ArticleAmerican journal of human genetics1993
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
Article 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 17 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
17 citing papers in PubMed, 71 citations in OpenAlex.
- Review
- Marfan's syndrome: an overview.Sao Paulo medical journal = Revista paulista de medicina · 2010Review
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Nucleic acids research · 2009Article
- Marfan syndrome in the third Millennium.European journal of human genetics : EJHG · 2002Review
- Marfan Database (third edition): new mutations and new routines for the software.Nucleic acids research · 1998Article
- Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1997Article
- Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.American journal of human genetics · 1996Article
- Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.Journal of medical genetics · 1996Article
- Software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1996Article
- Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.American journal of human genetics · 1995Article
- Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.The American journal of pathology · 1995Article
- A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.The Journal of clinical investigation · 1995Article
- A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.American journal of human genetics · 1994Article
- Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.The Biochemical journal · 1994Article
- An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.The Journal of clinical investigation · 1994Article
- Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome.The Journal of cell biology · 1994Article
- Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.Texas Heart Institute journal · 1994Review
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 3 institutions in 1 country.
Funding
Abstract
The Marfan syndrome, an autosomal dominant connective tissue disorder, is manifested by abnormalities in the cardiovascular, skeletal, and ocular systems. Recently, fibrillin, an elastin-associated microfibrillar glycoprotein, has been linked to the Marfan syndrome, and fibrillin mutations in affected individuals have been documented. In this study, genetic linkage analysis with fibrillin specific markers was used to establish the prenatal diagnosis in an 11-wk-gestation fetus in a four-generation Marfan kindred. At birth, skeletal changes suggestive of the Marfan syndrome were observed. Reverse transcription-PCR amplification of the fibrillin gene mRNA detected a deletion of 123 bp in one allele in affected relatives. This deletion corresponds to an exon encoding an epidermal growth factor-like motif. Examination of genomic DNA showed a G-->C transversion at the +1 consensus donor splice site.
Indexed as
Identifiers
8101042PMC1682369W2151396485What 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.