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
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
GPNMB Expression Identifies FLCN -Associated Eosinophilic Renal Tumors With Heterogeneous Clinicopathologic Spectrum and Gene Expression Profiles.
Xia QY et al.
The American Journal of Surgical Pathology, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Gupta S et al.
European Urology, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.
Kang X et al.
Frontiers in Medicine, 2025
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.
Shabet C et al.
Familial Cancer, 2024
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.
Hu D et al.
Orphanet Journal of Rare Diseases, 2024
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ et al.
Diagnostics (basel, Switzerland), 2023
Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.
Li J et al.
Journal of Cancer Research and Clinical Oncology, 2023
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
Birt-Hogg-Dubé Syndrome: Two Patients With Different Initial Presentations.
Bakhati B et al.
Cureus, 2022
Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.
Zhang G et al.
Orphanet Journal of Rare Diseases, 2022
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
A case of severe allergic eosinophilic asthma with nasal polyposis in a patient affected by Birt-Hogg-Dubé syndrome successfully treated with benralizumab.
De Pace CC et al.
European Annals of Allergy and Clinical Immunology, 2021
The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.
Guo T et al.
Annals of Translational Medicine, 2020
A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.
Genc Yavuz B et al.
Molecular Genetics & Genomic Medicine, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2017
Genome-Wide Uniparental Disomy and Copy Number Variations in Renal Cell Carcinomas Associated with Birt-Hogg-Dubé Syndrome.
Iribe Y et al.
The American Journal of Pathology, 2016
Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
Furuya M et al.
Cancer Science, 2015
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.
Kumasaka T et al.
Histopathology, 2014
Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
Unknown Author
Familial Cancer, 2011
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
Maffé A et al.
Clinical Genetics, 2011
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
Fuertes I et al.
Actas Dermo-sifiliograficas, 2009
Folliculin mutations are not associated with severe COPD.
Cho MH et al.
Bmc Medical Genetics, 2008
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
Toro JR et al.
American Journal of Respiratory and Critical Care Medicine, 2007
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
Graham RB et al.
American Journal of Respiratory and Critical Care Medicine, 2005
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
American Journal of Human Genetics, 2005
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
Torricelli E et al.
Respiration; International Review of Thoracic Diseases, 0
Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report.
Mikhaylenko DS et al.
Case Reports in Oncology, 0