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Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa, Sunita M C; Wu, Kathy H C; Colclough, Kevin; Rawlings, Lesley; Dubowsky, Andrew; Monnik, Melissa; Poplawski, Nicola; Scott, Hamish S; Horowitz, Michael; Torpy, David J.
Affiliation
  • De Sousa SMC; Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, Australia. Sunita.DeSousa@sa.gov.au.
  • Wu KHC; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia. Sunita.DeSousa@sa.gov.au.
  • Colclough K; Adelaide Medical School, University of Adelaide, Adelaide, Australia. Sunita.DeSousa@sa.gov.au.
  • Rawlings L; Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, Australia.
  • Dubowsky A; School of Medicine, University of New South Wales, Sydney, NSW, Australia.
  • Monnik M; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • Poplawski N; School of Medicine, University of Notre Dame, Sydney, NSW, Australia.
  • Scott HS; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Horowitz M; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
  • Torpy DJ; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Acta Diabetol ; 61(2): 181-188, 2024 Feb.
Article in En | MEDLINE | ID: mdl-37812285
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Diabetes Mellitus, Type 2 Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Oceania Language: En Journal: Acta Diabetol Journal subject: ENDOCRINOLOGIA Year: 2024 Document type: Article Affiliation country: Australia Country of publication: Germany
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Diabetes Mellitus, Type 2 Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Oceania Language: En Journal: Acta Diabetol Journal subject: ENDOCRINOLOGIA Year: 2024 Document type: Article Affiliation country: Australia Country of publication: Germany