ReviewJournal of medical genetics1996
X linked hydrocephalus and MASA syndrome.
Review in Journal of medical genetics, 1996. 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
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
29 citing papers in PubMed.
- Identification and functional characteristics of a novel splice site variant inFrontiers in genetics · 2025Article
- Flow cytometry-based quantification of genome editing efficiency in human cell lines using the L1CAM gene.PloS one · 2023Article
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Imaging of fetal ventriculomegaly.Pediatric radiology · 2020Review
- Shedding Light on Chandelier Cell Development, Connectivity, and Contribution to Neural Disorders.Trends in neurosciences · 2020Review
- Article
- Whole Exome Sequencing: Applications in Prenatal Genetics.Obstetrics and gynecology clinics of North America · 2018Review
- The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Molecular cytogenetics · 2016Article
- Soluble L1CAM promotes breast cancer cell adhesion and migration in vitro, but not invasion.Cancer cell international · 2010Article
- Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.The Journal of comparative neurology · 2010Article
- Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.Journal of medical genetics · 2007Article
- The role of cytoplasmic serine residues of the cell adhesion molecule L1 in neurite outgrowth, endocytosis, and cell migration.Cellular and molecular neurobiology · 2007Article
- Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions.Molecular and cellular neurosciences · 2005Article
- RanBPM is an L1-interacting protein that regulates L1-mediated mitogen-activated protein kinase activation.Journal of neurochemistry · 2005Article
- L1-mediated branching is regulated by two ezrin-radixin-moesin (ERM)-binding sites, the RSLE region and a novel juxtamembrane ERM-binding region.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Neurotractin, a novel neurite outgrowth-promoting Ig-like protein that interacts with CEPU-1 and LAMP.The Journal of cell biology · 1999Article
- Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.Journal of medical genetics · 1998Article
- The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Journal of medical genetics · 1998Article
- Dissection of complex molecular interactions of neurofascin with axonin-1, F11, and tenascin-R, which promote attachment and neurite formation of tectal cells.The Journal of cell biology · 1998Article
- Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.European journal of pediatrics · 1998Review
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.
Funding
Abstract
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. Although originally described as distinct entities, their similarity has become apparent as the number of reported families has increased and a high degree of intra- and interfamilial variation in clinical signs noted for both disorders. Consideration of this clinical overlap together with finding that genes for both diseases map to the same chromosomal band (Xq28) led to the hypothesis that they were caused by mutation at the same locus. This was confirmed by identification of mutations in patients with X linked hydrocephalus and MASA syndrome within the gene for neural cell adhesion molecule L1. Here we review the clinical and genetic characteristics of these disorders and the underlying molecular defects in the L1 gene.
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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.