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Congenital heart disease: emerging themes linking genetics and development
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scholarly article
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PubMed
title
Congenital heart disease: emerging themes linking genetics and development
(English)
1 reference
stated in
PubMed
main subject
congenital disorder
0 references
congenital heart disease
1 reference
based on heuristic
inferred from title
author name string
Shiaulou Yuan
series ordinal
1
1 reference
stated in
Crossref
Samir Zaidi
series ordinal
2
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Crossref
Martina Brueckner
series ordinal
3
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Crossref
language of work or name
English
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stated in
PubMed
publication date
June 2013
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PubMed
published in
Current Opinion in Genetics & Development
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stated in
PubMed
volume
23
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PubMed
issue
3
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PubMed
page(s)
352-9
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PubMed
cites work
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Genetics of congenital heart disease: the glass half empty
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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
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A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
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Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
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Mutations in NOTCH1 cause aortic valve disease
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
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Congenital heart disease caused by mutations in the transcription factor NKX2-5
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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
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Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis
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A bivalent chromatin structure marks key developmental genes in embryonic stem cells
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Functional genetic analysis of mouse chromosome 11
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A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia
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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
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The Congenital Heart Disease Genetic Network Study: rationale, design, and early results
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Loss of the ciliary kinase Nek8 causes left-right asymmetry defects
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Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
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Rare copy number variants contribute to congenital left-sided heart disease
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Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
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NPHP4 variants are associated with pleiotropic heart malformations
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Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
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Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.
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28 September 2017
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
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PubMed Central
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28 September 2017
Myocardial lineage development
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PubMed Central
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28 September 2017
The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish
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The changing epidemiology of congenital heart disease
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28 September 2017
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
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28 September 2017
Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005.
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28 September 2017
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
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28 September 2017
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
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28 September 2017
Reversal of left-right asymmetry: a situs inversus mutation.
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28 September 2017
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy
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Nek2 localises to the distal portion of the mother centriole/basal body and is required for timely cilium disassembly at the G2/M transition.
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31 May 2018
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.
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28 November 2018
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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28 November 2018
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
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12 December 2020
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GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
1 reference
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12 December 2020
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Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
1 reference
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Recurrence of Congenital Heart Defects in Families
1 reference
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reference URL
https://pubmed.ncbi.nlm.nih.gov/23790954
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12 December 2020
based on heuristic
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Identifiers
DOI
10.1016/J.GDE.2013.05.004
0 references
PMC publication ID
4154700
1 reference
stated in
PubMed
PubMed publication ID
23790954
1 reference
stated in
PubMed
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