Zobrazeno 1 - 10
of 72
pro vyhledávání: '"BHD syndrome"'
Publikováno v:
BMC Pulmonary Medicine, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, pulmonary cysts, and recurrent pneumothorax. Pulmonary cysts are the cause of recurrent pneumothorax, which is
Externí odkaz:
https://doaj.org/article/2eceeee359654fb59092ebf3441df5f6
Autor:
Ryosuke Jikuya, Todd A. Johnson, Kazuhiro Maejima, Jisong An, Young-Seok Ju, Hwajin Lee, Kyungsik Ha, WooJeung Song, Youngwook Kim, Yuki Okawa, Shota Sasagawa, Yuki Kanazashi, Masashi Fujita, Seiya Imoto, Taku Mitome, Shinji Ohtake, Go Noguchi, Sachi Kawaura, Yasuhiro Iribe, Kota Aomori, Tomoyuki Tatenuma, Mitsuru Komeya, Hiroki Ito, Yusuke Ito, Kentaro Muraoka, Mitsuko Furuya, Ikuma Kato, Satoshi Fujii, Haruka Hamanoue, Tomohiko Tamura, Masaya Baba, Toshio Suda, Tatsuhiko Kodama, Kazuhide Makiyama, Masahiro Yao, Brian M. Shuch, Christopher J. Ricketts, Laura S. Schmidt, W. Marston Linehan, Hidewaki Nakagawa, Hisashi Hasumi
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104596- (2023)
Summary: Background: Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLC
Externí odkaz:
https://doaj.org/article/1a1f190403a54532b17c7529b2ef813d
Publikováno v:
Frontiers in Surgery, Vol 9 (2022)
Externí odkaz:
https://doaj.org/article/9b12ee9bf0344f9eab30cd80fa4934b3
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Birt–Hogg–Dube syndrome is an autosomal dominant condition that arises from germline folliculin (FLCN) mutations. It is characterized by skin fibrofolliculomas, lung cysts, pneumothorax, and renal cancer. Here, we present the case of a 36-year-ol
Externí odkaz:
https://doaj.org/article/c10405ae04194d489645fd14bf459729
Autor:
Sylvain Bodard, Idris Boudhabhay, Charles Dariane, Christophe Delavaud, Sylvain Guinebert, Dominique Joly, Marc-Olivier Timsit, Arnaud Mejean, Virginie Verkarre, Olivier Hélénon, Stéphane Richard, Jean-Michel Correas
Publikováno v:
Cancers, Vol 14, Iss 20, p 4969 (2022)
BHD syndrome is characterized by an increased risk of bilateral and multifocal renal cell carcinoma (RCCs), but is rarely metastatic. Our report aims to analyze the outcome of patients with BHD syndrome who underwent percutaneous thermal ablation (TA
Externí odkaz:
https://doaj.org/article/679ae37aca4d414a8e0dd695518b0137
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
Autor:
Nirajan Adhikari, Apurwa Karki
Publikováno v:
Respiratory Medicine Case Reports, Vol 32, Iss , Pp 101340- (2021)
Birt Hogg Dube (BHD) syndrome, also called as Hornstein Knickenburg syndrome is a rare syndrome caused by germline mutation in the folliculin (FLCN) gene and transmitted via autosomal dominant pattern. Different phenotypes with different manifestatio
Externí odkaz:
https://doaj.org/article/6efb33df57374216a88e9e6306023904
Akademický článek
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Akademický článek
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Autor:
Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)
Abstract Background Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutation
Externí odkaz:
https://doaj.org/article/a4c7d074c4dd4744b817650dd1bc0c4a