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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A; Blizzard, Lauren E; Leslie, Joseph S; Wakeling, Matthew N; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G; Turnpenny, Peter D; Walsh, Joseph R; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E; Lupski, James R; Dobyns, William B; Stottmann, Rolf W; Crosby, Andrew H; Baple, Emma L.
Afiliação
  • Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin P227, Palestine.
  • Fasham J; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, U
  • Inskeep KA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA.
  • Blizzard LE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA.
  • Leslie JS; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
  • Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
  • Ubeyratna N; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Griffith JL; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Baker W; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine.
  • Al-Hijawi F; Paediatrics Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine.
  • Keough KC; Department of Pediatrics, Dell Medical School, 1400 Barbara Jordan Boulevard, Austin, TX 78723, USA; Child Neurology Consultants of Austin, 7940 Shoal Creek Boulevard, Suite 100, Austin, TX 78757, USA.
  • Gezdirici A; Department of Medical Genetics, Basaksehir Çam and Sakura City Hospital, 34480 Istanbul, Turkey.
  • Pena L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  • Spaeth CG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  • Turnpenny PD; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, U
  • Walsh JR; Department of Neurological Surgery, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
  • Ray R; Departments of Pediatrics and Medical Genetics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Neilson A; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
  • Kouranova E; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
  • Cui X; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA.
  • Curiel DT; Department of Biomedical Engineering, McKelvey School of Engineering, Washington University in Saint Louis, St. Louis, MO 63130, USA; Division of Cancer Biology, Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA; Biologic Therapeutic
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, 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, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
  • Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA.
  • Stottmann RW; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA; Division of Human Genet
  • Crosby AH; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK.
  • Baple EL; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, U
Am J Hum Genet ; 109(11): 2068-2079, 2022 11 03.
Article em En | MEDLINE | ID: mdl-36283405
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article