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

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

American journal of medical genetics - 1 Apr 2001

Toudjarska I, Kilpatrick M W, Lembessis P, Carra S, Harton G L, Sisson M E, Black S H, Stern H J, Gelman-Kohan Z, Shohat M, Tsipouras P

Abstract excerpt

Marfan syndrome is an autosomal dominant disorder affecting the skeletal, ocular, and cardiovascular systems. Defects in the gene that encodes fibrillin-1 (FBN1), the main structural component of the elastin-associated microfibrils, are responsible for the disorder. Molecular diagnosis in families with Marfan syndrome can be undertaken by using intragenic FBN1 gene markers to identify and track the disease...

Read the complete abstract on PubMed

Topics

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

Share to Family Health
Share to Fertilization in Vitro

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

Share to Fibrillin-1

Share to Fibrillins

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Prenatal Diagnosis

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 11251996
DOI: 10.1002/ajmg.1174

Genes

FBN1

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

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.PMID 11251996Read ↗

Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.Semantic proximity Read ↗

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.Semantic proximity Read ↗

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.Semantic proximity Read ↗

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.Semantic proximity Read ↗

The role of genetic testing in Marfan syndrome.Semantic proximity Read ↗

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practiceSemantic proximity Read ↗

Marfan syndrome. Part 1: pathophysiology and diagnosis.Semantic proximity Read ↗

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.Semantic proximity Read ↗

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.Semantic proximity Read ↗

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.Semantic proximity Read ↗

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