ReviewFrontiers in pediatrics2020
Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches.
Review in Frontiers in pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 55 citations in OpenAlex.
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Article
- Serum Lipoprotein(a) and High-Sensitivity C-reactive Protein Correlate With Somatic Parameters Including MLPA Subgroups in Children With Prader-Willi Syndrome.Journal of the Endocrine Society · 2025Article
- The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.International journal of molecular sciences · 2025Article
- Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.The Journal of molecular diagnostics : JMD · 2025Article
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Updates on Obesity in Prader-Willi Syndrome: From Genetics to Management.Ewha medical journal · 2023Review
- Age of diagnosis for children with chromosome 15q syndromes.Journal of neurodevelopmental disorders · 2023Article
- Novel epigenetic molecular therapies for imprinting disorders.Molecular psychiatry · 2023Review
- Autonomic nervous system dysfunction in Prader-Willi syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 2023Review
- Chromosomal Microarray Study in Prader-Willi Syndrome.International journal of molecular sciences · 2023Article
- Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.Molecular genetics & genomic medicine · 2022Article
- Hypothalamic syndrome.Nature reviews. Disease primers · 2022Review
- Prolapsed Rectum and Risk Factors in Prader-Willi Syndrome: A Case-Based Review.Journal of pediatric genetics · 2022Article
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.Pediatric neurology · 2021Article
- Effects of Recombinant Human Growth Hormone Treatment, Depending on the Therapy Start in Different Nutritional Phases in Paediatric Patients with Prader-Willi Syndrome: A Polish Multicentre Study.Journal of clinical medicine · 2021Article
- Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2021Article
- A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2-q13 region, respectively. In addition, chromosome 15q duplication caused by the presence of at least one additional maternally derived copy of the 15q11.2-q13 region can lead to seizures, cognitive and behavioral problems. We focus on PWS and AS in the report, and expand the discussion of clinical care and description with genetic testing to include high-resolution studies to more specifically characterize the molecular mechanisms of disease. The importance of early diagnosis with the necessity for accurate molecular characterization through a step-wise algorithm is emphasized in an era of targeted therapeutic interventions. We present a flowchart to aid in ordering specialized genetic testing as several methods are available for patients presenting with features of PWS and/or AS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.