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Chromosome 17q21.31 Deletion Syndrome

Known as: Microdeletion 17q21.31 Syndrome, 17q21.31 Microdeletion Syndrome, KDVS 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2012-2016
01220122016

Related topics

Related topics

18 relations
Atrial Septal DefectsAutosomal dominant inheritanceBicuspid aortic valveCleft Lip
(More)

Broader (4)

Chromosome DeletionChromosomes, Human, Pair 17Intellectual DisabilityMultiple congenital anomalies

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Chromosome 17q21.31 Deletion Syndrome
Autosomal dominant inheritance
Chromosome Deletion
Atrial Septal Defects
Eczema
Cleft Palate

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the… (More)
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2017
2017
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic… (More)
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2016
2016
Enhancing Interpretability of Gene Signatures with Prior Biological Knowledge
Biological interpretability is a key requirement for the output of microarray data analysis pipelines. The most used pipeline… (More)
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2016
2016
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical… (More)
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2013
2013
Complex phenotype associated with 17q21.31 microdeletion.
We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other… (More)
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2012
2012
Knowledge Driven Variable Selection (KDVS) – a new approach to enrichment analysis of gene signatures obtained from high–throughput data
High–throughput (HT) technologies provide huge amount of gene expression data that can be used to identify biomarkers useful in… (More)
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