(Q48075617)

8 February 2018

http://europepmc.org/abstract/MED/18176563

title

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes (English)

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Masayo Kagami

1

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author name string

Yoichi Sekita

2

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http://europepmc.org/abstract/MED/18176563

Gen Nishimura

3

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http://europepmc.org/abstract/MED/18176563

Masahito Irie

4

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http://europepmc.org/abstract/MED/18176563

Fumiko Kato

5

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Michiyo Okada

6

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http://europepmc.org/abstract/MED/18176563

Shunji Yamamori

7

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Hiroshi Kishimoto

8

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Masahiro Nakayama

9

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http://europepmc.org/abstract/MED/18176563

Yukichi Tanaka

10

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Kentarou Matsuoka

11

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http://europepmc.org/abstract/MED/18176563

Tsutomu Takahashi

12

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http://europepmc.org/abstract/MED/18176563

Mika Noguchi

13

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http://europepmc.org/abstract/MED/18176563

Yoko Tanaka

14

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Kouji Masumoto

15

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Takeshi Utsunomiya

16

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Hiroko Kouzan

17

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Yumiko Komatsu

18

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Hirofumi Ohashi

19

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Kenji Kurosawa

20

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Kenjirou Kosaki

21

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Anne C Ferguson-Smith

22

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Fumitoshi Ishino

23

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8 February 2018

http://europepmc.org/abstract/MED/18176563

Tsutomu Ogata

24

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8 February 2018

http://europepmc.org/abstract/MED/18176563

language of work or name

English

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publication date

6 January 2008

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8 February 2018

http://europepmc.org/abstract/MED/18176563

published in

Nature Genetics

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8 February 2018

http://europepmc.org/abstract/MED/18176563

volume

40

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8 February 2018

http://europepmc.org/abstract/MED/18176563

issue

2

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8 February 2018

http://europepmc.org/abstract/MED/18176563

page(s)

237-242

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8 February 2018

http://europepmc.org/abstract/MED/18176563

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Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting

1 reference

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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

21 January 2018

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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

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region.

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Epigenetic detection of human chromosome 14 uniparental disomy

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene

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7 January 2021

RNAi-Mediated Allelic trans-Interaction at the Imprinted Rtl1/Peg11 Locus

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7 January 2021

Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14.

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7 January 2021

Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

The regulation and biological significance of genomic imprinting in mammals

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7 January 2021

Imprinted genes in the placenta--a review

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7 January 2021

Complementation hypothesis: the necessity of a monoallelic gene expression mechanism in mammalian development.

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7 January 2021

Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19.

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7 January 2021

Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Type 3 deiodinase is critical for the maturation and function of the thyroid axis

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Aberrant regulation of imprinted gene expression in Gtl2lacZ mice

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation.

1 reference

https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes.

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https://api.crossref.org/works/10.1038%2FNG.2007.56

7 January 2021

Identifiers

DOI

10.1038/NG.2007.56

1 reference

8 February 2018

http://europepmc.org/abstract/MED/18176563

1 reference

8 February 2018