A submicroscopic deletion in Xq26 associated with familial situs ambiguus (Q35249206)

7 August 2017

title

A submicroscopic deletion in Xq26 associated with familial situs ambiguus (English)

1 reference

7 August 2017

3

G Pilia

1 reference

7 August 2017

G B Ferrero

1

1 reference

7 August 2017

M Gebbia

2

1 reference

7 August 2017

D Witte

4

1 reference

7 August 2017

A Peier

5

1 reference

7 August 2017

R J Hopkin

6

1 reference

7 August 2017

W J Craigen

7

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7 August 2017

L G Shaffer

8

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7 August 2017

D Schlessinger

9

1 reference

7 August 2017

A Ballabio

10

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7 August 2017

B Casey

11

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7 August 2017

language of work or name

English

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publication date

1 August 1997

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

61

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7 August 2017

issue

2

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7 August 2017

page(s)

395-401

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Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Relationship between asymmetric nodal expression and the direction of embryonic turning

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

HNF-3 beta is essential for node and notochord formation in mouse development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Molecular characterization of de novo secondary trisomy 13.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Different phenotypes for mice deficient in either activins or activin receptor type II

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Expression of activin subunits, activin receptors and follistatin in postimplantation mouse embryos suggests specific developmental functions for different activins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Distinct expression and shared activities of members of the hedgehog gene family of Xenopus laevis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

The spectrum of heterotaxic syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Sequence identification of 2,375 human brain genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Embryonic expression and functional analysis of a Xenopus activin receptor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)].

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Molecular cloning of Xenopus activin type I receptor and the analysis of its expression during embryogenesis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

Heterotaxia syndrome and autosomal dominant inheritance.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715914

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

26 September 2018

1 reference

12 December 2020

X-linked laterality sequence in a family with carrier manifestations

1 reference

12 December 2020

A molecular pathway determining left-right asymmetry in chick embryogenesis

1 reference

12 December 2020

Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts

1 reference

12 December 2020

YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers

1 reference

12 December 2020

Autosomal dominant transmission of familial laterality defects

1 reference

12 December 2020

Identifiers

DOI

10.1086/514857

1 reference

7 August 2017

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7 August 2017

1 reference