DiGeorge Syndrome

Known as: Digeorge's syndrome, digeorges syndrome, digeorge syndromes 
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to… (More)

Topic mentions per year

Topic mentions per year

1949-2018
05019492017

Papers overview

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Highly Cited
2014
Highly Cited
2014
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically… (More)
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Highly Cited
2004
Highly Cited
2004
This work is concerned with the control strategy for the parallel operation of distributed generation systems (DGS) in a… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000… (More)
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Highly Cited
2001
Highly Cited
2001
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features… (More)
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Highly Cited
1999
Highly Cited
1999
The heterozygous chromosome deletion within the band 22q11 (del22q11) is an important cause of congenital cardiovascular defects… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid glands, and thymus. In complete… (More)
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Highly Cited
1993
Highly Cited
1993
DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It… (More)
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Highly Cited
1993
Highly Cited
1993
Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In… (More)
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1991
1991
DiGeorge syndrome (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. It is associated with… (More)
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Highly Cited
1981
Highly Cited
1981
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter→20q11 and… (More)
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