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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Ansar, Muhammad; Chung, Hyung-Lok; Taylor, Rachel L; Nazir, Aamir; Imtiaz, Samina; Sarwar, Muhammad T; Manousopoulou, Alkistis; Makrythanasis, Periklis; Saeed, Sondas; Falconnet, Emilie; Guipponi, Michel; Pournaras, Constantin J; Ansari, Maqsood A; Ranza, Emmanuelle; Santoni, Federico A; Ahmed, Jawad; Shah, Inayat; Gul, Khitab; Black, Graeme Cm; Bellen, Hugo J; Antonarakis, Stylianos E.
Afiliação
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
  • Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Taylor RL; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Bi
  • Nazir A; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Imtiaz S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.
  • Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Manousopoulou A; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Bi
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Biomedical Research Foundation of the Academy of Athens, Athens 115 27, Greece.
  • Saeed S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.
  • Falconnet E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
  • Guipponi M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.
  • Pournaras CJ; Hirslanden Clinique La Colline, Geneva 1206, Switzerland.
  • Ansari MA; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.
  • Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Department of Endocrinology Diabetes and Metabolism, University hospital of Lausanne, Lausanne 1011, Switzerland.
  • Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Shah I; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Gul K; Department of Genetics, University of Karachi, Karachi 75270, Pakistan; Department of Bio Sciences, Faculty of Life Science, Mohammad Ali Jinnah University, Karachi 75400, Pakistan.
  • Black GC; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Bi
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston TX 77030, USA; Department of Neuroscience and Program in Dev
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address: stylianos.antonaraki
Am J Hum Genet ; 103(4): 568-578, 2018 10 04.
Article em En | MEDLINE | ID: mdl-30290152
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Catarata / Perda de Heterozigosidade / Predisposição Genética para Doença / Proteínas do Citoesqueleto Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Catarata / Perda de Heterozigosidade / Predisposição Genética para Doença / Proteínas do Citoesqueleto Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça