Christine; Nitschké, Patrick; Nizon, Mathilde; Elkhartoufi, Nadia; Clerget-Darpoux, Françoise; Munnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Saunier, Sophie; Cormier-Daire, Valérie; Attié-Bitach, Tania; Thomas, Sophie.
Afiliación
  • Alby C; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Piquand K; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Huber C; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Megarbané A; Medical Genetics Unit, Saint Joseph University, Rue de Damas, BP 175208, Mar Mikhaël, Beyrouth 1104, Lebanon.
  • Ichkou A; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Legendre M; Department of Genetics, Poitiers University Hospital, 2 Rue de la Milétrie, 86021 Poitiers, France.
  • Pelluard F; Unité de Pathologie Fœtoplacentaire, Groupe Hospitalier Pellegrin, Centre Hospitalier Universitaire, Place Amélie Raba-Léon, 33076 Bordeaux Cedex, France.
  • Encha-Ravazi F; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Abi-Tayeh G; Service de Gynécologie Obstétrique, Hôtel-Dieu de France, BP 166830, Achrafieh, Beyrouth 1100, Lebanon.
  • Bessières B; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • El Chehadeh-Djebbar S; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France.
  • Laurent N; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France.
  • Faivre L; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France.
  • Sztriha L; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary.
  • Zombor M; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary.
  • Szabó H; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary.
  • Failler M; INSERM U1163, Laboratory of Inherited Kidney Diseases, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Garfa-Traore M; Cell Imaging Platform, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Bole C; Genomic Core Facility, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Nitschké P; Bioinformatics Core Facility, Paris Descartes University, Sorbonne Paris Cité, 75015 Paris, France.
  • Nizon M; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, F
  • Elkhartoufi N; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Clerget-Darpoux F; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Munnich A; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Lyonnet S; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Vekemans M; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Saunier S; INSERM U1163, Laboratory of Inherited Kidney Diseases, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France.
  • Cormier-Daire V; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, F
  • Attié-Bitach T; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Thomas S; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France. Electronic address: sophie.thomas@inserm.fr.
Am J Hum Genet ; 97(2): 311-8, 2015 Aug 06.
Article en En | MEDLINE | ID: mdl-26166481
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Síndrome de Costilla Pequeña y Polidactilia / Deformidades Congénitas de la Mano / Trastornos de la Motilidad Ciliar / Codón sin Sentido / Proteínas de Ciclo Celular / Cardiopatías Congénitas / Hidrocefalia Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Síndrome de Costilla Pequeña y Polidactilia / Deformidades Congénitas de la Mano / Trastornos de la Motilidad Ciliar / Codón sin Sentido / Proteínas de Ciclo Celular / Cardiopatías Congénitas / Hidrocefalia Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Francia