ReviewAmerican journal of human genetics1993
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
Review in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 108 citations in OpenAlex.
- Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.AJNR. American journal of neuroradiology · 2024Article
- Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.Molecular syndromology · 2023Article
- Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.Frontiers in endocrinology · 2021Review
- Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication.Advances in experimental medicine and biology · 2020Article
- Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Molecular syndromology · 2017Article
- Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18.F1000Research · 2017Article
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
- Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.Italian journal of pediatrics · 2013Review
- Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.Journal of human genetics · 2008Article
- Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.American journal of human genetics · 2007Article
- Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization.Human brain mapping · 2005Article
- Myelination in children with partial deletions of chromosome 18q.AJNR. American journal of neuroradiology · 2005Article
- Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2004Article
- Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.American journal of human genetics · 2003Article
- Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.Journal of medical genetics · 1998Article
- Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.Journal of medical genetics · 1997Article
- Molecular characterization of patients with 18q23 deletions.American journal of human genetics · 1997Article
- Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.American journal of human genetics · 1996Article
- Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.Human genetics · 1996Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. The patients had varying degrees of typical clinical findings associated with the 18q- syndrome. Cytogenetic analysis revealed deletions from 18q21.3 or 18q22.2 to qter. Somatic cell hybrids derived from the patients were molecularly characterized using ordered groups of probes isolated from a chromosome 18-specific library. In general, the size of the deletion could be correlated with the severity of the phenotype. Based on the clinical pictures of these seven patients, a preliminary phenotypic map for the clinical features associated with deletions of the distal portion of the long arm has been generated. Furthermore, genes previously localized to 18q21 were mapped relative to the chromosome breakpoints present in these patients.
Indexed as
Identifiers
8488839PMC1682039W1565259906What 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.