Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes (Q82417683)

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16 January 2020

title

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes (English)

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16 January 2020

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6

Reiko Horikawa

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16 January 2020

author name string

Kazuki Yamazawa

1

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16 January 2020

Kazuhiko Nakabayashi

2

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16 January 2020

Kentaro Matsuoka

3

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16 January 2020

Keiko Masubara

4

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16 January 2020

Kenichiro Hata

5

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16 January 2020

Tsutomu Ogata

7

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publication date

11 November 2010

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16 January 2020

number of pages

3

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Journal of Human Genetics

inferred from page(s)

published in

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volume

56

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16 January 2020

issue

1

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16 January 2020

page(s)

91-93

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https://scigraph.springernature.com/pub.10.1038/jhg.2010.142

16 January 2020

exact match

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cites work

Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Completion of mouse embryogenesis requires both the maternal and paternal genomes

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Placentomegaly in paternal uniparental disomy for human chromosome 14

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Establishment of an optimized set of 406 microsatellite markers covering the whole genome for the Japanese population

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https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Complex and segmental uniparental disomy updated

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Limited evolutionary conservation of imprinting in the human placenta

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.142

7 January 2021

Disruption of parental-specific expression of imprinted genes in uniparental fetuses.

1 reference

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7 January 2021

Identifiers

DOI

10.1038/JHG.2010.142

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21068742%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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