Associated Papers
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Skarin Nordenvall A et al.
British Journal of Cancer, 2026
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Gupta S et al.
European Urology, 2025
Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.
Cui X et al.
Bmj Case Reports, 2025
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report.
Babalola O et al.
Sage Open Medical Case Reports, 2024
Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2023
Folliculin inactivation and cutaneous leiomyosarcoma in Birt-Hogg-Dubé syndrome.
Fostier W et al.
The British Journal of Dermatology, 2023
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K et al.
Plos One, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome.
Yoshida K et al.
Case Reports in Radiology, 2018
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors.
Lindor NM et al.
Hereditary Cancer in Clinical Practice, 2012
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR et al.
Journal of Medical Genetics, 2008
Select a paper to view details