(Q35281043)

7 August 2017

title

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome (English)

1 reference

7 August 2017

0 references

congenital heart disease

1 reference

Jodi-Ann M Swaby

1

1 reference

7 August 2017

Candice K Silversides

2

1 reference

7 August 2017

Sean C Bekeschus

3

1 reference

7 August 2017

Sara Piran

4

1 reference

7 August 2017

Erwin N Oechslin

5

1 reference

7 August 2017

Eva W C Chow

6

1 reference

7 August 2017

Anne S Bassett

7

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7 August 2017

language of work or name

English

0 references

publication date

1 February 2011

1 reference

American Journal of Cardiology

7 August 2017

published in

1 reference

7 August 2017

volume

107

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7 August 2017

issue

3

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7 August 2017

page(s)

466-471

1 reference

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

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=3188300

Premature death in adults with 22q11.2 deletion syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Genetic factors in congenital heart malformation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

In vivo response to high-resolution variation of Tbx1 mRNA dosage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Comorbidity, healthcare utilisation and process of care measures in patients with congenital heart disease in the UK: cross-sectional, population-based study with case-control analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Transcription factors and congenital heart defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Role of TBX1 in human del22q11.2 syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

22q11 deletion syndrome: a genetic subtype of schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Phenotype of adults with the 22q11 deletion syndrome: A review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

A population study of chromosome 22q11 deletions in infancy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Congenital heart disease in the general population: changing prevalence and age distribution.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Clinical features of 78 adults with 22q11 Deletion Syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

22q11 deletion and polymicrogyria--cause or coincidence?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188300

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations

8 December 2018

1 reference

12 December 2020

Velopharyngeal incompetence and chromosome 22q11 deletion

1 reference

12 December 2020

Anatomic patterns of conotruncal defects associated with deletion 22q11

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

10.1016/J.AMJCARD.2010.09.045

Identifiers

DOI

1 reference

release_d7qsaulphjearogdxljmprcmje

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d7qsaulphjearogdxljmprcmje

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3188300

1 reference

7 August 2017

1 reference