(Q54918709)

12 June 2018

title

The 22q11.2 deletion in African-American patients: an underdiagnosed population? (English)

1 reference

12 June 2018

author

Donna M McDonald-McGinn

1

object named as

Donna M McDonald-McGinn

1 reference

12 June 2018

Elizabeth Goldmuntz

7

object named as

Elizabeth Goldmuntz

1 reference

12 June 2018

author name string

Nancy Minugh-Purvis

2

1 reference

12 June 2018

Richard E Kirschner

3

1 reference

12 June 2018

Abbas Jawad

4

1 reference

12 June 2018

Melissa K Tonnesen

5

1 reference

12 June 2018

Jason R Catanzaro

6

1 reference

12 June 2018

Deborah Driscoll

8

1 reference

12 June 2018

Don Larossa

9

1 reference

12 June 2018

Beverly S Emanuel

10

1 reference

12 June 2018

Elaine H Zackai

11

1 reference

12 June 2018

language of work or name

English

0 references

publication date

1 April 2005

1 reference

12 June 2018

American Journal of Medical Genetics

published in

1 reference

12 June 2018

volume

134

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12 June 2018

page(s)

242-246

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12 June 2018

issue

3

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12 June 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Neural tube defects and deletions of 22q11.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Opitz GBBB syndrome and the 22q11.2 deletion.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

NCHS growth curves for children birth-18 years. United States

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810968

Normal values for selected physical parameters: an aid to syndrome delineation

30 November 2018

1 reference

12 December 2020

Phenotypic differerencss in African Americans with Prader-Willi syndrome

1 reference

12 December 2020

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region

1 reference

12 December 2020

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

1 reference

12 December 2020

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.30069

1 reference

12 June 2018

PMCID

2810968

1 reference

12 June 2018

PubMed ID

15754359

1 reference

12 June 2018