(Q40775692)

23 September 2017

1 reference

title

DiGeorge syndrome: an historical review of clinical and cytogenetic features (English)

1 reference

23 September 2017

1 reference

Greenberg F

1

1 reference

23 September 2017

language of work or name

English

0 references

publication date

1 October 1993

1 reference

Journal of Medical Genetics

23 September 2017

1 reference

23 September 2017

30

1 reference

23 September 2017

10

1 reference

23 September 2017

803-806

1 reference

Velo-cardio-facial syndrome: a review of 120 patients.

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus)

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Contiguous gene syndromes: a component of recognizable syndromes

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Prediction of persistent immunodeficiency in the DiGeorge anomaly

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Mapping of the nu gene using congenic nude strains and in situ hybridization

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

The spectrum of the DiGeorge syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016558

Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome)

19 August 2018

1 reference

12 December 2020

Congenital absence of the parathyroid glands

1 reference

12 December 2020

Spectrum of the DiGeorge "syndrome"

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

12 December 2020

The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.10.803

1 reference

release_exbdtqamdncjfjreybdwjt37ju

23 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/exbdtqamdncjfjreybdwjt37ju

24 November 2022

mapped directly with Wikidata item

1 reference

23 September 2017

PubMed publication ID

8230154

1 reference