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MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Known as:
MVA Syndrome
, MVA1
, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
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An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The…
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National Institutes of Health
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Related topics
Related topics
30 relations
Agenesis of corpus callosum
Ambiguous Genitalia
Autosomal recessive inheritance
BUB1B wt Allele
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Broader (2)
Congenital chromosomal disease
Mosaicism
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
A molecular model for sporadic human aneuploidy.
W. Warren
,
Kylie L. Gorringe
Trends in Genetics
2006
Corpus ID: 23446375
2006
2006
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
S. Hanks
,
K. Coleman
,
+8 authors
N. Rahman
Cancer Letters
2006
Corpus ID: 2084966
2006
2006
Glass mosaic tesserae from Pompeii: an archeometrical investigation
R. Arletti
,
S. Quartieri
,
G. Vezzalini
2006
Corpus ID: 55138737
This work reports the results of an archaeometrical investigation performed, through a multi-technique approach, on a series of…
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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
S. Yatsenko
,
D. Treadwell-Deering
,
+5 authors
L. Potocki
American Journal of Medical Genetics. Part A
2005
Corpus ID: 10304808
The unstable, gene‐rich chromosome region 17p11.2‐p12 is associated with various structural aberrations including supernumerary…
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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
H. Kawame
,
Y. Sugio
,
+4 authors
K. Maekawa
Journal of Human Genetics
1999
Corpus ID: 33556331
AbstractWe report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic…
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Review
1999
Review
1999
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.
C. Limwongse
,
Stuart Schwartz
,
Maureen E Bocian
,
Nathaniel H. Robin
American journal of medical genetics
1999
Corpus ID: 34959674
We report on a 7-year-old boy with mosaic variegated aneuploidy (MVA) who developed embryonal rhabdomyosarcoma of the soft palate…
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1996
1996
Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome.
M. Consevage
,
J. Seip
,
D. Belchis
,
A. T. Davis
,
B. Baylen
,
P. Rogan
American Journal of Cardiology
1996
Corpus ID: 20727797
1995
1995
Molecular and Ultrastructural Analysis of a Nonchromosomal Variegated Mutant (Tomato Mitochondrial Mutants That Cause Abnormal Leaf Development)
A. B. Bonnema
,
Catherine Castillo
,
+4 authors
Mary O’Connell
Plant Physiology
1995
Corpus ID: 22233283
Mutants were recovered in a population of cybrids formed following protoplast fusion between tomato (Lycopersicon esculentum Mill…
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Highly Cited
1985
Highly Cited
1985
Cytogenetic aspects of Werner syndrome.
Darrell Salk
,
K. Au
,
Holger Hoehn
,
George M. Martin
Advances in Experimental Medicine and Biology
1985
Corpus ID: 39470819
Cultured skin fibroblast-like (FL) cells from patients with Werner syndrome display frequent pseudodiploidy involving multiple…
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1976
1976
Ethylene-induced Formation of ABA in Citrus Peel as Related to Chloroplast Transformations.
H. E. Brisker
,
E. Goldschmidt
,
R. Goren
Plant Physiology
1976
Corpus ID: 7987376
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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