Chromosome 6 Uniparental Disomy Latest Advances

Find the Latest Research About Chromosome 6 Uniparental Disomy

Last Updated: 06/30/2026

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Found 103 publications

Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.

Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.

Journal: Prenatal diagnosis

Published: January 14, 2026

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

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.

Journal: Molecular genetics & genomic medicine

Published: November 20, 2025

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy.

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy.

Journal: Case reports in endocrinology

Published: October 20, 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

Showing 1-12 of 103

Last Updated: 06/30/2026