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Last Updated: 10/31/2025
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Found 26 publications
Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 02, 2023
Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications.
Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications.
Journal: Nature communications
Published: November 22, 2019
Relationships among gastrointestinal symptoms, sleep problems, challenging behaviour, comorbid psychopathology and autism spectrum disorder symptoms in children and adolescents with 15q duplication syndrome.
Journal: Journal of intellectual disability research : JIDR
Published: November 15, 2019
An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT1A and Dopamine Pathway Activation as Potential Therapies.
Journal: Biological psychiatry
Published: November 11, 2019
Transcriptomic and proteomic profiling of glial versus neuronal Dube3a overexpression reveals common molecular changes in gliopathic epilepsies.
Journal: Neurobiology of disease
Published: October 16, 2019
Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.
Journal: Autism research : official journal of the International Society for Autism Research
Published: September 01, 2019
Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα.
Journal: Neurobiology of disease
Published: June 20, 2017
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect.
Journal: Taiwanese journal of obstetrics & gynecology
Published: June 02, 2017
Partial monosomy of 10p and duplication of another chromosome in two patients.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 28, 2015
Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
Journal: Epigenomics
Published: November 21, 2015
Parental-reported pain insensitivity in Dup15q.
Journal: Epilepsy & behavior : E&B
Published: August 06, 2015
Last Updated: 10/31/2025