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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard, Carine; Shboul, Mohammad; Tonekaboni, Seyed Hassan; Ng, Alvin Yu Jin; Tohari, Sumanty; Ghosh, Kakaly; Lai, Angeline; Lim, Jiin Ying; Tan, Ene Choo; Devisme, Louise; Stichelbout, Morgane; Alkindi, Adila; Banu, Nazreen; Yüksel, Zafer; Ghoumid, Jamal; Elkhartoufi, Nadia; Boutaud, Lucile; Micalizzi, Alessia; Brett, Maggie Siewyan; Venkatesh, Byrappa; Valente, Enza Maria; Attié-Bitach, Tania; Reversade, Bruno; Kariminejad, Ariana.
Afiliação
  • Bonnard C; Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address: carine.bonnard@imb.a-star.edu.sg.
  • Shboul M; Institute of Medical Biology, A*STAR, Singapore, Singapore; Al-Balqa Applied University, Faculty of Science, Al-Salt, Jordan.
  • Tonekaboni SH; Pediatric Neurology Research Center, SBMU, Tehran, Iran.
  • Ng AYJ; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
  • Tohari S; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
  • Ghosh K; Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Lai A; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
  • Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
  • Tan EC; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
  • Devisme L; Institute of Pathology, Centre de Biologie Pathologie, CHRU Lille, France.
  • Stichelbout M; Institute of Pathology, Centre de Biologie Pathologie, CHRU Lille, France.
  • Alkindi A; Genetics Department, Sultan Qaboos University Hospital, Oman.
  • Banu N; Genetics Department, Sultan Qaboos University Hospital, Oman.
  • Yüksel Z; Medical Genetics Department, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Ghoumid J; Service de Génétique Clinique et Université Lille 2, CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France.
  • Elkhartoufi N; Département de Génétique, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Boutaud L; Département de Génétique, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; INSERM U1163, Laboratoire d'Embryologie et Génétique des malformations congénitales, Université Paris Descartes, Sorbonne Paris Cite et Institute Imagine, Paris, France.
  • Micalizzi A; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Brett MS; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
  • Venkatesh B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Valente EM; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Attié-Bitach T; Département de Génétique, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France; INSERM U1163, Laboratoire d'Embryologie et Génétique des malformations congénitales, Université Paris Descartes, Sorbonne Paris Cite et Institute Imagine, Paris, France.
  • Reversade B; Institute of Medical Biology, A*STAR, Singapore, Singapore; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
  • Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Eur J Med Genet ; 61(10): 585-595, 2018 Oct.
Article em En | MEDLINE | ID: mdl-29605658
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Mutação em Linhagem Germinativa / Doenças Renais Císticas / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Mutação em Linhagem Germinativa / Doenças Renais Císticas / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article