(Q58224409)

English

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

scientific article published on 05 January 2006

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16402210%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16402210%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

transient neonatal diabetes mellitus

1 reference

based on heuristic

inferred from title

Deborah Jg Mackay

1

1 reference

Europe PubMed Central

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15 January 2020

12

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15 January 2020

author name string

J M D Hahnemann

2

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15 January 2020

S E Boonen

3

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15 January 2020

S Poerksen

4

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15 January 2020

D J Bunyan

5

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15 January 2020

H E White

6

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Europe PubMed Central

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15 January 2020

V J Durston

7

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15 January 2020

N S Thomas

8

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15 January 2020

D O Robinson

9

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15 January 2020

J P H Shield

10

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15 January 2020

J Clayton-Smith

11

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15 January 2020

publication date

5 January 2006

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15 January 2020

1 reference

Europe PubMed Central

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15 January 2020

119

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15 January 2020

1-2

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15 January 2020

179-184

1 reference

Europe PubMed Central

PubMed publication ID

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15 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-005-0127-4

0 references

Transient neonatal diabetes, a disorder of imprinting.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imprinting errors and developmental asymmetry

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA methylation and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo quantitative bisulfite sequencing using the pyrosequencing technology.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

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/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16402210

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-0127-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16402210%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16402210%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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