15q11.2 Microdeletion Latest Advances

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: May 18, 2025

17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.

Journal: Translational pediatrics

Published: April 24, 2025

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Journal: Nature communications

Published: March 26, 2025

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 19, 2025

Beyond the bleed: Navigating fetal intraventricular hemorrhage.

Journal: Journal of neonatal-perinatal medicine

Published: February 28, 2025

15q11.2 Microdeletion Latest Advances

Find the Latest Research About 15q11.2 Microdeletion

The Association of Environmental Variables with Intelligence and Well-Being in Copy Number Variation (CNV) Carriers.

The Association of Environmental Variables with Intelligence and Well-Being in Copy Number Variation (CNV) Carriers.

Prenatal diagnosis of familial concomitant 2q11.1q11.2 deletion and 15q11.2 deletion in a pregnancy associated with no apparently phenotypic abnormality.

Prenatal diagnosis of familial concomitant 2q11.1q11.2 deletion and 15q11.2 deletion in a pregnancy associated with no apparently phenotypic abnormality.

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.

Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.

Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype.

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype.

Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome.

Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome.

17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.

17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Beyond the bleed: Navigating fetal intraventricular hemorrhage.

Beyond the bleed: Navigating fetal intraventricular hemorrhage.