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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds, John J; Bicknell, Louise S; Carroll, Paula; Higgs, Martin R; Shaheen, Ranad; Murray, Jennie E; Papadopoulos, Dimitrios K; Leitch, Andrea; Murina, Olga; Tarnauskaite, Zygimante; Wessel, Sarah R; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M A; Logan, Clare V; Bye, Hannah; Li, Yun; Brean, Alexander; Maddirevula, Sateesh; Challis, Rachel C; Skouloudaki, Kassiani; Almoisheer, Agaadir; Alsaif, Hessa S; Amar, Ariella; Prescott, Natalie J; Bober, Michael B; Duker, Angela; Faqeih, Eissa; Seidahmed, Mohammed Zain; Al Tala, Saeed; Alswaid, Abdulrahman; Ahmed, Saleem; Al-Aama, Jumana Yousuf; Altmüller, Janine; Al Balwi, Mohammed; Brady, Angela F; Chessa, Luciana; Cox, Helen; Fischetto, Rita; Heller, Raoul; Henderson, Bertram D; Hobson, Emma; Nürnberg, Peter; Percin, E Ferda; Peron, Angela; Spaccini, Luigina; Quigley, Alan J; Thakur, Seema; Wise, Carol A.
Afiliação
  • Reynolds JJ; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Bicknell LS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Carroll P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Murray JE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Papadopoulos DK; Max-Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.
  • Leitch A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Murina O; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Tarnauskaite Z; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Wessel SR; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • Zlatanou A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Vernet A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • von Kriegsheim A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Mottram RM; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Logan CV; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Bye H; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK.
  • Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Brean A; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Challis RC; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Skouloudaki K; Max-Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.
  • Almoisheer A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Amar A; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK.
  • Prescott NJ; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, King's College London, Guy's Hospital, London, UK.
  • Bober MB; Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Duker A; Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
  • Al Tala S; Armed Forces Hospital, SR. P.D. Genetic Unit. Khamis Mushayt, Saudi Arabia.
  • Alswaid A; Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Ahmed S; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
  • Al-Aama JY; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.
  • Altmüller J; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
  • Al Balwi M; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.
  • Brady AF; Cologne Center for Genomics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Chessa L; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Cox H; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
  • Fischetto R; Department of Clinical and Molecular Medicine, University La Sapienza, Roma, Italy.
  • Heller R; West Midlands Regional Clinical Genetics Service, Birmingham Women's Hospital, West Midlands, UK.
  • Henderson BD; Pediatric Hospital Giovanni XXIII, Bari, Italy.
  • Hobson E; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
  • Nürnberg P; Divison of Clinical Genetics, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.
  • Percin EF; Department of Genetics, Yorkshire Regional Genetic service, Chapel Allerton Hospital, Leeds, UK.
  • Peron A; Cologne Center for Genomics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Spaccini L; Department of Medical Genetics, Gazi University Faculty of Medicine, Besevler Ankara, Turkey.
  • Quigley AJ; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.
  • Thakur S; Child Neuropsychiatry Unit-Epilepsy Center, San Paolo University Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Wise CA; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.
Nat Genet ; 49(4): 537-549, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28191891
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Instabilidade Genômica / Proteínas de Ligação a DNA / Replicação do DNA / Nanismo / Microcefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Instabilidade Genômica / Proteínas de Ligação a DNA / Replicação do DNA / Nanismo / Microcefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido