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Last Updated: 10/31/2025
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Found 124 publications
Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: September 15, 2025
Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.
Journal: Cureus
Published: August 19, 2025
Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome.
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
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
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.
Journal: International journal of molecular sciences
Published: February 06, 2025
Prenatal diagnosis and genetic counselling of monozygotic triplets with paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.
Journal: Taiwanese journal of obstetrics & gynecology
Published: January 13, 2025
Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series.
Journal: Pediatric neurology
Published: January 10, 2025
Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: December 18, 2024
Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.
Journal: Frontiers in genetics
Published: November 27, 2024
Last Updated: 10/31/2025