Mosaic Variegated Aneuploidy Syndrome Latest Advances

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.

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

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

Journal: HGG advances

Published: August 03, 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 Latest Advances

Find the Latest Research About Mosaic Variegated Aneuploidy Syndrome

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.

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.

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

BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.

BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.

Mosaic variegated aneuploidy in development, ageing and cancer.

Mosaic variegated aneuploidy in development, ageing and cancer.

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.

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.

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.

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.

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 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 and Noonan Syndrome in the Same Family.

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.