ArticleAmerican journal of medical genetics. Part A2008
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 81 citations in OpenAlex.
- Growth hormone receptor (GHR) gene polymorphism and Prader-Willi syndrome.American journal of medical genetics. Part A · 2013Trial
- A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome.Journal of human nutrition and dietetics : the official journal of the British Dietetic Association · 2013Trial
- Immortalization of Mesenchymal Stem Cells for Application in Regenerative Medicine and Their Potential Risks of Tumorigenesis.International journal of molecular sciences · 2024Review
- Chromosomal Microarray Study in Prader-Willi Syndrome.International journal of molecular sciences · 2023Article
- Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.American journal of medical genetics. Part A · 2022Article
- Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.Orphanet journal of rare diseases · 2022Review
- Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.International journal of molecular sciences · 2021Review
- Food and Non-Food-Related Behavior across Settings in Children with Prader-Willi Syndrome.Genes · 2020Article
- Magnesium Supplement and the 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: A Potential Treatment?International journal of molecular sciences · 2019Review
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
- Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.American journal of medical genetics. Part A · 2018Review
- Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.Journal of intellectual disability research : JIDR · 2017Review
- Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.American journal of medical genetics. Part A · 2017Article
- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.Annals of pediatric endocrinology & metabolism · 2016Review
- A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.Biomedical reports · 2016Article
- Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.Current pediatric reviews · 2016Review
- Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).Cytogenetic and genome research · 2016Article
- Single Gene and Syndromic Causes of Obesity: Illustrative Examples.Progress in molecular biology and translational science · 2016Review
- Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.Journal of endocrinological investigation · 2015Review
- The 15q11.2 BP1-BP2 microdeletion syndrome: a review.International journal of molecular sciences · 2015Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) is due to loss of paternally expressed genes in the 15q11-q13 region generally from a paternal 15q11-q13 deletion. The proximal deletion breakpoint in the 15q11-q13 region occurs at one of two sites located within either of two large duplicons allowing for identification of two typical deletion subgroups. The larger type I (TI) deletion involving breakpoint 1 (BP1) is nearer to the centromere and located proximal to the microsatellite marker D15S1035, while the smaller type II (TII) deletion involves breakpoint 2 (BP2) and distal to D15S1035. Breakpoint 3 (BP3) is located at the distal end of the 15q11-q13 region and common to both typical deletion subgroups. Using high resolution aCGH, BP1 spanned a region from 18.683 to 20.220 Mb, BP2 from 20.812 to 21.357 Mb and BP3 from 25.941 to 27.286 Mb. The TI deletion ranged in size from 5.721 to 8.147 Mb (mean 6.583) and the type II deletion from 4.770 to 6.435 Mb (mean 5.330). A subset of the TI subjects showed larger deletions including the loss of at least three genes/transcripts (i.e., LOC283755, POTE5, OR4N4) in addition to the four genes between BP1 and BP2 (i.e., GCP5, CYFIP1, NIPA1, NIPA2). Interestingly, four PWS subjects had duplications of the 15q11 region in addition to the typical deletion. Furthermore, most PWS subjects had copy number variation (CNV) of 50 kb or larger in other chromosome regions; most common were deletions and duplications of 8p and 3q, previously recognized sites of CNV in the human genome.
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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.