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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Ahmed, Heba M Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, María Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T.
Afiliação
  • Palmer EE; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; Genetics of Learning D
  • Hong S; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
  • Al Zahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Hashem MO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Aleisa FA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
  • Ahmed HMJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
  • Kandula T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia.
  • Macintosh R; Sydney Children's Hospital, Randwick, NSW 2031, Australia.
  • Minoche AE; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
  • Puttick C; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
  • Gayevskiy V; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
  • Drew AP; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
  • Cowley MJ; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; St. Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia.
  • Dinger M; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; St. Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
  • Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; Baylor Genetics, Houston, Texas 77021, USA.
  • Cho MT; GeneDx, Gaithersburg, Maryland 20877, USA.
  • Yakubu SF; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
  • Henderson LB; GeneDx, Gaithersburg, Maryland 20877, USA.
  • Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland 20877, USA.
  • Begtrup A; GeneDx, Gaithersburg, Maryland 20877, USA.
  • Hamad M; King Khalid University Hospital, King Saud University, Riyadh 11472, Saudi Arabia.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
  • Andrews MV; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
  • Jones MC; Division of Genetics, Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California 92123, USA.
  • Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona 85016, USA.
  • Bristol RE; Division of Pediatric Neurosurgery, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Kayani S; University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.
  • Snyder M; Department of Neurology, Children's Health, Dallas, Texas 75235, USA.
  • Villanueva MM; Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, Montañeses, Buenos Aires 2325, Argentina.
  • Schteinschnaider A; Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, Montañeses, Buenos Aires 2325, Argentina.
  • Faivre L; Inserm U1231, Lipides, Nutrition, Cancer UMR 1231 Génétique des Anomalies du Développement, Burgundy University, Dijon 21079, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon 21079, France.
  • Thauvin C; Inserm U1231, Lipides, Nutrition, Cancer UMR 1231 Génétique des Anomalies du Développement, Burgundy University, Dijon 21079, France.
  • Vitobello A; Inserm U1231, Lipides, Nutrition, Cancer UMR 1231 Génétique des Anomalies du Développement, Burgundy University, Dijon 21079, France.
  • Roscioli T; Sydney Children's Hospital, Randwick, NSW 2031, Australia; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick 2031, Australia; Neuroscience Research Australia, University of New South Wales 2031, Australia.
  • Kirk EP; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick 2031, Australia.
  • Bye A; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia.
  • Merzaban J; King Abdullah University of Science and Technology, Division of Biological and Environmental Sciences and Engineering, Thuwal 23955-6900, Saudi Arabia.
  • Jaremko L; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.
  • Jaremko M; King Abdullah University of Science and Technology, Division of Biological and Environmental Sciences and Engineering, Thuwal 23955-6900, Saudi Arabia.
  • Sachdev RK; Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
  • Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia. Electronic address: stefan.arold@kaust.edu.sa.
Am J Hum Genet ; 104(3): 542-552, 2019 03 07.
Article em En | MEDLINE | ID: mdl-30827498
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Sequências Repetitivas de Ácido Nucleico / Transtornos Neurocognitivos / Motivos de Aminoácidos / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Sequências Repetitivas de Ácido Nucleico / Transtornos Neurocognitivos / Motivos de Aminoácidos / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article