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Academic Journal

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

  • Authors : Johnson SR; Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology (QUT), Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

Subjects: Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*epidemiology ; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methodsMason-Type Diabetes

  • Source: Pediatric diabetes [Pediatr Diabetes] 2019 Feb; Vol. 20 (1), pp. 57-64. Date of Electronic Publication: 2018 Nov 14.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms.

  • Authors : Johnson SR; Department of Endocrinology, Lady Cilento Children's Hospital, South Brisbane, QLD, Australia.; Faculty of Medicine, The University of Queensland, Herston, QLD, Australia.

Subjects: Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics ; Insulin/Insulin/Insulin/*genetics; Adult Mason-Type Diabetes

  • Source: Pediatric diabetes [Pediatr Diabetes] 2018 Aug; Vol. 19 (5), pp. 905-909. Date of Electronic Publication: 2018 May 22.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

  • Authors : Johnson SR; Department of Endocrinology, Lady Cilento Children's Hospital, South Brisbane, Australia.; University of Queensland Diamantina Institute, University of Queensland, Translational Research Institute, Woolloongabba, Australia.

Subjects: Whole Genome Sequencing*/Whole Genome Sequencing*/Whole Genome Sequencing*/methods; Congenital Hyperinsulinism/Congenital Hyperinsulinism/Congenital Hyperinsulinism/*genetics ; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods Mason-Type Diabetes

  • Source: Pediatric diabetes [Pediatr Diabetes] 2018 Jun; Vol. 19 (4), pp. 656-662. Date of Electronic Publication: 2018 Feb 08.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium:

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