(Q41110921)

English

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

scientific article published on 29 June 2007

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. (English)

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

maternal uniparental disomy of chromosome 14

0 references

author name string

I K Temple

1

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

V Shrubb

2

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

M Lever

3

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

H Bullman

4

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

D J G Mackay

5

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

language of work or name

0 references

publication date

29 June 2007

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

44

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

10

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

637-640

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

dlk acts as a negative regulator of Notch1 activation through interactions with specific EGF-like repeats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Epigenetic regulation of mammalian genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

A case of segmental paternal isodisomy of chromosome 14.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Maternal uniparental disomy for chromosome 14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

26 September 2017

Methylation analysis of the intergenic differentially methylated region of DLK1-GTL2 in human.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

19 August 2018

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597958

19 August 2018

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/17601927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17601927

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2007.050807

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

ResearchGate publication ID

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