MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Known as: MVA Syndrome, MVA1, Instability mitotic non disjunction syndrome 
An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1958-2017
024619582017

Papers overview

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Review
2014
Review
2014
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations… (More)
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2013
2013
BACKGROUND Mosaic variegated aneuploidy syndrome (Online Mendelian Inheritance in Man 257300), or premature chromatid separation… (More)
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2011
2011
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic… (More)
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2007
2007
BACKGROUND Xeno-grafting of testicular tissue may allow viable gamete maturation. This would be beneficial for prepubertal cancer… (More)
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2006
2006
We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by… (More)
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2005
2005
Seventeen elements were analysed in the organs and tissues of the variegated scallop Chlamys varia, from the Atlantic coast of… (More)
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2003
2003
 
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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… (More)
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Highly Cited
1994
Highly Cited
1994
Closely linked repeats of a Drosophila P transposon carrying a white transgene were found to cause white variegation. Arrays of… (More)
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1991
1991
We report the case of a 17 year old girl with severe microcephaly and mental retardation, in whom karyotype analysis of PHA… (More)
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