Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases (Q71088352)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8634784%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8634784%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

R S Larson

series ordinal

1

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16 October 2019

M G Butler

series ordinal

2

1 reference

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16 October 2019

publication date

1 December 1995

1 reference

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Diagnostic Molecular Pathology

16 October 2019

published in

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16 October 2019

volume

4

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16 October 2019

issue

4

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16 October 2019

page(s)

274-278

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A prospective cytogenetic study of 36 cases of DiGeorge syndrome

16 October 2019

cites work

1 reference

12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

12 December 2020

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

1 reference

12 December 2020

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

1 reference

12 December 2020

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

1 reference

12 December 2020

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

12 December 2020

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

1 reference

12 December 2020

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

1 reference

12 December 2020

DiGeorge syndrome: part of CATCH 22.

1 reference

12 December 2020

Identifiers

1 reference

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16 October 2019

PubMed publication ID

8634784

1 reference