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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Höben, Inga M; Hjeij, Rim; Olbrich, Heike; Dougherty, Gerard W; Nöthe-Menchen, Tabea; Aprea, Isabella; Frank, Diana; Pennekamp, Petra; Dworniczak, Bernd; Wallmeier, Julia; Raidt, Johanna; Nielsen, Kim G; Philipsen, Maria C; Santamaria, Francesca; Venditto, Laura; Amirav, Israel; Mussaffi, Huda; Prenzel, Freerk; Wu, Kaman; Bakey, Zeineb; Schmidts, Miriam; Loges, Niki T; Omran, Heymut.
Afiliação
  • Höben IM; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Hjeij R; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Nöthe-Menchen T; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Aprea I; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Frank D; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Dworniczak B; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Wallmeier J; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Raidt J; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Nielsen KG; Danish PCD Centre, Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Philipsen MC; Danish PCD Centre, Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Santamaria F; Department of Translational Medical Sciences, Federico II University, 80131 Naples, Italy.
  • Venditto L; Department of Translational Medical Sciences, Federico II University, 80131 Naples, Italy.
  • Amirav I; Department of Pediatrics, University of Alberta, T6G 1C9 Edmonton, Alberta, Canada.
  • Mussaffi H; Schneider Children's Medical Center, 4920235 Petach-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, 69978 Tel Aviv, Israel.
  • Prenzel F; Clinic for Pediatrics and Adolescent Medicine, University Hospital Leipzig, 04103 Leipzig, Germany.
  • Wu K; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands.
  • Bakey Z; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands.
  • Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Frei
  • Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.
Am J Hum Genet ; 102(5): 973-984, 2018 05 03.
Article em En | MEDLINE | ID: mdl-29727693
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Síndrome de Kartagener / Dineínas / Padronização Corporal / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Síndrome de Kartagener / Dineínas / Padronização Corporal / Mutação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha