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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Li, Hongda; Bielas, Stephanie L; Zaki, Maha S; Ismail, Samira; Farfara, Dorit; Um, Kyongmi; Rosti, Rasim O; Scott, Eric C; Tu, Shu; Chi, Neil C; Gabriel, Stacey; Erson-Omay, Emine Z; Ercan-Sencicek, A Gulhan; Yasuno, Katsuhito; Çaglayan, Ahmet Okay; Kaymakçalan, Hande; Ekici, Baris; Bilguvar, Kaya; Gunel, Murat; Gleeson, Joseph G.
Afiliación
  • Li H; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA.
  • Bielas SL; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Department of Human Genetics, School of Medicine, University of
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Ismail S; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Farfara D; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA.
  • Um K; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA.
  • Rosti RO; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA.
  • Scott EC; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA.
  • Tu S; Division of Cardiology, Department of Medicine, University of California, San Diego, San Diego, CA 92093, USA.
  • Chi NC; Division of Cardiology, Department of Medicine, University of California, San Diego, San Diego, CA 92093, USA.
  • Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
  • Erson-Omay EZ; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA.
  • Ercan-Sencicek AG; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA.
  • Yasuno K; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA.
  • Çaglayan AO; Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey.
  • Kaymakçalan H; Department of Pediatrics, Istanbul Bilim University, Istanbul 34394, Turkey.
  • Ekici B; Department of Pediatrics, Istanbul Bilim University, Istanbul 34394, Turkey.
  • Bilguvar K; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA.
  • Gunel M; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, School of Medicine, Yale University, New Haven, CT 06510, USA. Electronic address: murat.gunel@yale.edu.
  • Gleeson JG; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address: jogleeson@ucsd.edu.
Am J Hum Genet ; 99(2): 501-10, 2016 Aug 04.
Article en En | MEDLINE | ID: mdl-27453578
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Problema de salud: 2_muertes_prevenibles / 6_congenital_chromosomal_anomalies / 7_neonatal_care_health Asunto principal: Proteínas Serina-Treonina Quinasas / Mutación Missense / Péptidos y Proteínas de Señalización Intracelular / Citocinesis / Alelos / Microcefalia / Mitosis Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Problema de salud: 2_muertes_prevenibles / 6_congenital_chromosomal_anomalies / 7_neonatal_care_health Asunto principal: Proteínas Serina-Treonina Quinasas / Mutación Missense / Péptidos y Proteínas de Señalización Intracelular / Citocinesis / Alelos / Microcefalia / Mitosis Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos