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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz; Iqbal, Zafar; Khan, Jamshed; Assir, Muhammad Zaman; Hussain, Mureed; Razzaq, Attia; Polla, Daniel Lôpo; Taj, Abid Sohail; Holmgren, Asbjørn; Batool, Naila; Misceo, Doriana; Iwaszkiewicz, Justyna; de Brouwer, Arjan P M; Guipponi, Michel; Hanquinet, Sylviane; Zoete, Vincent; Santoni, Federico A; Frengen, Eirik; Ahmed, Jawad; Riazuddin, Sheikh; van Bokhoven, Hans; Antonarakis, Stylianos E.
Afiliação
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Riazuddin S; Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Sarwar MT; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Makrythanasis P; Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Paracha SA; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Iqbal Z; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Khan J; Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Assir MZ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviou, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hussain M; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Razzaq A; Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Polla DL; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Taj AS; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
  • Holmgren A; Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
  • Batool N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviou, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Misceo D; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Iwaszkiewicz J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviou, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Brouwer APM; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Guipponi M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviou, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hanquinet S; Center for Genetic Diseases, CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
  • Zoete V; Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Santoni FA; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Frengen E; Department of Molecular Biology and Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
  • Ahmed J; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Riazuddin S; Swiss Institute of Bioinformatics, Molecular Modeling Group, Lausanne, Switzerland.
  • van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviou, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
Genet Med ; 20(7): 778-784, 2018 07.
Article em En | MEDLINE | ID: mdl-28837161
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça