Mosaic Variegated Aneuploidy Syndrome Latest Advances

Find the Latest Research About Mosaic Variegated Aneuploidy Syndrome

Last Updated: 09/26/2026

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Found 88 publications

Sequential presentation of Wilms' tumor and orbital rhabdomyosarcoma in a child with mosaic variegated aneuploidy syndrome 3.

Sequential presentation of Wilms' tumor and orbital rhabdomyosarcoma in a child with mosaic variegated aneuploidy syndrome 3.

Journal: Orbit (Amsterdam, Netherlands)
Published: August 13, 2026

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss.

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss.

Journal: Frontiers in endocrinology
Published: March 25, 2026

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 10, 2025

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.

Journal: Journal of medical genetics
Published: October 29, 2025

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

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

Proteostasis failure and mitochondrial dysfunction contribute to chromosomal instability-induced microcephaly.

Proteostasis failure and mitochondrial dysfunction contribute to chromosomal instability-induced microcephaly.

Journal: Nature communications
Published: March 18, 2025

BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.

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.

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.

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.

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.

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 with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Journal: HGG advances
Published: August 03, 2023
Showing 1-12 of 88

Last Updated: 09/26/2026