ReviewJournal of medical genetics1999
Monosomy 1p36.
Review in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed, 34 citations in OpenAlex.
- First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.Birth defects research · 2026Article
- Kölliker's Organ Functions as a Developmental Hub in Mouse Cochlea Regulating Spiral Limbus and Tectorial Membrane Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- PRDM16 co-operates with LHX2 to shape the human brain.Oxford open neuroscience · 2024Article
- Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome.Journal of pediatric genetics · 2023Article
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
- Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.European journal of human genetics : EJHG · 2020Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.American journal of human genetics · 2016Article
- The Growing Complexity of the Monosomy 1p36 Syndrome.Molecular syndromology · 2016Article
- Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.Human molecular genetics · 2016Article
- Quantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2.BMC genomics · 2015Article
- Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.Journal of human genetics · 2015Article
- Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.Prenatal diagnosis · 2015Article
- 1p36 deletion syndrome: an update.The application of clinical genetics · 2015Review
- Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).Journal of human genetics · 2014Article
- Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.BMC medical genetics · 2014Article
- Article
- Rare copy number variants are a common cause of short stature.PLoS genetics · 2013Article
- An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.PloS one · 2013Article
- New Genetic Insights into Congenital Heart Disease.Journal of clinical & experimental cardiology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle, prominent forehead, deep set eyes, flat nasal bridge and midface hypoplasia, ear asymmetry, a pointed chin, and orofacial clefting. Minor cardiac malformations, cardiomyopathy, seizures, and ventricular dilatation are the more common additional findings. Sensorineural hearing loss and variable ophthalmological anomalies have also been frequently observed. Although the deletions can be detected by high resolution cytogenetic studies, confirmation by fluorescence in situ hybridisation is required in most cases. The majority of deletions are maternally derived. Molecular characterisation of 1p36 deletions has been undertaken in several cases, and it is likely that this condition is a contiguous gene deletion syndrome.
Indexed as
Identifiers
10507720PMC1734434W4299590943What 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.