Associated Papers
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Şimşek E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › fasting_glucose
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands
The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.
Komazec J et al.
Endokrynologia Polska, 2019
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Salloum R et al.
Acta Neuropathologica Communications, 2017
29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG11
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
24476040 (PubMed )
Supplement: 1471-2156-15-13-S1.docx
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.
Johansen A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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