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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A Y; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H; Gorman, Gráinne S; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E; Hickson, Ian D.
Afiliação
  • Martin CA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Sarlós K; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.
  • Logan CV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Thakur RS; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.
  • Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Bizard AH; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.
  • Leitch A; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Cleal L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Ali NS; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai.
  • Al-Owain MA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Allen W; Fullerton Genetics Center, Asheville, NC 28803, USA.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Aza-Carmona M; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain.
  • Barakat BAY; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai.
  • Barraza-García J; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain.
  • Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Bogliolo M; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain.
  • Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Cruz-Rojo J; Department of Pediatric Endocrinology & Dysmorphology, Hospital 12 Octubre, Madrid 28041, Spain.
  • Dhahrabi HAM; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai.
  • Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul 34722, Turkey.
  • Gorman GS; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, School of Medical Education, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Jobling R; The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Kesterton I; Cytogenetics Department, Viapath Analytics, Guy's Hospital, London SE1 9RT, UK.
  • Kishita Y; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
  • Kohda M; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
  • Le Quesne Stabej P; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Malallah AJ; Dubai Hospital, Al Khaleej Street, Al Baraha, PO Box 7272, Dubai.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350-0495, Japan.
  • Okazaki Y; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
  • Pujol R; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain.
  • Ramirez MJ; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain.
  • Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan.
  • Stevens P; Cytogenetics Department, Viapath Analytics, Guy's Hospital, London SE1 9RT, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, School of Medical Education, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Turner L; Memorial University of Newfoundland, St. John's, NL A1C 5S7, Canada.
  • Williams H; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Wilson C; Fullerton Genetics Center, Asheville, NC 28803, USA.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Zahavich L; The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Surralles J; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain; Department of Genetics and Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona
  • Iglesias A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center, New York, NY 10032, USA.
  • Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan.
  • Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Dattani M; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Heath KE; Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPaz, Madrid 28046, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28029, Spain.
  • Hickson ID; Center for Chromosome Stability and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 Copenhagen N, Denmark. Electronic address: iandh@sund.ku.dk.
Am J Hum Genet ; 103(2): 221-231, 2018 08 02.
Article em En | MEDLINE | ID: mdl-30057030
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido