(Q37004529)

English

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

scientific article published on 13 September 2006

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region (English)

1 reference

Europe PubMed Central

17 August 2017

author name string

C Diatloff-Zito

1

1 reference

Europe PubMed Central

17 August 2017

A Nicole

2

1 reference

Europe PubMed Central

17 August 2017

G Marcelin

3

1 reference

Europe PubMed Central

17 August 2017

H Labit

4

1 reference

Europe PubMed Central

17 August 2017

E Marquis

5

1 reference

Europe PubMed Central

17 August 2017

C Bellanné-Chantelot

6

1 reference

Europe PubMed Central

17 August 2017

J J Robert

7

1 reference

Europe PubMed Central

17 August 2017

language of work or name

0 references

publication date

13 September 2006

1 reference

Europe PubMed Central

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

17 August 2017

44

1 reference

Europe PubMed Central

17 August 2017

1

1 reference

Europe PubMed Central

17 August 2017

31-37

1 reference

Europe PubMed Central

17 August 2017

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Zac1 is expressed in progenitor/stem cells of the neuroectoderm and mesoderm during embryogenesis: differential phenotype of the Zac1-expressing cells during development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Lsh controls silencing of the imprinted Cdkn1c gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Transient neonatal diabetes mellitus and macroglossia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

High sensitivity mapping of methylated cytosines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

29 September 2017

Zinc finger protein Zac1 is expressed in chondrogenic sites of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

27 June 2018

Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

27 June 2018

Macroglossia, transient neonatal diabetes mellitus and intrauterine growth failure: a new distinct entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

27 June 2018

Members of the Plag gene family are expressed in complementary and overlapping regions in the developing murine nervous system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

4 September 2018

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

4 September 2018

Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

4 September 2018

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

4 September 2018

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597920

4 December 2018

Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/16971482

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2006.044404

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

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0 references

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