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Chromosome 17q21.31 Deletion Syndrome

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

Related topics

Related topics

19 relations
Atrial Septal DefectsAutosomal dominant inheritanceBicuspid aortic valveCleft Lip

Broader (4)

Chromosome DeletionChromosomes, Human, Pair 17Intellectual DisabilityMultiple congenital anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Optimizing The Cell Seeding Protocol to Human Decellularized Ovarian Scaffold: Application of Dynamic System for Bio-Engineering
Objective Decellularized tissue scaffolds provide an extracellular matrix to control stem cells differentiation toward specific… 
2017
2017
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
BACKGROUND Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental… 
2016
2016
A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment
RationaleA microdeletion at locus 15q13.3 is associated with high incidence rates of psychopathology, including schizophrenia. A… 
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… 
Highly Cited
2015
Highly Cited
2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically… 
2014
2014
Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
Abstract We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a… 
2013
2013
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome
The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual… 
Highly Cited
2004
Highly Cited
2004
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth… 
1992
1992
Excitation of solitons by an external resonant wave with a slowly varying phase velocity.
A novel mechanism is proposed for the excitation of solitons in nonlinear dispersive media. The mechanism employs an external… 
1992
1992
Nonlinear surface-wave excitations in the Bénard-Marangoni system.
We examine the appearance of surface waves governed by Burgers and Korteweg — de Vries equations in a shallow viscous heated… 
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