Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus (Q58224409)

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scientific article published on 05 January 2006

Language	Label	Description	Also known as
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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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

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

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based on heuristic

inferred from title

Deborah Jg Mackay

1

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12

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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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H E White

6

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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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publication date

5 January 2006

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15 January 2020

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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

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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

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

15 January 2020

1 reference

Europe PubMed Central

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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