A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

about

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

Item

http://www.wikidata.org/entity/Q42499236

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-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

2016年學術文章

@zh-hant

name

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@en

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@nl

type

Item

label

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@en

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@nl

prefLabel

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@en

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@nl

P1476

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.

@en

P2093

Kenji Kurosawa

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

Nozomi Matsuda

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

P2860

Variations in the pattern of pubertal changes in boys

Mutations of the KISS1 gene in disorders of puberty

MeCP2, a key contributor to neurological disease, activates and represses transcription

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

A GPR54-activating mutation in a patient with central precocious puberty.

De novo deletion in MECP2 in a monozygotic twin pair: a case report

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.

MeCP2 dysfunction in Rett syndrome and related disorders.

P304

271-276

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

P31

scholarly article

P356

10.1159/000449222

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

P433

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

P478

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

P50

Kenichi Kashimada

Tomohiro Morio

Atsumi Hosokawa Tsuji

P577

2016-09-21T00:00:00Z

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

P698

27649574

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