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

Mutations of the <i>Birt–Hogg–Dubé</i> gene in patients with multiple lung cysts and recurrent pneumothorax

11 May 2007

Abstract excerpt

RATIONALE: Birt-Hogg-Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at chromosome 17p11.2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures...

Read the complete abstract on PubMed

Topics

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

Share to Bladder and Urothelial Cancer Treatments
Share to Renal cell carcinoma treatment
Share to Tuberous Sclerosis Complex Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17496196
DOI: 10.1136/jmg.2007.049874

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Mutations of the <i>Birt–Hogg–Dubé</i> gene in patients with multiple lung cysts and recurrent pneumothoraxPMID 17496196Read ↗

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.Semantic proximity Read ↗

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

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

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.Semantic proximity Read ↗

Two genetically confirmed Japanese cases of Birt Hogg Dube syndrome presenting with pneumothorax including early onset bilateral renal tumors in one caseSemantic proximity Read ↗

Birt-Hogg-Dubé syndrome: a large single family cohort.Semantic proximity Read ↗

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.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 ↗

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

Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.Semantic proximity Read ↗

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