Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. - Wikidata - wikimedia - TriplyDB

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

http://www.wikidata.org/entity/Q34373526

about

The histone deacetylase 9 gene encodes multiple protein isoforms A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 Neuroprotection by histone deacetylase-related protein.De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.ALX4 gain-of-function mutations in nonsyndromic craniosynostosis Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.

P2860

Q24294872-CFBC2257-0D65-4710-BFD9-B5B11F5C8229 Q28943389-F162E971-C6A3-4086-848F-C25359EA516D Q34564841-8C0D31CD-9E8C-44CB-9B1D-F4E684262DA1 Q35352821-547581CF-3E48-4BC6-9138-D90660E7F336 Q36392637-85E0BF56-4DE7-4182-ACE0-F1CACD8BF070 Q37609839-C1923F54-5E68-47F0-9B71-B926FF069656

P2860

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

http://www.wikidata.org/entity/Q34373526

description

2001 nî lūn-bûn

@nan

2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@ast

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@en

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@nl

type

label

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@ast

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@en

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@nl

prefLabel

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@ast

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@en

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@nl

P1433

Q34373526-1FF273F7-65A5-442E-81FB-49FE720C5BA3

P1476

Q34373526-2DB93DE4-1F83-4925-BF16-9C49A3E23BA5

P2093

Q34373526-0D0D1CD1-2F6E-4874-BBC3-2F74AFBC3BAA

Q34373526-18C9ED6B-88FC-4D18-8F49-1A7B31A95E71

Q34373526-49B7C9B4-9BF2-41BF-AC28-695907F4BFE9

Q34373526-66A685A4-A344-4130-959B-1D60F42F772B

Q34373526-7AB975E9-70D9-43B7-A546-E04BD492E75C

Q34373526-81FB1747-BC84-4F17-8187-9F9D57C49133

Q34373526-A0CB3CF0-2680-46BC-844B-E16D5B259AB4

Q34373526-CE9E7D1C-1EBF-43C3-A114-9602D3A70FD7

Q34373526-EECC63E6-6ADC-413D-AEE3-3768D8043C79

Q34373526-F1055141-FD1C-4231-A9A8-E509290492BB

P2860

Q34373526-00816E7A-0135-4DE6-9D09-2109C3F339D8

Q34373526-034DCB90-508D-4710-B00A-8907B6E7C56E

Q34373526-2F0E3C35-762B-4DED-8F3F-73A7FCD3B1E5

Q34373526-4104EF28-1607-4F05-8326-3BF88F311C7E

Q34373526-48A9733E-A508-4CCE-8703-3C1FDAA9F412

Q34373526-4D5E03E6-DE2E-4928-B43F-59A6A66EBFA7

Q34373526-4FB54EB6-31BA-4E56-A06D-D371032760ED

Q34373526-5584F245-86D6-43F0-ADF1-9A5D69A09634

Q34373526-6150B570-2859-4723-947A-1EFCFC70537D

Q34373526-65BF3056-705A-4B59-9AD7-E7563599BB35

P304

Q34373526-0F950A04-BEB5-4BB9-8291-24E5C896F5AB

P31

Q34373526-AFEDDEBA-E1C0-4B29-8509-9B27F5DFF95D

P356

Q34373526-440027E3-94D1-4DC4-96D3-5C2A79158D9B

P433

Q34373526-855B8075-F8ED-4AF5-8D9B-0DF9CE473EAF

P478

Q34373526-A95F7883-E05E-4DF6-B615-9E74C08075B7

P577

Q34373526-63B946C7-3316-4B17-9D77-AF448AC3CA74

P698

Q34373526-A321347E-F649-4D41-BE6A-8A54C834DA75

P356

P1433

American Journal of Medical Genetics Part A

P1476

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

@en

P2093

A Krüger

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

C Baldermann

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

G A Rappold

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

H Thiele

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

I Giannakudis

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

I Hansmann

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

J Kunz

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

N Werner

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

P Stankiewicz

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

S Dörr

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

P2860

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere

TWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineage

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

P304

56-62

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

P31

scholarly article

P356

10.1002/AJMG.1512

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

P433

1

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

P478

103

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

P577

2001-09-01T00:00:00Z

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

P698

11562935

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