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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Coban Akdemir, Zeynep; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V; Hijazi, Hadia; Grochowski, Christopher M; Jhangiani, Shalini N; Karaca, Ender; Fatih, Jawid M; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E; Ropers, Hans-Hilger; Gibbs, Richard A; Wiszniewski, Wojciech; Lupski, James R; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel.
Afiliação
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: tadahiro.mitani@bcm.edu.
  • Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Present address: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Akalin I; Department of Medical Genetics, Istanbul Medeniyet University, Faculty of Medicine, Istanbul, 34720, Turkey.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland.
  • Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yilmaz S; Department of Medical Genetics, Istanbul Medeniyet University, Faculty of Medicine, Istanbul, 34720, Turkey.
  • Aslan E; Istanbul Medeniyet University, Faculty of Medicine, Istanbul, 34720, Turkey.
  • Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Present address: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Iwanowski P; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, 04-730, Poland.
  • Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland; Institute of Computer Science, Warsaw University of Technology, Warsaw, 00-661, -SA'>04-730, Poland.
  • Wlasienko P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland.
  • Goszczanska-Ciuchta A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, 01-211, Poland.
  • Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, 01-211, Poland.
  • Hosseini M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19857, Iran.
  • Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19857, Iran.
  • Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19857, Iran.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, 13110 Safat, Kuwait.
  • Blaser S; Department of Diagnostic Imaging, Division of Pediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Teitelbaum R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1Z5, Canada.
  • Silver R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1Z5, Canada.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Ropers HH; Institute for Human Genetics, University Medicine Mainz, Mainz, 55131, Germany.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR 97239, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX
  • Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1Z5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, T
  • Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, 19857, Iran.
  • Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland. Electronic address: pawel.gawlinski@imid.med.pl.
Am J Hum Genet ; 105(5): 1005-1015, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31630790
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Lisencefalia / Microcefalia / Proteínas Associadas aos Microtúbulos Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Lisencefalia / Microcefalia / Proteínas Associadas aos Microtúbulos Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article