(Q34284722)

1 August 2017

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes (English)

1 reference

intrauterine growth restriction

1 August 2017

1 reference

inferred from title

author

Jaime Guevara-Aguirre

2

object named as

Jaime Guevara-Aguirre

1 reference

1 August 2017

11

Ron G Rosenfeld

1 reference

1 August 2017

13

Vivian Hwa

1 reference

1 August 2017

Sarah L Kerns

1

1 reference

1 August 2017

Shayne Andrew

3

1 reference

1 August 2017

Juan Geng

4

1 reference

1 August 2017

Carolina Guevara

5

1 reference

1 August 2017

Marco Guevara-Aguirre

6

1 reference

1 August 2017

Michael Guo

7

1 reference

1 August 2017

Carole Oddoux

8

1 reference

1 August 2017

Yiping Shen

9

1 reference

1 August 2017

Andres Zurita

10

1 reference

1 August 2017

Harry Ostrer

12

1 reference

1 August 2017

Andrew Dauber

14

1 reference

1 August 2017

language of work or name

English

0 references

publication date

24 July 2014

1 reference

The Journal of Clinical Endocrinology and Metabolism

1 August 2017

1 reference

1 August 2017

99

1 reference

1 August 2017

10

1 reference

1 August 2017

E2117-22

1 reference

Targeting the cell cycle inhibitor p57Kip2 promotes adult human β cell replication.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

The p57 CDKi integrates stress signals into cell-cycle progression to promote cell survival upon stress

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

CDK inhibitors: cell cycle regulators and beyond

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Hypoglycemia in Beckwith-Wiedemann syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184067

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25057881

12 December 2020

inferred from PubMed ID database lookup

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25057881

12 December 2020

inferred from PubMed ID database lookup

Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25057881

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1210/JC.2014-1949

1 reference

1 August 2017

1 reference

1 August 2017

1 reference