Associated Papers
Clinical and genetic characteristics in two cases of Birt-Hogg-Dubé syndrome associated with papillary renal cell carcinoma and rare Folliculin (FLCN) variants.
Evans MG et al.
Cancer Genetics, 2025
Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report.
Lin Y et al.
Bmc Pulmonary Medicine, 2023
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ et al.
Diagnostics (basel, Switzerland), 2023
Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
Radzikowska E et al.
Orphanet Journal of Rare Diseases, 2021
A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review.
Cai M et al.
Frontiers in Genetics, 2021
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.
Guo T et al.
Annals of Translational Medicine, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical 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 the elderly.
Inoue M et al.
Journal of General and Family Medicine, 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
The Case | Bilateral kidney tumors and lung cysts.
Tarafdar S et al.
Kidney International, 2013
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS et al.
Human Mutation, 2011
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