Associated Papers
Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.
Yngvadottir B et al.
Thorax, 2025
40210444 (PubMed )
Supplement: thorax-80-8-s001.pdf
Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma.
Argani P et al.
The American Journal of Surgical Pathology, 2025
Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
Radzikowska E et al.
Orphanet Journal of Rare Diseases, 2021
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
33692861 (PubMed )
Supplement: Supplementary_Data.pdf
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.
Sattler EC et al.
Plos One, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
Demir M et al.
Pediatric Pulmonology, 2016
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Johannesma PC et al.
Familial Cancer, 2016
FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.
Dunlop EA et al.
Autophagy, 2014
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Luijten MN et al.
Human Molecular Genetics, 2013
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Menko FH et al.
Familial Cancer, 2013
Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
Unknown Author
Familial Cancer, 2011
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