ArticleJournal of medical genetics1998
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 48 citations in OpenAlex.
- A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.BMC neurology · 2021Article
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.Neuroscience and biobehavioral reviews · 2021Review
- Epigenomic-basis of Preemptive Medicine for Neurodevelopmental Disorders.Current genomics · 2015Article
- Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage.Molecular brain · 2015Article
- Genetics, molecular biology, and phenotypes of x-linked epilepsy.Molecular neurobiology · 2014Review
- Molecular basis of genetic neuropsychiatric disorders.Child and adolescent psychiatric clinics of North America · 2007Review
- Rett syndrome and MeCP2: linking epigenetics and neuronal function.American journal of human genetics · 2002Review
- Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Journal of medical genetics · 2001Article
- Rett syndrome and the MECP2 gene.Journal of medical genetics · 2001Review
- Mutation screening in Rett syndrome patients.Journal of medical genetics · 2000Article
- Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.American journal of human genetics · 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A whole X chromosome study of families in which Rett syndrome had been diagnosed in more than one member indicated that the region between Xq27 and Xqter was the most likely region to harbour a gene which may be involved in the aetiology of the disease. Further, more detailed studies of Xq28 detected weak linkage and a higher than expected sharing of maternally inherited alleles. It is suggested that there may be more than one gene involved in the aetiology of this syndrome, particularly as the very rare families in which more than one girl is affected often show variable clinical symptoms.
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.