46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

about

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies In vivo and in vitro disease modeling with CRISPR/Cas9.

P2860

Q28254194-F3CD4D81-9003-4F14-8278-F0D37A243E3F Q38920337-9D740A86-F6CD-4B4A-AF30-AC85E67F17AA

P2860

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Item

http://www.wikidata.org/entity/Q51364287

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年学术文章

@wuu

2012年学术文章

@zh

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

2012年學術文章

@zh-hant

name

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@en

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@nl

type

Item

label

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@en

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@nl

prefLabel

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@en

46, XY gonadal dysgenesis: new ...... paternal germ line mosaicism.

@nl

P1476

46, XY gonadal dysgenesis: new ...... h paternal germ line mosaicism

@en

P2093

C L Deal

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

D Francoeur

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

J Paquette

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

J-M Vuissoz

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

M E Samuels

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

N Patey

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

S Stoppa-Vaucher

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

T Ayabe

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

P2860

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation

Prediction of deleterious human alleles

TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells.

The molecular anatomy of spontaneous germline mutations in human testes.

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer.

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

A familial mutation in the testis-determining gene SRY shared by both sexes.

Germ line mosaicism.

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

P304

505-513

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

P31

scholarly article

P356

10.1111/J.1399-0004.2011.01832.X

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

P433

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

P478

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

P50

Tsutomu Ogata

Johnny Deladoëy

P577

2012-01-30T00:00:00Z

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

P698

22288726

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

P921

sibling

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

about

P2860

P2860

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921