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

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

BMC genetics - 18 Jun 2014

Yang Ren-Qiang, Jabbari Javad, Cheng Xiao-Shu, Jabbari Reza, Nielsen Jonas B, Risgaard Bjarke, Chen Xu, Sajadieh Ahmad, Haunsø Stig, Svendsen Jesper Hastrup, Olesen Morten S, Tfelt-Hansen Jacob

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MFS. However, the disease-causing effect of these variants may be questionable as many of the original studies used low number of controls. To study whether there are possible false-positive...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to False Positive Reactions

Share to Genetic Association Studies

Share to Genetic Variation

Share to Genotype

Share to Marfan Syndrome

Share to Prevalence

Source

Open in PubMed Open full text

Identifiers

PMID: 24941995
DOI: 10.1186/1471-2156-15-74
PMCID: PMC4070351

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.PMID 24941995Read ↗

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.Semantic proximity Read ↗

Exome sequencing identified new mutations in a Marfan syndrome family.Semantic proximity Read ↗

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Semantic proximity Read ↗

Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.Semantic proximity Read ↗

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSemantic 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 ↗

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.Semantic proximity Read ↗

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.Semantic proximity Read ↗

NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysisSemantic proximity Read ↗

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.Semantic proximity Read ↗

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.Semantic proximity Read ↗

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.Semantic proximity Read ↗

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