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

Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor.

International journal of molecular sciences - 15 Sept 2023

Spena Silvia, Cairo Andrea, Gianniello Francesca, Pappalardo Emanuela, Mortarino Mimosa, Garagiola Isabella, Martinelli Ida, Peyvandi Flora

Abstract excerpt

High plasma levels of factor VIII (FVIII) and von Willebrand factor (VWF) have been indicated as independent risk factors for venous thromboembolism. However, the genetic factors responsible for their increase remain poorly known. In a large Italian family with high FVIII/VWF levels and thrombotic episodes, whole exome sequencing (WES) was performed on 12 family members to identify variants/genes involved in...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor VIII

Share to Genetic Variation

Share to MicroRNAs

Share to Pedigree

Share to von Willebrand Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 37762470
DOI: 10.3390/ijms241814167
PMCID: PMC10532311

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

Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor.PMID 37762470Read ↗

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.Semantic proximity Read ↗

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma LevelsSemantic proximity Read ↗

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.Semantic proximity Read ↗

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.Semantic proximity Read ↗

Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.Semantic proximity Read ↗

Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.Semantic proximity Read ↗

Whole-exome sequencing in evaluation of patients with venous thromboembolismSemantic proximity Read ↗

A common 253‐kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3Semantic proximity Read ↗

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.Semantic proximity Read ↗

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients.Semantic proximity Read ↗

Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique.Semantic proximity Read ↗

Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.Semantic proximity Read ↗

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