Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

about

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

P2860

Q53709803-D24519F9-75F3-4723-BB68-3D34678C25E2

P2860

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Item

http://www.wikidata.org/entity/Q50904507

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@en

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@nl

type

Item

label

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@en

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@nl

prefLabel

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@en

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@nl

P1476

Beckwith-Wiedemann syndrome an ...... a female-dominant phenomenon?

@en

P2093

Kazuhiko Nakabayashi

http://www.w3.org/2001/XMLSchema#string

Keiko Matsubara

http://www.w3.org/2001/XMLSchema#string

Kenichiro Hata

http://www.w3.org/2001/XMLSchema#string

Maki Fukami

http://www.w3.org/2001/XMLSchema#string

Shinichiro Sano

http://www.w3.org/2001/XMLSchema#string

Toru Kikuchi

http://www.w3.org/2001/XMLSchema#string

P2860

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

An atypical case of hypomethylation at multiple imprinted loci.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Imprinting errors and developmental asymmetry.

P2888

jhg.2016.45

P304

765-769

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/JHG.2016.45

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Keisuke Nagasaki

M Kagami

Tsutomu Ogata

P577

2016-04-28T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27121328

http://www.w3.org/2001/XMLSchema#string

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

about

P2860

P2860

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698