(Q34214613)

31 July 2017

title

Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease (English)

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31 July 2017

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6

Pippa M Simpson

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31 July 2017

9

James S Tweddell

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31 July 2017

Aoy Tomita-Mitchell

1

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31 July 2017

Donna K Mahnke

2

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31 July 2017

Joshua M Larson

3

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31 July 2017

Sujana Ghanta

4

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31 July 2017

Ying Feng

5

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31 July 2017

Ulrich Broeckel

7

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31 July 2017

Kelly Duffy

8

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31 July 2017

William J Grossman

10

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31 July 2017

John M Routes

11

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31 July 2017

Michael E Mitchell

12

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31 July 2017

publication date

15 June 2010

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31 July 2017

published in

Physiological Genomics

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31 July 2017

volume

42A

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31 July 2017

issue

1

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31 July 2017

page(s)

52-60

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

31 July 2017

cites work

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Microduplication 22q11.2: a new chromosomal syndrome

28 July 2018

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Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

28 July 2018

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Velo-cardio-facial syndrome: 30 Years of study

28 July 2018

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Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

28 July 2018

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

28 July 2018

1 reference

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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

28 July 2018

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

28 July 2018

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Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

28 July 2018

1 reference

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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

28 July 2018

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The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

28 July 2018

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Presenting phenotype in 100 children with the 22q11 deletion syndrome.

28 July 2018

1 reference

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Detection of large-scale variation in the human genome

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

DiGeorge syndrome: an update

28 July 2018

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The International HapMap Project

28 July 2018

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Role of TBX1 in human del22q11.2 syndrome

28 July 2018

1 reference

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A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

28 July 2018

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The human genome browser at UCSC

28 July 2018

1 reference

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22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

28 July 2018

1 reference

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Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

Isolation of a human lymphoblastoid line heterozygous at the thymidine kinase locus: Possibility for a rapid human cell mutation assay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

Approach to analysis of single nucleotide polymorphisms by automated constant denaturant capillary electrophoresis

28 July 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00073.2010

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00073.2010

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

21 January 2018

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00073.2010

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

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A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00073.2010

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00073.2010

The 22q11.2 deletion syndrome

21 January 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957771

Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.

28 October 2018

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Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

28 October 2018

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Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

21 January 2018

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12 December 2020

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study

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12 December 2020

A genetic etiology for interruption of the aortic arch type B

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12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

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12 December 2020

Duplication of the 22q11.2 region associated with congenital cardiac disease

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12 December 2020

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

1 reference

12 December 2020

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

1 reference

12 December 2020

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

1 reference

12 December 2020

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery

1 reference

12 December 2020

Statewide newborn screening for severe T-cell lymphopenia

1 reference

12 December 2020

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

1 reference

12 December 2020

10.1152/PHYSIOLGENOMICS.00073.2010

Identifiers

DOI

1 reference

31 July 2017

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31 July 2017

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