Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
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
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
The molecular code of kidney cancer: A path of discovery for gene mutation and precision therapy.
Xie D et al.
Molecular Aspects of Medicine, 2025
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
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.
Pan HH et al.
Journal of Medical Genetics, 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 with c.1579_1580insA variant in a Chinese family: a case report.
Tang S et al.
Frontiers in Medicine, 2023
The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.
Guo T et al.
Annals of Translational Medicine, 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
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
Liu L et al.
Biomed Research International, 2017
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
Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
Furuya M et al.
Journal of Clinical Pathology, 2013
Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.
Furuya M et al.
The American Journal of Surgical Pathology, 2012
[Birt-Hogg-Dubé syndrome].
Koga S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010