(Q35195482)

7 August 2017

title

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

1 reference

7 August 2017

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D A Driscoll

1

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7 August 2017

M L Budarf

series ordinal

2

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7 August 2017

B S Emanuel

series ordinal

3

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7 August 2017

language of work or name

English

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publication date

1 May 1992

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

50

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7 August 2017

issue

5

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7 August 2017

page(s)

924-933

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

The William Allan Memorial Award address: Thalassemia: molecular mechanism and detection

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

A genetic linkage map of the human genome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

The DiGeorge anomaly as a developmental field defect

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

A highly polymorphic locus in human DNA revealed by cosmid-derived probes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Toward a long-range map of human chromosomal band 22q11.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

A genetic linkage map of the long arm of human chromosome 22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Molecular studies of DiGeorge syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Di George anomaly and velocardiofacial syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682598

Antenatal diagnosis of DiGeorge syndrome

13 July 2018

1 reference

12 December 2020

DiGeorge syndrome and 22q11 rearrangements

1 reference

12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

1 reference

12 December 2020

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

12 December 2020

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

1 reference

12 December 2020

Linear order of the four BCR-related loci in 22q11

1 reference

12 December 2020

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

1 reference

12 December 2020

Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Identifiers

PMC publication ID

1682598

1 reference

7 August 2017

1 reference