(Q24533160)

4 July 2017

title

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects (English)

1 reference

4 July 2017

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8

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4 July 2017

7

Jeffrey Towbin

1 reference

4 July 2017

Stephanie M Ware

1

1 reference

4 July 2017

Jianlan Peng

2

1 reference

4 July 2017

Lirong Zhu

3

1 reference

4 July 2017

Susan Fernbach

4

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4 July 2017

Suzanne Colicos

5

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4 July 2017

Brett Casey

6

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4 July 2017

language of work or name

English

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publication date

16 December 2003

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

74

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4 July 2017

issue

1

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4 July 2017

page(s)

93-105

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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Physical and functional interactions between Zic and Gli 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=1181916

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

X-linked situs abnormalities result from mutations in ZIC3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Establishment of vertebrate left-right asymmetry

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Conserved and divergent mechanisms in left-right axis formation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI 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=1181916

Genetics of human laterality disorders: insights from vertebrate model systems

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

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=1181916

Left-right asymmetry determination in vertebrates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Clinical aspects of defects in the determination of laterality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Embryological basis for cardiac left-right asymmetry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

A submicroscopic deletion in Xq26 associated with familial situs ambiguus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Polysplenia: a review of 146 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=1181916

Zic3 is involved in the left-right specification of the Xenopus embryo.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181916

Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures

29 November 2018

1 reference

12 December 2020

Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

1 reference

12 December 2020

Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both

1 reference

12 December 2020

Heterotaxy: associated conditions and hospital-based prevalence in newborns

1 reference

12 December 2020

Identifiers

DOI

10.1086/380998

1 reference

release_a46k2l7rtbftdddqwxlgbi6ln4

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

2284489

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference