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Chromosome 15q13.3 Microdeletion Syndrome

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

Papers overview

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2018
2018
15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay… Expand
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2016
2016
Background:Chromosome 15q13.3 represents a hotspot for genomic rearrangements due to repetitive sequences mediating nonallelic… Expand
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2015
2015
The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability… Expand
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2014
2014
AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain… Expand
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Highly Cited
2013
Highly Cited
2013
The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual… Expand
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Highly Cited
2010
Highly Cited
2010
Purpose: The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of… Expand
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2010
2010
BACKGROUND & OBJECTIVES Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia… Expand
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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… Expand
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2008
2008
The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high… Expand
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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… Expand
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