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Research article

First published 2025-10

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications

Gunce Basarir, Irmak Erdogan, Berk Ozyilmaz [...]

Journal of Child Neurology

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Research article

First published 2025

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

Hanna Sepsick, Boyu Ma, Shane Yann Chang Kau [...]

The Cleft Palate Craniofacial Journal

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Case report

First published 2025-3

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

Ibrahim Melik, Diane G. Brackett, Stephen P. Sanders [...]

Pediatric and Developmental Pathology

Open access

Case report

First published 2024

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion ( Burnside–Butler ) syndrome: A case report and literature review

Soumitra Das, Vallabh Shet, Sanjana Palakodeti [...]

Sage Open Medical Case Reports

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Other

First published 2009-10

15q11.2-13 Duplication,Mitochondrial Dysfunction,and Developmental Disorders

Richard E. Frye

Journal of Child Neurology

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Case report

First published 2010-7

Absent Smooth Muscle Actin Immunoreactivity of the Small Bowel Muscularis Propria Circular Layer in Association with Chromosome 15q11 Deletion in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Reka Szigeti, Bruno P. Chumpitazi, Milton J. Finegold [...]

Pediatric and Developmental Pathology

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Brief report

First published 2002-06

Angelman Syndrome Methylation Screening of 15q11–q13 in Institutionalized Individuals with Severe Mental Retardation

Nivea H.C. Aquino, Elenice Bastos, Leticia C.G. Fonseca [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2004-1

Mosaic Duplication for 15Q10 - 15Q11.2 Related to An Extra Ring Chromosome in a Boy with An Abnormal Phenotype

M. Demos, L. Armstrong

Journal of Investigative Medicine

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Research article

First published 2022-03

Maternal Duplication 15q11-13 Syndrome with Autism Spectrum Disorder: Mood Stabilization by Carbamazepine

Christopher George Viamontes, Jorge Castillo Gonzalez, Fedra Najjar [...]

Journal of Child and Adolescent Psychopharmacology

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Research article

First published 2018-08

Molecular Karyotyping in Children and Adolescents with Gender Dysphoria

Ken C. Pang, Debi Feldman, Ralph Oertel [...]

Transgender Health

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