Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus (Q34373526)

1 August 2017

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title

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

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1 August 2017

P Stankiewicz

1

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H Thiele

2

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C Baldermann

3

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A Krüger

4

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I Giannakudis

5

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S Dörr

6

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N Werner

7

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J Kunz

8

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G A Rappold

9

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I Hansmann

10

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publication date

1 September 2001

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American Journal of Medical Genetics Part A

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published in

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volume

103

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issue

1

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page(s)

56-62

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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

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cites work

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De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).

21 January 2018

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Mutations of the TWIST gene in the Saethre-Chotzen syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications

21 January 2018

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

21 January 2018

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

21 January 2018

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Trisomy 7p resulting from isochromosome formation and whole-arm translocation

21 January 2018

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Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

21 January 2018

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Emerging phenotype of duplication (7p): a report of three cases and review of the literature

21 January 2018

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A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

21 January 2018

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Molecular genetics of craniosynostotic syndromes

21 January 2018

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

21 January 2018

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

21 January 2018

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Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.

21 January 2018

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21 January 2018

A TWIST in development

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

21 January 2018

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Inhibition of myogenic bHLH and MEF2 transcription factors by the bHLH protein Twist

21 January 2018

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Craniosynostosis: genes and mechanisms

21 January 2018

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Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-?

21 January 2018

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Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

21 January 2018

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Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1512

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1 August 2017

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