(Q33608610)

28 July 2017

title

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum (English)

1 reference

28 July 2017

Sintia Iole Nogueira

1

1 reference

28 July 2017

April M Hacker

2

1 reference

28 July 2017

Fernanda T S Bellucco

3

1 reference

28 July 2017

Denise M Christofolini

4

1 reference

28 July 2017

Leslie Domenici Kulikowski

5

1 reference

28 July 2017

Mirlene C S P Cernach

6

1 reference

28 July 2017

Beverly S Emanuel

7

1 reference

28 July 2017

Maria Isabel Melaragno

8

1 reference

28 July 2017

publication date

8 February 2008

1 reference

European Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

51

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

226-230

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Prevalence of 22q11 microdeletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

A novel 22q11.2 microdeletion in DiGeorge syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810959

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18342595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18342595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18342595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.EJMG.2008.02.001

1 reference

28 July 2017

1 reference

28 July 2017

1 reference