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Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjørg; Musaev, Damir; Zaki, Maha S; Mahmoud, Iman G; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Gambin, Tomasz; Sorte, Hanne S; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G; Lupski, James R; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E.
Afiliação
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Maroofian R; Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Stray-Pedersen A; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Musaev D; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway.
  • Zaki MS; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
  • Mahmoud IG; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Selim L; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Elbadawy A; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA.
  • Jhangiani SN; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Coban Akdemir ZH; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt.
  • Gambin T; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt.
  • Sorte HS; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt.
  • Heiberg A; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • McEvoy-Venneri J; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA.
  • James KN; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Stanley V; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Belandres D; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
  • Guipponi M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Santoni FA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Ahangari N; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA.
  • Tara F; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA.
  • Doosti M; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA.
  • Iwaszkiewicz J; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA.
  • Zoete V; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Backe PH; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Hamamy H; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Gleeson JG; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Lupski JR; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran.
  • Karimiani EG; Women's Health Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Antonarakis SE; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran.
Eur J Hum Genet ; 26(3): 330-339, 2018 03.
Article em En | MEDLINE | ID: mdl-29343805
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Proteínas Oncogênicas / Deficiência Intelectual / Microcefalia Limite: Child / Child, preschool / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Proteínas Oncogênicas / Deficiência Intelectual / Microcefalia Limite: Child / Child, preschool / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça