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

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

Journal of medical genetics - 1 Jan 2002

Körkkö J, Kaitila I, Lönnqvist L, Peltonen L, Ala-Kokko L

Abstract excerpt

OBJECTIVE: It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS). FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA). When the clinical presentation is typical, diagnosis of MFS is usually easy to make. However, there can be a marked phenotypic variation between...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Ectopia Lentis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Fibrillin-1

Share to Fibrillins

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 11826022
DOI: 10.1136/jmg.39.1.34
PMCID: PMC1734965

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.PMID 11826022Read ↗

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.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 ↗

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.Semantic proximity Read ↗

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.Semantic proximity Read ↗

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.Semantic proximity Read ↗

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.Semantic proximity Read ↗

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.Semantic proximity Read ↗

Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.Semantic proximity Read ↗

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.Semantic proximity Read ↗

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Semantic proximity Read ↗

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Semantic proximity Read ↗

Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.Semantic proximity Read ↗

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