(Q34389384)

1 August 2017

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. (English)

1 reference

ORCID Public Data File 2021

1 August 2017

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author name string

Devriendt K

1

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1 August 2017

Matthijs G

2

1 reference

1 August 2017

Van Dael R

3

1 reference

1 August 2017

Gewillig M

4

1 reference

1 August 2017

Eyskens B

5

1 reference

1 August 2017

Hjalgrim H

6

1 reference

1 August 2017

Dolmer B

7

1 reference

1 August 2017

McGaughran J

8

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1 August 2017

Bröndum-Nielsen K

9

1 reference

1 August 2017

Marynen P

10

1 reference

1 August 2017

Fryns JP

11

1 reference

1 August 2017

Vermeesch JR

12

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1 August 2017

language of work or name

English

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publication date

1 April 1999

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American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

64

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1 August 2017

1119-1126

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1 August 2017

4

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Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Assignment of the human GATA4 gene to 8p23.1-->p22 using fluorescence in situ hybridization analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

DiGeorge syndrome: part of CATCH 22.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Toward a molecular understanding of congenital heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Deficiency of chromosome 8p21.1----8pter: case report and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

San Luis Valley Recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Distal 8p deletion (8p23.1----8pter): a common deletion?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Nonrandom association of atrioventricular canal and del (8p) syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Sex-dependent rearrangements resulting in CMT1A and HNPP.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377836

Atrioventricular canal and 8p- syndrome

27 October 2018

1 reference

PubMed

12 December 2020

Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

High-resolution in situ hybridization using DNA halo preparations

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1086/302330

1 reference

1 August 2017

1 reference

1 August 2017

1 reference