Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients (Q35388414)

8 August 2017

title

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

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15

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Jonathan Chung

19

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Bernice E. Morrow

Bernice Morrow

33

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Marcella Devoto

Marcella Devoto

27

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Elaine Zackai

29

Elaine Zackai

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Donna M McDonald-McGinn

2

Donna McDonald-McGinn

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28

Elizabeth Goldmuntz

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Tingwei Guo

1

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Anna Blonska

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Alan Shanske

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Anne S Bassett

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Eva Chow

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Mark Bowser

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Molly Sheridan

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Frits Beemer

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Koen Devriendt

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Ann Swillen

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Jeroen Breckpot

12

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Maria C Digilio

13

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Bruno Marino

14

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Courtney Carpenter

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Xin Zheng

17

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Jacob Johnson

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Anne Marie Higgins

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Nicole Philip

21

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Tony J Simon

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Karlene Coleman

23

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Damian Heine-Suner

24

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Jordi Rosell

25

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Wendy Kates

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Tao Wang

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Robert Shprintzen

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Beverly Emanuel

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International Chromosome 22q11.2 Consortium

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publication date

16 September 2011

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volume

32

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issue

11

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8 August 2017

page(s)

1278-1289

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A map of human genome variation from population-scale sequencing

8 August 2017

cites work

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

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27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

27 July 2018

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27 July 2018

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

27 July 2018

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Role of TBX1 in human del22q11.2 syndrome

27 July 2018

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

27 July 2018

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27 July 2018

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

27 July 2018

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27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

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27 July 2018

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27 July 2018

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

27 July 2018

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

27 July 2018

1 reference

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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

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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

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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

Fatcat ID

1 reference

Fatcat

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

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3196824

1 reference

8 August 2017

1 reference