(Q57269533)

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Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

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Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome (English)

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John Belmont

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Cheryl L Maslen

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3

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Cheryl L Maslen

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author name string

Samaneh Zhian

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1

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language of work or name

English

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publication date

August 2012

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published in

American Journal of Medical Genetics

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volume

158A

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issue

8

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page(s)

2047-9

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cites work

Situs revisited: imaging of the heterotaxy syndrome

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Molecular genetics of heterotaxy syndromes

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Novel CRELD1 gene mutations in patients with atrioventricular septal defect

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Disorders of left-right asymmetry: heterotaxy and situs inversus

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.35457

retrieved

21 January 2018

A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3402694

retrieved

2 November 2018

Heterotaxy: associated conditions and hospital-based prevalence in newborns

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22740159

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Heart development and the genetic aspects of cardiovascular malformations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22740159

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PubMed publication ID

22740159

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(Q57269533)

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

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