Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype (Q33905971)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12789647%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype (English)

1 reference

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4 November 2019

1 reference

3

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4 November 2019

8

Lynn B Jorde

1 reference

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4 November 2019

author name string

Anna-Marie E Brassington

1

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4 November 2019

Sandy S Sung

2

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4 November 2019

Trung Le

4

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4 November 2019

Amy D Roeder

5

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4 November 2019

Ann E Rutherford

6

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4 November 2019

Frank G Whitby

7

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4 November 2019

Michael J Bamshad

9

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4 November 2019

language of work or name

English

0 references

publication date

3 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12789647%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

73

1 reference

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4 November 2019

issue

1

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4 November 2019

page(s)

74-85

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Raster3D: photorealistic molecular graphics

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Raster3D Version 2.0. A program for photorealistic molecular graphics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Current advances in Holt-Oram syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Okihiro syndrome is caused by SALL4 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Epidemiology of cardiovascular malformations: prevalence and risk factors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

The mutation spectrum in Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Heart or hand? Unmasking the basis for specific Holt-Oram phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Variation in severity of cardiac disease in Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Holt-Oram syndrome: a clinical genetic study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Improved methods for building protein models in electron density maps and the location of errors in these models

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Annual summary of vital statistics-1997.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180592

Holt-Oram syndrome: is there a "face"?

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12789647

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12789647

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/376436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12789647%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12789647%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

12789647

1 reference