Disease: Mosaic variegated aneuploidy syndrome
- 47,XXY/46,XX mosaicism and abnormalities of sexual differentiation. A case report
- A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications
- A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review
- A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax
- A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth
- Age-related decline in BubR1 impairs adult hippocampal neurogenesis
- Aneuploidy in the normal and diseased brain
- Another rare prenatal case of post-zygotic mosaic trisomy 17
- Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A
- Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders
- Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report
- Biallelic <em>BUB1</em> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
- Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility
- Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation
- BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome
- BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome
- BUBR1 recruits PP2A via the B56 family of targeting subunits to promote chromosome congression
- Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants
- CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome
- Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint
- CHROMOSOMAL MOSAIC, PROBABLY RADIO-INDUCED IN UTERO
- Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint
- CHROMOSOMAL MOSAICISM: NORMAL-D-D, WITH MENTAL AND CORPOREAL DEVELOPMENTAL RETARDATION
- Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis
- Ciliopathy in PCS (MVA) syndrome
- Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes
- Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome
- Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome
- Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer
- Crystal structure of human Cep57 C-terminal domain reveals the presence of leucine zipper and the potential microtubule binding region
- Cytogenetic aspects of Werner's syndrome lymphocyte cultures
- Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
- Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage
- Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident
- Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome
- Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
- Germline predisposition to genitourinary rhabdomyosarcoma
- Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome
- High risk of malignancy in mosaic variegated aneuploidy syndrome
- High risk of malignancy in mosaic variegated aneuploidy syndrome
- Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia
- Identification of genuine primary pulmonary NK cell lymphoma via clinicopathologic observation and clonality assay
- Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates
- Long-term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis
- Male-mediated developmental toxicity
- MASTR: a technique for mosaic mutant analysis with spatial and temporal control of recombination using conditional floxed alleles in mice
- Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF
- Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
- Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines
- Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy
- Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome
- Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
- Mosaic variegated aneuploidy
- Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
- Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum
- Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family
- Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
- Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192
- Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
- Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait
- Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression
- Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
- Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center
- Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death
- Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results
- Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation
- p21 both attenuates and drives senescence and aging in BubR1 progeroid mice
- Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
- PCS/MVA syndrome caused by an <em>Alu</em> insertion in the <em>BUB1B</em> gene
- Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder
- Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome?
- Precocious puberty in a patient with mosaic Turner syndrome
- Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation
- Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype
- Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome
- Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer
- Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation
- Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome
- Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy
- RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
- Segmental type 1 manifestation of Darier disease. An example of cutaneous mosaicism
- Spectral karyotyping of Werner syndrome fibroblast cultures
- Spindle-assembly checkpoint and gastrointestinal cancer
- Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report
- 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
- TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome
- The Cep57-pericentrin module organizes PCM expansion and centriole engagement
- The challenging trisomy 16: a case report
- The detection of mosaicism by prenatal BoBs™
- The influence of target population on nonculture-based detection of markers of Neisseria gonorrhoeae antimicrobial resistance
- The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans
- TRANSVESTISM AND FERTILITY IN A CHROMOSOMAL MOSAIC
- TRIPLE CHROMOSOMAL MOSAICISM IN A JAPANESE CHILD WITH DOWN'S SYNDROME
- TRIPLE STEM-LINE CHROMOSOMAL MOSAICISM IN DOWN'S SYNDROME (MONGOLISM)
- Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss
- Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4
- Whole chromosome gain does not in itself confer cancer-like chromosomal instability
- Wilms tumor accompanied by premature chromatid separation
- Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia
- X chromosome regulation: diverse patterns in development, tissues and disease