Copy Number Variation in GCK in patients with Maturity-Onset Diabetes of the Young (Q64355726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30912798%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30912798%20AND%20SRC:MED&resulttype=core&format=json

maturity-onset diabetes of the young

30 April 2020

main subject

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30 April 2020

Amanda J Berberich

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30 April 2020

Céline Huot

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30 April 2020

Henian Cao

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30 April 2020

Adam D McIntyre

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30 April 2020

John F Robinson

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30 April 2020

Jian Wang

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30 April 2020

language of work or name

English

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publication date

1 August 2019

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The Journal of Clinical Endocrinology and Metabolism

30 April 2020

published in

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volume

104

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issue

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30 April 2020

page(s)

3428-3436

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Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity

30 April 2020

cites work

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12 December 2020

Molecular and genetic bases for maturity onset diabetes of youth

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12 December 2020

Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

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12 December 2020

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young

1 reference

12 December 2020

The genetic abnormality in the beta cell determines the response to an oral glucose load

1 reference

12 December 2020

Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics

1 reference

12 December 2020

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

1 reference

12 December 2020

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)

1 reference

12 December 2020

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

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12 December 2020

Genetic and clinical characteristics of maturity-onset diabetes of the young

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Six novel mutations in the GCK gene in MODY patients

1 reference

12 December 2020

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

1 reference

12 December 2020

MODY: history, genetics, pathophysiology, and clinical decision making

1 reference

12 December 2020

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes.

1 reference

12 December 2020

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

1 reference

12 December 2020

Maturity onset diabetes of the young: identification and diagnosis

1 reference

12 December 2020

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

1 reference

12 December 2020

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

1 reference

12 December 2020

Maturity onset diabetes of the young (MODY)--history, first case reports and recent advances.

1 reference

12 December 2020

Maturity-onset diabetes of the young (MODY): an update

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12 December 2020

Undiagnosed MODY: Time for Action

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12 December 2020

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated

1 reference

12 December 2020

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

1 reference

12 December 2020

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young

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12 December 2020

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

1 reference

12 December 2020

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

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12 December 2020

A novel heterozygous deletion in the intron 8-exon 9 boundary of the glucokinase gene in a Chinese pedigree of GCK-MODY

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12 December 2020

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

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12 December 2020

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

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12 December 2020

Role of DNA copy number variation in dyslipidemias

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12 December 2020

Clinical Management of Women with Monogenic Diabetes During Pregnancy

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12 December 2020

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia

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12 December 2020

Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

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12 December 2020

Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus

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12 December 2020

Genetic causes and treatment of neonatal diabetes and early childhood diabetes

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12 December 2020

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

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12 December 2020

Identifiers

DOI

10.1210/JC.2018-02574

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30912798%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

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30 April 2020

PubMed publication ID

30912798

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30912798%20AND%20SRC:MED&resulttype=core&format=json