(Q57557296)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Masayo Kagami

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Shinji Saitoh

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1

Kana Hosoki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

4

Touju Tanaka

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

14 May 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

1019-1023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478039%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.90

7 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

Role for DNA methylation in genomic imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

Epigenetic detection of human chromosome 14 uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

7 January 2021

Placental hypoplasia in maternal uniparental disomy for chromosome 7

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

7 January 2021

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

7 January 2021

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.90

7 January 2021