(Q77628884)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840485%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Association of tetralogy of Fallot with a distinct region of del22q11.2. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840485%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

Gania Kessler-Icekson

1

1 reference

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7 December 2019

Einat Birk

2

1 reference

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7 December 2019

Ari Y Weintraub

3

1 reference

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7 December 2019

Yael Barhum

4

1 reference

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7 December 2019

Violetta Kotlyar

5

1 reference

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7 December 2019

Hadassa Schlesinger

6

1 reference

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7 December 2019

Rivka Rockah

7

1 reference

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7 December 2019

Bernardo A Vidne

8

1 reference

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7 December 2019

Amos Frisch

9

1 reference

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7 December 2019

publication date

1 February 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840485%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

7 December 2019

published in

1 reference

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7 December 2019

volume

107

1 reference

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7 December 2019

issue

4

1 reference

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7 December 2019

page(s)

294-298

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840485%20AND%20SRC:MED&resulttype=core&format=json

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Early onset of gastric carcinoma and constitutional deletion of 18p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Congenital heart defect in sibs with discordant karyotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

PCR assay for screening patients at risk for 22q11.2 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

The DNA sequence of human chromosome 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Natural history of mosaic trisomy 14 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Frequency of 22q11 deletions in patients with conotruncal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Chromosome abnormalities in congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Jagged1 mutations in patients ascertained with isolated congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Another critical region for deletion of 22q11: a study of 100 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Congenital heart defects and 22q11 deletions: which genes count?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Frequent association of 22q11.2 deletion with tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Advances in the molecular genetics of congenital structural heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Microdeletion 22q11 in complex cardiovascular malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

A novel 22q11.2 microdeletion in DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Chromosome 22q11 microdeletions in tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10166

21 January 2018

Identifiers

DOI

10.1002/AJMG.10166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11840485%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference