Associated Papers
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
A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.
Miao H et al.
Molecular Genetics & Genomic Medicine, 2024
Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.
Namba Y et al.
Plos One, 2023
Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.
Zhou W et al.
International Journal of General Medicine, 2022
The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.
Guo T et al.
Annals of Translational Medicine, 2020
Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation.
Zheng CM et al.
Chinese Medical Journal, 2019
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
Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.
Iwabuchi C et al.
Journal of Dermatological Science, 2018
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2017
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
Furuya M et al.
Clinical Genetics, 2016
Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
Furuya M et al.
Cancer Science, 2015
Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé syndrome.
Iribe Y et al.
Pathology International, 2015
Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family.
Lin Z et al.
Internal Medicine (tokyo, Japan), 2014
Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
Furuya M et al.
Journal of Clinical Pathology, 2013
Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome.
Nishii T et al.
Pathology International, 2013
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
Kunogi M et al.
Journal of Medical Genetics, 2010
[Birt-Hogg-Dubé syndrome].
Koga S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009