(Q52652397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions (English)

1 reference

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10 March 2020

2

1 reference

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10 March 2020

Joseph Glessner

4

1 reference

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10 March 2020

7

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

6

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Peter S White

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Petra Werner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Brande Latney

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

26 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

Birth Defects Research Part A: Clinical and Molecular Teratology

10 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

12

1 reference

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10 March 2020

page(s)

951-964

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25066379%20AND%20SRC:MED&resulttype=core&format=json

The PIAS-like protein Zimp10 is essential for embryonic viability and proper vascular development

10 March 2020

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Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse

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Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

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Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy

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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

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Rare structural variation of synapse and neurotransmission genes in autism

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The role of PKCε-dependent signaling for cardiac differentiation.

21 January 2018

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Mutations in NOTCH1 cause aortic valve disease

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

21 January 2018

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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

21 January 2018

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Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

21 January 2018

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High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

21 January 2018

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

21 January 2018

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Hypoplastic left heart syndrome is heritable

21 January 2018

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Rare copy number variants contribute to congenital left-sided heart disease

21 January 2018

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A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?

21 January 2018

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Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

21 January 2018

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Mammalian formin Fhod3 plays an essential role in cardiogenesis by organizing myofibrillogenesis

21 January 2018

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21 January 2018

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21 January 2018

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The integrin alpha10 subunit: expression pattern, partial gene structure, and chromosomal localization.

21 January 2018

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Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

21 January 2018

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Pinch1 is required for normal development of cranial and cardiac neural crest-derived structures.

21 January 2018

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The secondary heart field is a new site of calcineurin/Nfatc1 signaling for semilunar valve development

21 January 2018

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Detection and characterization of copy number variation in autism spectrum disorder

21 January 2018

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Deficiency of thioredoxin binding protein-2 (TBP-2) enhances TGF-β signaling and promotes epithelial to mesenchymal transition

21 January 2018

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Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

21 January 2018

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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

21 January 2018

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Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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