A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. (Q35195482)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

title

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

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stated in

Europe PubMed Central

PubMed publication ID

1349199

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7 August 2017

main subject

DiGeorge syndrome

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inferred from title

author name string

D A Driscoll

series ordinal

1

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stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

M L Budarf

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

B S Emanuel

series ordinal

3

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stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

language of work or name

English

0 references

publication date

1 May 1992

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Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

published in

American Journal of Human Genetics

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stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

volume

50

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stated in

Europe PubMed Central

PubMed publication ID

1349199

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7 August 2017

issue

5

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Europe PubMed Central

PubMed publication ID

1349199

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7 August 2017

page(s)

924-933

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Europe PubMed Central

PubMed publication ID

1349199

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7 August 2017

cites work

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

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PubMed Central

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13 July 2018

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

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PubMed Central

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13 July 2018

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

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PubMed Central

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13 July 2018

A genetic linkage map of the human genome.

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PubMed Central

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13 July 2018

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

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PubMed Central

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13 July 2018

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

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13 July 2018

The DiGeorge anomaly as a developmental field defect

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PubMed Central

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13 July 2018

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

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PubMed Central

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

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PubMed Central

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13 July 2018

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

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PubMed Central

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

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PubMed Central

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13 July 2018

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

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

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13 July 2018

Molecular studies of DiGeorge syndrome

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PubMed Central

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Di George anomaly and velocardiofacial syndrome.

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

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13 July 2018

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

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13 July 2018

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

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PubMed Central

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13 July 2018

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

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13 July 2018

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

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PubMed Central

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13 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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PubMed Central

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13 July 2018

Antenatal diagnosis of DiGeorge syndrome

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome and 22q11 rearrangements

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the supernumerary chromosome in cat eye syndrome

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

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Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1349199

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

based on heuristic

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/1349199

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12 December 2020

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A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1349199

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1682598

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

PubMed publication ID

1349199

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1349199

retrieved

7 August 2017

 

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