Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 83 publications
Genetic analysis of two fetuses with Mosaic variegated aneuploidy syndrome caused by compound heterozygous variants in BUB1B and its upstream regulatory elements and a literature Review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2025
BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.
Journal: Journal of the American Heart Association
Published: March 07, 2025
Mosaic variegated aneuploidy in development, ageing and cancer.
Journal: Nature reviews. Genetics
Published: June 27, 2024
A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: May 30, 2024
Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.
Journal: International journal of legal medicine
Published: February 07, 2024
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
Journal: Journal of human genetics
Published: August 09, 2023
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Journal: Clinical genetics
Published: September 18, 2022
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Journal: Molecular syndromology
Published: January 12, 2022
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Journal: Molecular genetics & genomic medicine
Published: November 26, 2021
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Journal: European journal of medical genetics
Published: April 06, 2021
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
Journal: Prenatal diagnosis
Published: January 18, 2021
Last Updated: 10/31/2025