ArticleJournal of medical genetics1997
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Movement Disorders and Syndromic Autism: A Systematic Review.Journal of autism and developmental disorders · 2019Pooled it
- Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.Journal of pediatric genetics · 2024Article
- Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.PloS one · 2015Article
- Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.Molecular cytogenetics · 2013Article
- Molecular and Clinical Aspects of Angelman Syndrome.Molecular syndromology · 2012Article
- A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Journal of developmental and behavioral pediatrics : JDBP · 2010Article
- Angelman syndrome (AS, MIM 105830).European journal of human genetics : EJHG · 2009Review
- Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.Journal of autism and developmental disorders · 2003Article
- Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.Paediatric drugs · 2003Review
- Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Journal of medical genetics · 2001Article
- A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the characteristic facial phenotype of AS, but in three there was a normal head circumference, two had epilepsy, ataxic movements were mild in three, the mean age of onset of walking was 2.4 years, and there was some sign language in all four patients. Our cases add further weight to the previously reported impressions of a milder phenotype in cases of AS resulting from UPD than in deleted AS patients. Patients suspected of having AS, but who are considered atypical, warrant DNA testing.
Indexed as
Identifiers
What OpenQuestion holds
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.