(Q37619901)

21 August 2017

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model (English)

1 reference

21 August 2017

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Anette P. Gjesing

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Mette Hollensted

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Oluf Borbye Pedersen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jun Wang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Torben Hansen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Rui Gao

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Yanxia Liu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Xianzi Wan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Shuwen He

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Xin Yi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

publication date

29 January 2014

1 reference

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

The expanding burden of cardiometabolic risk in China: the China Health and Nutrition Survey.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Mutations in CIC and FUBP1 contribute to human oligodendroglioma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Genetic approaches to understanding human obesity.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Definition, epidemiology and classification of diabetes in children and adolescents

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

The Sequence Alignment/Map format and SAMtools

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

SNP detection for massively parallel whole-genome resequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

The diploid genome sequence of an Asian individual

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943834

Heterozygous ABCC8 mutations are a cause of MODY

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-15-13

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-15-13

Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2156-15-13

Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24476040

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2156-15-13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

24476040

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24476040%20AND%20SRC:MED&resulttype=core&format=json