Human Genome Epidemiology Literature Finder
|
Records 1 - 17 (of 17 Records) |
| Query Trace: Syndrome and FLCN[original query] |
|---|
| Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 Sep 100 (17): 1260-2. Ricketts Christopher, Woodward Emma R, Killick Pip, Morris Mark R, Astuti Dewi, Latif Farida, Maher Eamonn |
| Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clinical genetics 2008 Aug 74 (2): 178-83. Ren H-Z, Zhu C-C, Yang C, Chen S-L, Xie J, Hou Y-Y, Xu Z-F, Wang D-J, Mu D-K, Ma D-H, Wang Y, Ye M-H, Ye Z-R, Chen B-F, Wang C-G, Lin J, Qiao D, Yi |
| Folliculin mutations are not associated with severe COPD. BMC medical genetics 2008 9 (1): 120. Cho Michael H, Klanderman Barbara J, Litonjua Augusto A, Sparrow David, Silverman Edwin K, Raby Benjamin |
| Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events. PloS one 2016 11 (3): e0151476. Furuya Mitsuko, Tanaka Reiko, Okudela Koji, Nakamura Satoko, Yoshioka Hiromu, Tsuzuki Toyonori, Shibuya Ryo, Yatera Kazuhiro, Shirasaki Hiroki, Sudo Yoshiko, Kimura Naoko, Yamada Kazuaki, Uematsu Shugo, Kunimura Toshiaki, Kato Ikuma, Nakatani Yuk |
| Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. Clinical genetics 2016 May . Furuya Mitsuko, Yao Masahiro, Tanaka Reiko, Nagashima Yoji, Kuroda Naoto, Hasumi Hisashi, Baba Masaya, Matsushima Jun, Nomura Fumio, Nakatani Yuk |
| Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up. The Korean journal of internal medicine 2018 10 34 (4): 830-840. Lee Joo Hee, Jeon Min Joo, Song Joon Seon, Chae Eun Jin, Choi Jin-Ho, Kim Gu-Hwan, Song Jin W |
| Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2019 6 57 (1): 39-45. Liu Yanguo, Xing Huajie, Huang Yu, Meng Shushi, Wang J |
| Growth Rates of Genetically Defined Renal Tumors: Implications for Active Surveillance and Intervention. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 2 38 (11): 1146-1153. Ball Mark W, An Julie Y, Gomella Patrick T, Gautam Rabindra, Ricketts Christopher J, Vocke Cathy D, Schmidt Laura S, Merino Maria J, Srinivasan Ramaprasad, Malayeri Ashkan A, Metwalli Adam R, Linehan W Marst |
| The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome. Annals of translational medicine 2020 12 8 (21): 1436. Guo Ting, Shen Qinxue, Ouyang Ruoyun, Song Min, Zong Dandan, Shi Zhihui, Long Yingjiao, Chen Ping, Peng Ho |
| Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome. Chest 2020 1 157 (5): 1199-1206. Sattler Elke C, Syunyaeva Zulfiya, Mansmann Ulrich, Steinlein Ortrud |
| Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome. Orphanet journal of rare diseases 2021 7 16 (1): 302. Radzikowska El?bieta, Lechowicz Urszula, Winek Jolanta, Opoka Lucy |
| Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia. JAMA network open 2021 11 4 (11): e2132615. Gupta Sounak, Erickson Lori A, Lohse Christine M, Shen Wei, Pitel Beth A, Knight Shannon M, Halling Kevin C, Herrera-Hernandez Loren, Boorjian Stephen A, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Cheville John |
| Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN. Orphanet journal of rare diseases 2022 4 17 (1): 176. Ray Anindita, Chattopadhyay Esita, Singh Richa, Ghosh Saurabh, Bera Arnab, Sarma Mridul, Munot Mahavir, Desai Unnati, Rajan Sujeet, Prabhudesai Pralhad, Prakash Ashish K, Roy Chowdhury Sushmita, Bhowmick Niladri, Dhar Raja, Udwadia Zarir F, Dey Atin, Mitra Subhra, Joshi Jyotsna M, Maitra Arindam, Roy Bidy |
| PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated with Lipoma and a Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma. Urology 2023 6 . Laura S Schmidt, Cathy D Vocke, Christopher J Ricketts, Zoë Blake, Kristin K Choo, Deborah Nielsen, Rabindra Gautam, Daniel R Crooks, Krista L Reynolds, Janis L Krolus, Meena Bashyal, Baktiar Karim, Edward W Cowen, Ashkan A Malayeri, Maria J Merino, Ramaprasad Srinivasan, Mark W Ball, Berton Zbar, W Marston Lineh |
| Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome. Orphanet journal of rare diseases 2023 5 18 (1): 115. Yue Wang, Mengru Cai, Xianliang Jiang, Guangyu Lv, Daiju Hu, Guofeng Zhang, Jinli Liu, Wei Wei, Jun Xiao, Bing Shen, Jay H Ryu, Xiaowen |
| Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics 2023 1 . van de Beek Irma, Glykofridis Iris E, Tanck Michael W T, Luijten Monique N H, Starink Theo M, Balk Jesper A, Johannesma Paul C, Hennekam Eric, van den Hoff Maurice J B, Gunst Quinn D, Gille Johan J P, Polstra Abeltje M, Postmus Pieter E, van Steensel Maurice A M, Postma Alex V, Wolthuis Rob M F, Menko Fred H, Houweling Arjan C, Waisfisz Quint |
| Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region. Orphanet journal of rare diseases 2024 9 19 (1): 348. Daiju Hu, Rui Wang, Jinli Liu, Xianmeng Chen, Xianliang Jiang, Jun Xiao, Jay H Ryu, Xiaowen |
- Page last reviewed:Feb 1, 2024
- Content source: