(Q35388414)

8 August 2017

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients (English)

1 reference

8 August 2017

1 reference

15

1 reference

8 August 2017

Jonathan Chung

19

0 references

Bernice E. Morrow

Bernice Morrow

33

0 references

Marcella Devoto

Marcella Devoto

27

0 references

Elaine Zackai

29

Elaine Zackai

1 reference

8 August 2017

Donna M McDonald-McGinn

2

Donna McDonald-McGinn

1 reference

8 August 2017

28

Elizabeth Goldmuntz

1 reference

8 August 2017

Tingwei Guo

1

1 reference

8 August 2017

Anna Blonska

3

1 reference

8 August 2017

Alan Shanske

4

1 reference

8 August 2017

Anne S Bassett

5

1 reference

8 August 2017

Eva Chow

6

1 reference

8 August 2017

Mark Bowser

7

1 reference

8 August 2017

Molly Sheridan

8

1 reference

8 August 2017

Frits Beemer

9

1 reference

8 August 2017

Koen Devriendt

10

1 reference

8 August 2017

Ann Swillen

11

1 reference

8 August 2017

Jeroen Breckpot

12

1 reference

8 August 2017

Maria C Digilio

13

1 reference

8 August 2017

Bruno Marino

14

1 reference

8 August 2017

Courtney Carpenter

16

1 reference

8 August 2017

Xin Zheng

17

1 reference

8 August 2017

Jacob Johnson

18

1 reference

8 August 2017

Anne Marie Higgins

20

1 reference

8 August 2017

Nicole Philip

21

1 reference

8 August 2017

Tony J Simon

22

1 reference

8 August 2017

Karlene Coleman

23

1 reference

8 August 2017

Damian Heine-Suner

24

1 reference

8 August 2017

Jordi Rosell

25

1 reference

8 August 2017

Wendy Kates

26

1 reference

8 August 2017

Tao Wang

30

1 reference

8 August 2017

Robert Shprintzen

31

1 reference

8 August 2017

Beverly Emanuel

32

1 reference

8 August 2017

International Chromosome 22q11.2 Consortium

34

1 reference

8 August 2017

16 September 2011

1 reference

8 August 2017

1 reference

8 August 2017

32

1 reference

8 August 2017

1278-1289

1 reference

8 August 2017

11

1 reference

A map of human genome variation from population-scale sequencing

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Human genetic variation and its contribution to complex traits

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Congenital heart defects and fetal alcohol spectrum disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

In vivo response to high-resolution variation of Tbx1 mRNA dosage

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Fgf8 is required for anterior heart field development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Haploview: analysis and visualization of LD and haplotype maps

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Role of TBX1 in human del22q11.2 syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

The allelic architecture of human disease genes: common disease-common variant... or not?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Accounting for human polymorphisms predicted to affect protein function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Are rare variants responsible for susceptibility to complex diseases?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Predicting deleterious amino acid substitutions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Molecular studies of DiGeorge syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Cardiovascular defects associated with alcohol, retinoic acid, and other agents

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Practical guidelines for managing patients with 22q11.2 deletion syndrome

27 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Developmental genetics of the heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Identification of downstream genetic pathways of Tbx1 in the second heart field

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Microduplication and triplication of 22q11.2: a highly variable syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Galaxy: a web-based genome analysis tool for experimentalists

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

A genetic link between Tbx1 and fibroblast growth factor signaling.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Phenotypic discordance in monozygotic twins with 22q11.2 deletion.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196824

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1

26 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

Congenital heart disease in mice deficient for the DiGeorge syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21568

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes

21 January 2018

1 reference

12 December 2020

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion

1 reference

12 December 2020

De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization

1 reference

12 December 2020

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21568

1 reference

release_fxiq2wfxnvddpbgkafqqo5qrci

8 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fxiq2wfxnvddpbgkafqqo5qrci

24 November 2022

mapped directly with Wikidata item

PMCID

3196824

1 reference

8 August 2017

1 reference