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Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
Casey, Jillian P; Brennan, Kieran; Scheidel, Noemie; McGettigan, Paul; Lavin, Paul T; Carter, Stephen; Ennis, Sean; Dorkins, Huw; Ghali, Neeti; Blacque, Oliver E; Mc Gee, Margaret M; Murphy, Helen; Lynch, Sally Ann.
Afiliação
  • Casey JP; Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland, UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, jillian.casey@ucd.ie.
  • Brennan K; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • Scheidel N; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • McGettigan P; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, UCD School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland.
  • Lavin PT; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • Carter S; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • Ennis S; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences.
  • Dorkins H; North West Thames Regional Genetics Service, Northwick Park Hospital, London North West Healthcare NHS Trust, Watford Road, Harrow HA1 3UJ, UK, Leicestershire Genetics Service, Leicester Royal Infirmary, Leicester LE1 5WW, UK, St Peter's College, University of Oxford, Oxford OX1 2DL, UK and.
  • Ghali N; North West Thames Regional Genetics Service, Northwick Park Hospital, London North West Healthcare NHS Trust, Watford Road, Harrow HA1 3UJ, UK.
  • Blacque OE; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • Mc Gee MM; UCD School of Biomolecular & Biomedical Science, Conway Institute.
  • Murphy H; Manchester Academic Health Science Centre, Genetic Medicine-University of Manchester, St Mary's Hospital, Manchester, UK.
  • Lynch SA; Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland, UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences.
Hum Mol Genet ; 25(9): 1824-35, 2016 05 01.
Article em En | MEDLINE | ID: mdl-26908619
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Ciclo Celular / Cílios / Quinases Relacionadas a NIMA / Genes Recessivos / Mutação Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Ciclo Celular / Cílios / Quinases Relacionadas a NIMA / Genes Recessivos / Mutação Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article