(Q61312142)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18454453%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster (English)

1 reference

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6 January 2020

3

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6 January 2020

author name string

Karin Buiting

1

1 reference

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6 January 2020

Deniz Kanber

2

1 reference

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6 January 2020

Wolfgang Lieb

4

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6 January 2020

Paulien Terhal

5

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6 January 2020

Beate Albrecht

6

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6 January 2020

Sabine Purmann

7

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6 January 2020

Stephanie Gross

8

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6 January 2020

Christina Lich

9

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6 January 2020

Bernhard Horsthemke

11

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6 January 2020

Gabriele Gillessen-Kaesbach

12

1 reference

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6 January 2020

Reiner Siebert

10

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6 January 2020

publication date

1 September 2008

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6 January 2020

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6 January 2020

volume

29

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6 January 2020

issue

9

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6 January 2020

page(s)

1141-1146

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Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

A case of segmental paternal isodisomy of chromosome 14.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Interphase FISH assays for the detection of translocations with breakpoints in immunoglobulin light chain loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Maternal uniparental disomy for chromosome 14

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

A comprehensive analysis of common copy-number variations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20771

7 January 2021

Identifiers

DOI

10.1002/HUMU.20771

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18454453%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference