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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… 
National Institutes of Health

Related topics

Related topics

30 relations
Agenesis of corpus callosumAmbiguous GenitaliaAutosomal recessive inheritanceBUB1B wt Allele

Broader (2)

Congenital chromosomal diseaseMosaicism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
A molecular model for sporadic human aneuploidy.
2006
2006
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
2006
2006
Glass mosaic tesserae from Pompeii: an archeometrical investigation
This work reports the results of an archaeometrical investigation performed, through a multi-technique approach, on a series of… 
Review
2005
Review
2005
Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
The unstable, gene‐rich chromosome region 17p11.2‐p12 is associated with various structural aberrations including supernumerary… 
Review
1999
Review
1999
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature
AbstractWe report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic… 
Review
1999
Review
1999
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.
We report on a 7-year-old boy with mosaic variegated aneuploidy (MVA) who developed embryonal rhabdomyosarcoma of the soft palate… 
1996
1996
Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.
1995
1995
Molecular and Ultrastructural Analysis of a Nonchromosomal Variegated Mutant (Tomato Mitochondrial Mutants That Cause Abnormal Leaf Development)
Mutants were recovered in a population of cybrids formed following protoplast fusion between tomato (Lycopersicon esculentum Mill… 
Highly Cited
1985
Highly Cited
1985
Cytogenetic aspects of Werner syndrome.
Cultured skin fibroblast-like (FL) cells from patients with Werner syndrome display frequent pseudodiploidy involving multiple… 
1976
1976
Ethylene-induced Formation of ABA in Citrus Peel as Related to Chloroplast Transformations.
When mature green harvested Shamouti oranges (Citrus sinensis L. Osbeck) were exposed to 35 mul/liter of ethylene, a 3-fold… 
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