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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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de… Expand
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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… Expand
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Review
2007
Review
2007
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous… Expand
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Review
2004
Review
2004
MicroRNAs (miRNAs) represent a family of small noncoding RNAs that are found in plants and animals (for recent reviews, see… Expand
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Highly Cited
2004
Highly Cited
2004
MicroRNAs (miRNAs) are a growing family of small non-protein-coding regulatory genes that regulate the expression of homologous… Expand
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Highly Cited
2001
Highly Cited
2001
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of… Expand
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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… Expand
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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… Expand
Highly Cited
1993
Highly Cited
1993
DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It… Expand
Review
1990
Review
1990
BRUNO LATOUR, The pasteurization of France, trans. Alan Sheridan and John Law, Cambridge, Mass., and London, Harvard University… Expand