Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

The New England journal of medicine - 21 Jul 1994

Pereira L, Levran O, Ramirez F, Lynch J R, Sykes B, Pyeritz R E, Dietz H C

Abstract excerpt

BACKGROUND: The fibrillin gene encodes a protein in the extracellular matrix, and this protein is widely distributed in elastic tissues. The fibrillin gene is the site of mutations causing Marfan's syndrome. This disorder shows a high degree of clinical variability both between and within families. Each family appears to have a unique mutation in the fibrillin gene, which precludes the routine use of mutation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to Molecular Sequence Data

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8008028
DOI: 10.1056/NEJM199407213310302

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.PMID 8008028Read ↗

The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease.Semantic proximity Read ↗

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.Semantic proximity Read ↗

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.Semantic proximity Read ↗

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.Semantic proximity Read ↗

The population frequency of Marfan syndrome and the associated cardiac risks in a normal populationSemantic proximity Read ↗

Clinical and genetic associations in Marfan syndrome and related disorders.Semantic proximity Read ↗

Fibrillln mutations in Marfan syndrome and related phenotypes.Semantic proximity Read ↗

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.Semantic proximity Read ↗

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.Semantic proximity Read ↗

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.Semantic proximity Read ↗

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.Semantic proximity Read ↗

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.