ReviewTranslational pediatrics2017
The dilemma of diagnostic testing for Prader-Willi syndrome.
Review in Translational pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed.
- A scoping review of dietary interventions to treat obesity among Prader-Willi syndrome individuals.Intractable & rare diseases research · 2025Review
- Article
- Article
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Brain and behavior · 2024Article
- Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2023Article
- Progress in Brain Magnetic Resonance Imaging of Individuals with Prader-Willi Syndrome.Journal of clinical medicine · 2023Review
- Comparison of Body Composition, Muscle Strength and Cardiometabolic Profile in Children with Prader-Willi Syndrome and Non-Alcoholic Fatty Liver Disease: A Pilot Study.International journal of molecular sciences · 2022Observational
- Hypothalamic syndrome.Nature reviews. Disease primers · 2022Review
- Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.Annals of laboratory medicine · 2022Article
- A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?Molecular cytogenetics · 2021Article
- A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.Molecular genetics & genomic medicine · 2019Article
- Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.Molecular cytogenetics · 2019Article
- Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.Frontiers in endocrinology · 2019Review
- Diagnostic and prognostic problems with the Prader-Willi syndrome.Proceedings (Baylor University. Medical Center) · 2019Article
- Prader Willi Syndrome - A Common Epigenetic Cause of Syndromic Obesity.Indian journal of pediatrics · 2017Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost-effective approach to diagnostic testing.
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