(Q34197953)

31 July 2017

title

DiGeorge Syndrome: a not so rare disease (English)

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31 July 2017

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1 reference

3

Chong Ae Kim

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31 July 2017

Angela B F Fomin

1

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31 July 2017

Antonio Carlos Pastorino

2

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31 July 2017

C A Pereira

4

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31 July 2017

Magda Carneiro-Sampaio

5

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31 July 2017

Cristina Miuki Abe-Jacob

6

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31 July 2017

publication date

1 January 2010

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31 July 2017

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31 July 2017

volume

65

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31 July 2017

issue

9

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31 July 2017

page(s)

865-869

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

31 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=2954737

The facial phenotype of the velo-cardio-facial syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Velo-cardio-facial syndrome: 30 Years of study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Role of TBX1 in human del22q11.2 syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

A population study of chromosome 22q11 deletions in infancy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Velo-cardio-facial syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2954737

Statewide newborn screening for severe T-cell lymphopenia

28 October 2018

1 reference

12 December 2020

Long-term assessment of T-cell populations in DiGeorge syndrome

1 reference

12 December 2020

Primary immunodeficiency diseases: a presentation of 6 cases

1 reference

12 December 2020

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

PCR screening for 22q11.2 microdeletion: development of a new cost-effective diagnostic tool

1 reference

12 December 2020

10.1590/S1807-59322010000900009

Identifiers

DOI

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31 July 2017

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31 July 2017

1 reference