(Q34514307)

2 August 2017

Genotype-phenotype correlation in 22q11.2 deletion syndrome (English)

1 reference

genotype-phenotype correlation

2 August 2017

1 reference

1 reference

7

Lina Basel-Vanagaite

0 references

Abraham Weizman

object named as

Abraham Weizman

8

0 references

author name string

Elena Michaelovsky

1

1 reference

2 August 2017

Amos Frisch

2

1 reference

2 August 2017

Miri Carmel

3

1 reference

2 August 2017

Miriam Patya

4

1 reference

2 August 2017

Omer Zarchi

5

1 reference

2 August 2017

Tamar Green

6

1 reference

2 August 2017

Doron Gothelf

9

1 reference

2 August 2017

17 December 2012

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2 August 2017

1 reference

2 August 2017

13

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2 August 2017

122

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-13-122

2 August 2017

0 references

cites work

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Velo-Cardio-Facial Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Detailed analysis of 22q11.2 with a high density MLPA probe set

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

The schizophrenia phenotype in 22q11 deletion syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

The 22q11 deletion syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Velo-cardio-facial syndrome: a distinctive behavioral phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Microdeletion 22q11.2: clinical data and deletion size.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL): initial reliability and validity data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3548696

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

A novel atypical 22q11.2 distal deletion in father and son.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Association between polymorphism of the SNAP29 gene promoter region and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-122

Psychometric properties of the K-SADS-PL in an Israeli adolescent clinical population

21 January 2018

1 reference

12 December 2020

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture

1 reference

12 December 2020

Polymorphism in SNAP29 gene promoter region associated with schizophrenia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-13-122

1 reference

Dimensions Publication ID

2 August 2017

1033862844

0 references

Fatcat ID

release_7owel5avfjdp3bjygkrqtvvw5m

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7owel5avfjdp3bjygkrqtvvw5m

24 November 2022

mapped directly with Wikidata item

PMCID

3548696

1 reference

2 August 2017

1 reference