Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. (Q46772913)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

0 references

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Itziar Estalella

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

Eduardo Fernandez-Rebollo

2 January 2020

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

Guiomar Perez de Nanclares

2 January 2020

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

Guiomar Perez de Nanclares

2 January 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1

Intza Garin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Itxaso Rica

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Mirentxu Oyarzabal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Mercedes Rodríguez-Rigual

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jose Ignacio San Pedro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Gustavo Pérez-Nanclares

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Maria Angeles Busturia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Spanish MODY Group

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

publication date

1 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

published in

Clinical Endocrinology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

873-878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18248649%20AND%20SRC:MED&resulttype=core&format=json

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

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

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.1365-2265.2008.03214.X

Glucokinase, glucose homeostasis, and diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.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.1365-2265.2008.03214.X

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

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

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

MLPA and MAPH: new techniques for detection of gene deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Diagnosis and classification of diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.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.1365-2265.2008.03214.X

Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X

Clinical Testing for Mutations in theMEN1Gene in Sweden: A Report on 200 Unrelated Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2008.03214.X