Chromosome 15q13.3 Microdeletion Syndrome

Known as: 15q13.3 Microdeletion Syndrome, Microdeletion 15q13.3 Syndrome, Chromosome 15q13.3 Deletion Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2017
02420012017

Papers overview

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2017
2017
BACKGROUND Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental… (More)
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2016
2016
Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical… (More)
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2016
2016
The 15q13.3 microdeletion copy number variation is strongly associated with schizophrenia and epilepsy. The CHRNA7 gene, encoding… (More)
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2016
2016
Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia… (More)
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2016
2016
15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed… (More)
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2015
2015
BACKGROUND The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome… (More)
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2013
2013
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental… (More)
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Highly Cited
2008
Highly Cited
2008
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms… (More)
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2002
2002
During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been… (More)
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2002
2002
 
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