Associated Papers
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.
Gupta S et al.
European Urology, 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
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
Bruinsma F et al.
Cancers, 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
Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt-Hogg-Dubé syndrome.
Bajwa DS et al.
The British Journal of Dermatology, 2021
Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
Radzikowska E et al.
Orphanet Journal of Rare Diseases, 2021
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Al-Shinnag M et al.
Frontiers in Oncology, 2021
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
Zhang X et al.
Respiratory Research, 2016
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
Bondavalli D et al.
American Journal of Medical Genetics. Part A, 2015
Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.
Shvartsbeyn M et al.
Journal of Cutaneous Pathology, 2012
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.
Kim J et al.
Gene, 2012
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