Chromosome 6 Uniparental Disomy Latest Advances

Find the Latest Research About Chromosome 6 Uniparental Disomy

Last Updated: 04/28/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 100 publications

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.

Journal: Diagnostics (Basel, Switzerland)

Published: December 08, 2025

The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study.

The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study.

Journal: Biomedicines

Published: September 08, 2025

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework.

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework.

Journal: Genes

Published: February 24, 2025

6q24-Related Transient Neonatal Diabetes Mellitus Presenting With Severe Diabetic Ketoacidosis and Multiorgan Failure.

6q24-Related Transient Neonatal Diabetes Mellitus Presenting With Severe Diabetic Ketoacidosis and Multiorgan Failure.

Journal: JCEM case reports

Published: February 14, 2025

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Journal: Genetics in medicine open

Published: December 06, 2024

The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report.

The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 29, 2024

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Journal: Brain communications

Published: March 12, 2024

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Journal: Scientific reports

Published: February 01, 2024

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

Journal: Pediatric diabetes

Published: January 03, 2024

Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.

Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.

Journal: Forensic sciences research

Published: November 18, 2023

Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Journal: Taiwanese journal of obstetrics & gynecology

Published: October 30, 2023

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Journal: Molecular cytogenetics

Published: August 24, 2023

Showing 1-12 of 100

Last Updated: 04/28/2026