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MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Known as: MVA Syndrome, MVA1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 
An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The… Expand
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Summary Background The emergence of Neisseria gonorrhoeae with decreased susceptibility to extended spectrum cephalosporins… Expand
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Review
2013
Review
2013
Mammalian oocytes are particularly error prone in segregating their chromosomes during their two meiotic divisions. This results… Expand
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Highly Cited
2011
Highly Cited
2011
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic… Expand
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Review
2011
Review
2011
Aneuploidy has a paradoxical effect on cell proliferation. In all normal cells analyzed to date, aneuploidy has been found to… Expand
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Highly Cited
2010
Highly Cited
2010
Genetic mutations in the mitotic regulatory kinase BUBR1 are associated with the cancer-susceptible disorder mosaic variegated… Expand
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Highly Cited
2008
Highly Cited
2008
1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell… Expand
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Highly Cited
2004
Highly Cited
2004
Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer… Expand
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Highly Cited
2003
Highly Cited
2003
ABSTRACT Geminiviruses package single-stranded circular DNA and replicate via double-stranded DNA intermediates. During the past… Expand
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Review
2002
Review
2002
Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare… Expand
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Review
1989
Review
1989
 
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