Results 141 to 150 of about 14,720 (176)

Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice. [PDF]

Front Endocrinol (Lausanne)
Thewjitcharoen Y, Chatchomchuan W, Wanothayaroj E, Nakasatien S, Lim CKP, Himathongkam T, Chan JCN.   +6 more
europepmc   +1 more source

Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders. [PDF]

Front Endocrinol (Lausanne)
Deng L, Krishnamurthy M.
europepmc   +1 more source

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY. [PDF]

Diabetologia
Laver TW, Sriram A, Wakeling MN, Şiklar Z, Kobaisi F, Kalyon O, Hattersley AT, Weedon MN, Flanagan SE, De Franco E, Colclough K, Patel KA.   +11 more
europepmc   +1 more source

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.

J Clin Endocrinol Metab
Sharp LN, Colclough K, Murray Leech J, Cannon SJ, Laver TW, Hattersley AT, Weedon MN, Patel KA.   +7 more
europepmc   +1 more source

A Novel GCK Large Genomic Rearrangement in a Patient With MODY-2 Detected by Clinical Exome Sequencing [PDF]

Genes, 2022
Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY.
Andrea Urbani, Paola Concolino, Elisa De Paolis   +2 more
exaly   +3 more sources

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Maternal and Infant Outcomes in GCK-MODY Complicated by Pregnancy

The Journal of Clinical Endocrinology & Metabolism, 2023
Abstract Context Challenges exist in the management of Glucokinase–maturity-onset diabetes of the young (GCK-MODY), especially during pregnancy. Objective This work aimed to evaluate the prevalence of congenital anomaly in newborns ...
Qian Ren, Zhihui Wang, Wenjia Yang, Xueyao Han, Linong Ji   +4 more
openaire   +2 more sources

Identification of 21 Novel Glucokinase (GCK) Mutations in UK and European Caucasians With Maturity-Onset Diabetes of the Young (MODY)

Human Mutation, 2003
Maturity-onset diabetes of the young (MODY) resulting from mutations in the glucokinase (GCK) gene accounts for approximately 20% of MODY in the UK.
Andrew Tym Hattersley, Sian Ellard, Anna Gloyn   +2 more
exaly   +2 more sources

Novel Mutations in GCK and HNF1A Genes in Italian Families With MODY Phenotype

Diabetes Research and Clinical Practice, 2009
Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A.
Agostino Consoli, Giuseppina Ruggiero, Alessia Cappelli   +2 more
exaly   +2 more sources

MODY Type 2 P59S GCK Mutant: Founder Effect in South of Italy

Clinical Genetics, 2013
Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M. MODY type 2 P59S GCK mutant: founder effect in South of Italy. Clin Genet 2013: 83: 83-87. (C) John Wiley & Sons A/S.
Maurizio Delvecchio, Emanuele Bellacchio, Massimo Carella   +2 more
exaly   +3 more sources