(Q24532094)

20 October 2023

3

Elizabeth Goldmuntz

Elizabeth

Goldmuntz

1 reference

20 October 2023

7

Cheryl L Maslen

Cheryl L

Maslen

1 reference

20 October 2023

Susan W Robinson

1

Susan W

Robinson

1 reference

20 October 2023

Cynthia D Morris

series ordinal

2

author given names

Cynthia D

author last names

Morris

1 reference

20 October 2023

Mark D Reller

series ordinal

4

author given names

Mark D

author last names

Reller

1 reference

20 October 2023

Melanie A Jones

series ordinal

5

author given names

Melanie A

author last names

Jones

1 reference

American Journal of Human Genetics

20 October 2023

language of work or name

English

0 references

publication date

April 2003

0 references

published in

0 references

volume

72

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issue

4

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page(s)

1047-52

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cites work

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Detailed mapping of a congenital heart disease gene in chromosome 3p25

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Cardiac morphogenesis and dysmorphogenesis. I. Normal development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Congenital Heart Surgery Nomenclature and Database Project: atrioventricular canal defect

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Marfan Database (third edition): new mutations and new routines for the software

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Familial atrioventricular septal defect: possible genetic mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Molecular regulation of atrioventricular valvuloseptal morphogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Endocardial cushion tissue development: structural analyses on the attachment of extracellular matrix to migrating mesenchymal cell surfaces

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Evidence of congenital heart disease in the offspring of parents with atrioventricular defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Two infants with del(3)(p25pter) and a review of previously reported cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Molecular genetic analysis of the 3p- syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Down syndrome congenital heart disease: a narrowed region and a candidate gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180336

Autosomal dominant inheritance of endocardial cushion defect

29 November 2018

1 reference

12 December 2020

Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21

1 reference

12 December 2020

The human gene mutation database

1 reference

12 December 2020

Genetic aspects of atrioventricular septal defects

1 reference

12 December 2020

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Identifiers

DOI

10.1086/374319

0 references

Fatcat ID

0 references

PMC publication ID

1180336

0 references