Associated Papers
Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes.
Schirwani S et al.
Journal of Medical Genetics, 2025
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.
Tu L et al.
The American Journal of Case Reports, 2025
Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.
Cui X et al.
Bmj Case Reports, 2025
Colon adenocarcinoma and Birt-Hogg-Dubé syndrome in a young patient: case report and exploration of pathologic implications.
Jirka GW et al.
Cancer Biology & Therapy, 2023
Adrenal Cortical Carcinoma and Additional Rare Pathologic Findings in Multi-Organs in a Birt-Hogg-Dubé Syndrome Patient: With an Emphasis on the Molecular Characteristics of Adrenal Cortical Carcinoma.
Kim D et al.
International Journal of Surgical Pathology, 2023
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
van de Beek I et al.
Molecular Genetics & Genomic Medicine, 2023
Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene.
Hasal E et al.
Annals of Dermatology, 2022
New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.
Kennedy JC et al.
Seminars in Respiratory and Critical Care Medicine, 2020
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
Balsamo F et al.
Bmc Medical Genetics, 2020
Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.
Tong Y et al.
American Journal of Clinical Dermatology, 2018
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Johannesma PC et al.
Familial Cancer, 2016
Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
Näf E et al.
Familial Cancer, 2016
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
Nature Reviews. Urology, 2015
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
Benusiglio PR et al.
Orphanet Journal of Rare Diseases, 2014
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.
Gijezen LM et al.
Plos One, 2014
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC et al.
British Journal of Cancer, 2011
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS et al.
Human Mutation, 2011
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
Nahorski MS et al.
Journal of Medical Genetics, 2010
Abstracts of the Second Birt Hogg Dubé Symposium. Washington, DC, USA. April 22, 2010.
Unknown Author
Familial Cancer, 2010
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
Schmidt LS et al.
Expert Opinion on Orphan Drugs, 0