FAQ

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

Related topics

Related topics

31 relations
Agenesis of corpus callosumAmbiguous GenitaliaAutosomal recessive inheritanceBUB1B wt Allele
(More)

Broader (2)

Congenital chromosomal diseaseMosaicism

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
leukemia
Cataract
Nephroblastoma
Congenital chromosomal disease
Autosomal recessive inheritance

Papers overview

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Review
2014
Review
2014
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations… (More)
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2013
2013
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.
BACKGROUND Mosaic variegated aneuploidy syndrome (Online Mendelian Inheritance in Man 257300), or premature chromatid separation… (More)
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2011
2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
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
Xenotransplantation of testicular tissue into nude mice can be used for detecting leukemic cell contamination.
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
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by… (More)
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2005
2005
Subcellular and body distributions of 17 trace elements in the variegated scallop Chlamys varia from the French coast of the Bay of Biscay.
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
High risk of malignancy in mosaic variegated aneuploidy syndrome.
 
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Review
2002
Review
2002
High risk of malignancy in mosaic variegated aneuploidy syndrome.
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
Expansions of transgene repeats cause heterochromatin formation and gene silencing in Drosophila.
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
Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
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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