Article

The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutations

2011-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 49fb5313-42c7-5136-ab32-9bcc19a8b5b7
DOI: 10.1186/1897-4287-9-s1-o5
PMCID: PMC3288945

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutationsDOI 10.1186/1897-4287-9-s1-o5Read

Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.Semantic proximity Read

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Semantic proximity Read

An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.Semantic proximity Read

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.Semantic proximity Read

Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.Semantic proximity Read

Phenotypic characterisation of SMAD4 variant carriers.Semantic proximity Read

SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.Semantic proximity Read

The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.Semantic proximity Read

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.Semantic proximity Read

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4Semantic proximity Read

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriersSemantic proximity Read

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.Semantic proximity Read