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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

Related topics

Related topics

30 relations
Agenesis of corpus callosumAmbiguous GenitaliaAutosomal recessive inheritanceBUB1B wt Allele
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Broader (2)

Congenital chromosomal diseaseMosaicism

Papers overview

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Highly Cited
2014
Highly Cited
2014
Genomic epidemiology of Neisseria gonorrhoeae with reduced susceptibility to cefixime in the USA: a retrospective observational study
Summary Background The emergence of Neisseria gonorrhoeae with decreased susceptibility to extended spectrum cephalosporins… Expand
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Review
2013
Review
2013
Molecular causes of aneuploidy in mammalian eggs
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
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… Expand
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Review
2011
Review
2011
The aneuploidy paradox: costs and benefits of an incorrect karyotype.
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
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
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
Concise handbook of familial cancer susceptibility syndromes - second edition.
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
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
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
Multitasking in Replication Is Common among Geminiviruses
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
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… Expand
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Review
1989
Review
1989
The chloroplast genome.
 
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