(Q36068173)

12 August 2017

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population (English)

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12 August 2017

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congenital heart disease

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9

Cheryl L Maslen

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12 August 2017

Huiqing Li

1

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12 August 2017

Sheila Cherry

2

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12 August 2017

Donna Klinedinst

3

1 reference

12 August 2017

Valerie DeLeon

4

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12 August 2017

Jennifer Redig

5

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12 August 2017

Benjamin Reshey

6

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12 August 2017

Michael T Chin

7

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12 August 2017

Stephanie L Sherman

8

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12 August 2017

Roger H Reeves

10

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12 August 2017

language of work or name

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20 April 2012

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Circulation: Cardiovascular Genetics

12 August 2017

1 reference

12 August 2017

5

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12 August 2017

3

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12 August 2017

301-308

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A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Heterogeneity of genetic modifiers ensures normal cardiac development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

PCR prescreen for genotyping the Ts65Dn mouse model of Down syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

The power of comparative and developmental studies for mouse models of Down syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

DNER acts as a neuron-specific Notch ligand during Bergmann glial development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

dlk acts as a negative regulator of Notch1 activation through interactions with specific EGF-like repeats.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Molecular genetics of atrioventricular septal defects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Hey genes in cardiovascular development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Jagged: a mammalian ligand that activates Notch1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Novel CRELD1 gene mutations in patients with atrioventricular septal defect

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

A mouse model for Down syndrome exhibits learning and behaviour deficits.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

21 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3386785

5 December 2018

1 reference

12 December 2020

1 reference

12 December 2020

Integration of Cytogenetic with Recombinational and Physical Maps of Mouse Chromosome 16

1 reference

12 December 2020

HEY2 mutations in malformed hearts

1 reference

12 December 2020

The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation

1 reference

12 December 2020

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

1 reference

12 December 2020

10.1161/CIRCGENETICS.111.960872

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22523272

1 reference