ArticleAmerican journal of human genetics1994
Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 34 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Article
- Idiopathic Aqueductal Stenosis: Late Neurocognitive Outcome in ETV Operated Adult Patients.Frontiers in neurology · 2022Article
- Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.PloS one · 2012Article
- A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1996Article
- Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.Journal of medical genetics · 1996Article
- X linked hydrocephalus and MASA syndrome.Journal of medical genetics · 1996Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with close linkage to the DXS52 and F8C markers in Xq28. We have investigated a family with typical X-linked aqueductal stenosis, in which no linkage to these markers was present. In this family, close linkage was established to the DXS548 and FRAXA loci in Xq27.3. Our findings demonstrate that X-linked aqueductal stenosis may result from mutations at two different loci on the X chromosome. Caution is indicated in using linkage for the prenatal diagnosis of X-linked hydrocephalus.
Indexed as
Identifiers
8304340PMC1918160W1561787772What 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.