Search
Search Results
-
Il MODY: genetica e quadri clinici associati
Maturity onset diabetes of the young (MODY) is a rare form of diabetes which is different from both type 1 and type 2 diabetes and it is caused by a...
-
An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Maturity Onset Diabetes of the Young (MODY) is a monogenic autosomal dominant disorder affecting 1-5 % of all patients with diabetes mellitus. In...
-
Insulin titration and blood glucose fluctuations during pregnancy in GCK-MODY: Case Report
BackgroundGlucokinase-maturity onset diabetes of the young (GCK-MODY) is a form of monogenic diabetes that is caused by heterozygous inactivating...
-
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion
Purpose of ReviewMaturity-onset diabetes of the young (MODY) are monogenic forms of diabetes resulting from genetic defects, usually transmitted in...
-
Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls
AimsPrevious structural, vascular density, and perfusion studies have mostly comprised type 1 and type 2 diabetes, even in the absence of...
-
Challenges in the management of patients with HNF1B MODY and multisystem manifestations: the cases of two adolescent boys
IntroductionHepatocyte nuclear factor-1 beta ( HNF1B ) encodes a homeodomain-containing transcription factor, which is expressed early in...
-
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes
ObjectiveCEL-related maturity-onset diabetes of the young (CEL-MODY, MODY8) is a special type of monogenetic diabetes caused by mutations in the...
-
Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients
PurposeMonogenic diabetes (MD) is caused by a mutation in a single gene and accounts for approximately 2.5–6% of all diabetes cases. Maturity-onset...
-
Targeted next-generation sequencing for maturity onset diabetes of the young (MODY) in a South Indian cohort of type 1 diabetes mellitus patients with preserved C-peptide
ObjectiveMODY (maturity onset diabetes of the young) is a rare, monogenic, autosomal dominant form of diabetes occurring in young (< 25 years)...
-
HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF
Premature ovarian failure (POF) defines the occurrence of ovarian failure prior to the age of 40. It occurs in one out of 100 women but is very rare...
-
The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
BackgroundA maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study...
-
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing
Aims/hypothesisIn pregnancies where the mother has glucokinase-MODY (GCK-MODY), fetal growth is determined by fetal genotype. When the fetus inherits...
-
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center
BackgroundMaturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1–5% of all cases of diabetes mellitus. MODY...
-
HNF1α upregulation and promoter hypermethylation as a cause of glucose dysregulation: a case–control study of Kashmiri MODY population
AimHNF1α transcription factor regulates a network of genes involved in the development of β-cells and also serves as a model for transcription...
-
Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study
BackgroundThere is no apparent data on the prevalence of maturity-onset diabetes of young (MODY) in adults in Turkey.
AimWe aimed to define the...
-
Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
BackgroundMaturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported...
-
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
BackgroundDiagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic...
-
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
AimsThis study aims to describe the prevalence of monogenic diabetes in an Australian referral cohort, in relation to Exeter maturity-onset diabetes...
-
-
A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY
Aims/hypothesisSystematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of...
