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Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj, Avinaash; Buonocore, Federica; Meimaridou, Eirini; Ruiz-Babot, Gerard; Guasti, Leonardo; Peng, Hwei-Ming; Capper, Cameron P; Burgos-Tirado, Neikelyn; Prasad, Rathi; Hughes, Claire R; Maudhoo, Ashwini; Crowne, Elizabeth; Cheetham, Timothy D; Brain, Caroline E; Suntharalingham, Jenifer P; Striglioni, Niccolò; Yuksel, Bilgin; Gurbuz, Fatih; Gupta, Sangay; Lindsay, Robert; Couch, Robert; Spoudeas, Helen A; Guran, Tulay; Johnson, Stephanie; Fowler, Dallas J; Conwell, Louise S; McInerney-Leo, Aideen M; Drui, Delphine; Cariou, Bertrand; Lopez-Siguero, Juan P; Harris, Mark; Duncan, Emma L; Hindmarsh, Peter C; Auchus, Richard J; Donaldson, Malcolm D; Achermann, John C; Metherell, Louise A.
Afiliação
  • Maharaj A; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Meimaridou E; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Ruiz-Babot G; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Guasti L; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Peng HM; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
  • Capper CP; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan.
  • Burgos-Tirado N; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
  • Prasad R; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan.
  • Hughes CR; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
  • Maudhoo A; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan.
  • Crowne E; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Cheetham TD; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Brain CE; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
  • Suntharalingham JP; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
  • Striglioni N; Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.
  • Yuksel B; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Gurbuz F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Gupta S; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Lindsay R; Department of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey.
  • Couch R; Department of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey.
  • Spoudeas HA; Department of Pediatrics, Hull Royal Infirmary, Hull, United Kingdom.
  • Guran T; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom.
  • Johnson S; Division of Pediatric Endocrinology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • Fowler DJ; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Conwell LS; Department Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.
  • McInerney-Leo AM; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Drui D; University of Queensland, Brisbane, Queensland, Australia.
  • Cariou B; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Lopez-Siguero JP; University of Queensland, Brisbane, Queensland, Australia.
  • Harris M; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • Duncan EL; University of Queensland, Brisbane, Queensland, Australia.
  • Hindmarsh PC; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Auchus RJ; Department of Endocrinology, l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France.
  • Donaldson MD; INSERM UMR 1087, CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France.
  • Achermann JC; Pediatric Endocrinology Unit, Children's Hospital, Institute of Biomedical Research in Malaga, Málaga, Spain.
  • Metherell LA; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
J Endocr Soc ; 3(1): 201-221, 2019 Jan 01.
Article em En | MEDLINE | ID: mdl-30620006
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Endocr Soc Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Endocr Soc Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido