A deletion in chromosome 22 can cause DiGeorge syndrome (Q70827940)

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scientific article published on 01 January 1981

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Language	Label	Description	Also known as
English	A deletion in chromosome 22 can cause DiGeorge syndrome	scientific article published on 01 January 1981

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

title

A deletion in chromosome 22 can cause DiGeorge syndrome (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

main subject

DiGeorge syndrome

1 reference

based on heuristic

inferred from title

author

Albert de la Chapelle

series ordinal

1

object named as

A de la Chapelle

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

author name string

R Herva

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

M Koivisto

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

P Aula

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

publication date

1 January 1981

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

volume

57

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

issue

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

page(s)

253-256

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

cites work

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monosomy of chromosome No. 22. A case report.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the committee on the genetic constitution of chromosomes 13, 14, 15, 16, 17, 18, 19, 20, 21, and 22.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome deletion and multiple cartilaginous exostoses

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of the DiGeorge syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Foetal thymic transplant in a case of Digeorge's syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome(s)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental terms—some proposals: First report of an International working group

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7250965

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00278938

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

PubMed publication ID

7250965

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7250965

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7250965%20AND%20SRC:MED&resulttype=core&format=json

retrieved

14 October 2019

 

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