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

Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations.

Archives of pathology & laboratory medicine - 1 Dec 2006

Adley Brian P, Smith Norm D, Nayar Ritu, Yang Ximing J

Abstract excerpt

CONTEXT: Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition transmitted in an autosomal dominant fashion. This complex entity is characterized by cutaneous fibrofolliculomas, kidney tumors, pulmonary cysts, and spontaneous pneumothorax. Recently, the gene possibly responsible for the clinical manifestations of BHD syndrome has been cloned and characterized. The few reviews of BHD syndrome found...

Read the complete abstract on PubMed

Topics

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

Share to Carcinoma, Renal Cell
Share to Chromosomes, Human, Pair 17
Share to Kidney Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplasms, Multiple Primary

Share to Proto-Oncogene Proteins

Share to Skin Neoplasms

Share to Syndrome

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 17149965
DOI: 10.5858/2006-130-1865-BSCFAG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations.PMID 17149965Read ↗

Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.Semantic proximity Read ↗

A special case study of Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

Lung cysts in Birt‐Hogg‐Dubé syndrome: Histopathological characteristics and aberrant sequence repeatsSemantic proximity Read ↗

Renal tumors in the Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.Semantic proximity Read ↗

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.Semantic proximity Read ↗

Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.Semantic proximity Read ↗

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read ↗

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