(Q33677903)

English

Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22. (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Reddy KS

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Sulcova V

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Siassi B

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 October 1996

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

852-855

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

DiGeorge syndrome: part of CATCH 22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

DiGeorge syndrome: an historical review of clinical and cytogenetic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050766

21 June 2018

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.10.852

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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