(Q51469456)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

Guiomar Perez de Nanclares

1 January 2020

author

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Luis Castaño

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Itziar Estalella

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jose Ramon Bilbao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Itxaso Rica

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jose Antonio Vazquez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jose Ignacio San Pedro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Maria Angeles Busturia

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Spanish MODY Group

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

15 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

published in

Clinical Endocrinology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17573900%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

4

1 reference

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1 January 2020

page(s)

538-546

1 reference

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

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

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Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

21 January 2018

1 reference

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Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus

21 January 2018

1 reference

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SIFT: Predicting amino acid changes that affect protein function

21 January 2018

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Prediction of deleterious human alleles

21 January 2018

1 reference

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High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Molecular scanning analysis of hepatocyte nuclear factor 1alpha (TCF1) gene in typical familial type 2 diabetes in African Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutations in the glucokinase gene of the fetus result in reduced birth weight

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

GeneSplicer: a new computational method for splice site prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2007.02921.X