Zobrazeno 1 - 10
of 140
pro vyhledávání: '"FLCN gene"'
Publikováno v:
Respirology Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Birt–Hogg–Dubé syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the FLCN gene, mapped to chromosome 17p11.2. Typical manifestations include pulmonary cysts, spontaneous pneumothorax, fibrofolli
Externí odkaz:
https://doaj.org/article/77cda1c04172403e93a5b1bc66ac29c8
Autor:
Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu, Xiaowen Hu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China. Methods After the first patient with
Externí odkaz:
https://doaj.org/article/770b34f3875e43f9ae851cab41dfebfd
Autor:
Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-4 (2022)
Abstract In this comment, we highlight the diagnosis of Birt–Hogg–Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and whic
Externí odkaz:
https://doaj.org/article/b9fd905eb7ad4dddbec0eab420f916d2
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang
Externí odkaz:
https://doaj.org/article/6160a890d75e4bed80d4ac0e1d28ce9f
Publikováno v:
In Chest May 2020 157(5):1199-1206
Publikováno v:
Radiology Case Reports, Vol 15, Iss 9, Pp 1464-1467 (2020)
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disease. Typical clinical features include skin lesions, pulmonary cysts, and renal tumors. However, the syndrome remains to be underdiagnosed as a result of its heterogeneous cli
Externí odkaz:
https://doaj.org/article/b08614a3dbf845e2934e41a773a60c05
Autor:
Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usual
Externí odkaz:
https://doaj.org/article/814522fe1dc546558d7c70b20837f302
Publikováno v:
Respiratory Medicine Case Reports, Vol 40, Iss , Pp 101757- (2022)
Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumo
Externí odkaz:
https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa
Autor:
Joo Hee Lee, Min Joo Jeon, Joon Seon Song, Eun Jin Chae, Jin-Ho Choi, Gu-Hwan Kim, Jin Woo Song
Publikováno v:
The Korean Journal of Internal Medicine, Vol 34, Iss 4, Pp 830-840 (2019)
Background/Aims Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the features of Korean patients with
Externí odkaz:
https://doaj.org/article/22d1e3d1f8e447dea5ed898a8a71501a
Autor:
Minghui Cai, Xinxin Zhang, Lizhen Fan, Shuwen Cheng, Abdukahar Kiram, Shaoqin Cen, Baofu Chen, Minhua Ye, Qian Gao, Chengchu Zhu, Long Yi, Dehua Ma
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Birt–Hogg–Dubé syndrome (BHDS, MIM #135150), caused by germline mutations of FLCN gene, is a rare autosomal dominant inherited disorder characterized by skin fibrofolliculomas, renal cancer, pulmonary cysts and spontaneous pneumothorax. The synd
Externí odkaz:
https://doaj.org/article/1209bfcba77e4f409a939750924b9756