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

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene.

Revista espanola de cardiologia (English ed.) - 1 Aug 2017

Trujillo-Quintero Juan Pablo, Herrera-Noreña José María, Mosquera-Rodríguez Víctor X, Fernández-Fernández Xusto, Vázquez-Rodríguez José Manuel, Barriales-Villa Roberto

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged
Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrillin-1

Share to Marfan Syndrome

Share to Pedigree

Share to Young Adult

Source

Identifiers

PMID: 28117189
DOI: 10.1016/j.rec.2016.11.025

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large Family With Marfan Syndrome Demonstrating the Pathogenicity of a "Synonymous" Variant (p.Ile2118=) in the Fibrillin-1 Gene.PMID 28117189Read ↗

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.Semantic proximity Read ↗

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

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.Semantic proximity Read ↗

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndromeSemantic proximity Read ↗

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.Semantic proximity Read ↗

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.Semantic proximity Read ↗

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.Semantic proximity Read ↗

Marfan syndrome in the third Millennium.Semantic proximity Read ↗

The molecular genetics of Marfan syndrome and related microfibrillopathies.Semantic proximity Read ↗

Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.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.