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

Jak2 mutation expands the thrombophilic panel in children.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2020

Forest Cristina, Gallo Paola, Fumarola Adriana, Burnelli Roberta, Suppiej Agnese

Abstract excerpt

Cerebral sinus venous thrombosis (CSVT) is an important cause of vascular accidents in children. The diagnosis of the underlying disease allows appropriate and timely management of the risk factors and guide therapy, but the etiology remains unknown in 20% to 25% of the cases. We present the first case of a child presenting with CSVT caused by the Janus Kinase 2 (JAK2) V617F mutation, occurring without the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Janus Kinase 2
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myeloproliferative Disorders

Share to Risk Factors

Share to Thrombophilia

Source

Identifiers

PMID: 32654426
DOI: 10.1111/jth.14999

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Jak2 mutation expands the thrombophilic panel in children.PMID 32654426Read ↗

JAK2 mutation-negative essential thrombocythemia in a child presenting with cerebral venous thrombosis.Semantic proximity Read ↗

Characteristics of patients with cerebral sinus venous thrombosis and JAK2 V617F mutation.Semantic proximity Read ↗

Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.Semantic proximity Read ↗

Mechanisms of cerebral venous sinus thrombosis due to essential thrombocythemia: Current status and future perspectives.Semantic proximity Read ↗

Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review.Semantic proximity Read ↗

Genetic Testing in the Diagnosis and Treatment of Cerebral venous sinus thrombosis: A Case ReportSemantic proximity Read ↗

Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant.Semantic proximity Read ↗

Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository.Semantic proximity Read ↗

Germline JAK2 L611S mutation in a child with thrombocytosis.Semantic proximity Read ↗

Cerebral Venous Sinus Thrombosis as the First Manifestation of JAK2V617F-positive Essential Thrombocythemia.Semantic proximity Read ↗

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?Semantic proximity Read ↗

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.Semantic proximity Read ↗

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