Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome-Reference-Cited by-同舟云学术

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Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

Published:2013-11 Issue:5 Volume:49 Page:364-367
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Akasaka Noriyuki,Tohyama Jun,Ogawa Atsushi,Takachi Takayuki,Watanabe Akihiro,Asami Keiko

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B;Hanks;Nat Genet,2004

2. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome;Matsuura;Am J Med Genet A,2006

3. The mouse mitotic checkpoint gene Bub1b, a novel Bub1 family member, is expressed in a cell-dependent manner;Davenport;Genomics,1999

4. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia;Rio Frio;N Engl J Med,2010

5. Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants;Kajii;Am J Med Genet,2001

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1. Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report;International Journal of Legal Medicine;2024-04-26

2. Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report;Medicine;2022-09-09

3. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome;Neurological Sciences;2022-07-09

4. Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment;Translational Andrology and Urology;2020-10

5. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?;Molecular Genetics & Genomic Medicine;2020-01-14

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