Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: FLCN[original query] |
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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 |
FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. American journal of medical genetics. Part A 2015 May 167A (5): 1125-33. Ding Yibing, Zhu Chengchu, Zou Wei, Ma Dehua, Min Haiyan, Chen Baofu, Ye Minhua, Pan Yanqing, Cao Lei, Wan Yueming, Zhang Wenwen, Meng Lulu, Mei Yuna, Yang Chi, Chen Shilin, Gao Qian, Yi Lo |
Novel recurrently mutated genes in African American colon cancers. Proceedings of the National Academy of Sciences of the United States of America 2015 Jan 112 (4): 1149-54. Guda Kishore, Veigl Martina L, Varadan Vinay, Nosrati Arman, Ravi Lakshmeswari, Lutterbaugh James, Beard Lydia, Willson James K V, Sedwick W David, Wang Zhenghe John, Molyneaux Neil, Miron Alexander, Adams Mark D, Elston Robert C, Markowitz Sanford D, Willis Joseph |
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 |
Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test. Cancer 2017 Nov 123 (22): 4363-4371. Nguyen Kevin A, Syed Jamil S, Espenschied Carin R, LaDuca Holly, Bhagat Ansh M, Suarez-Sarmiento Alfredo, O'Rourke Timothy K, Brierley Karina L, Hofstatter Erin W, Shuch Bri |
Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network. Cancer genetics 2017 10 216-217 111-119. Slavin Thomas, Neuhausen Susan L, Rybak Christina, Solomon Ilana, Nehoray Bita, Blazer Kathleen, Niell-Swiller Mariana, Adamson Aaron W, Yuan Yate-Ching, Yang Kai, Sand Sharon, Castillo Danielle, Herzog Josef, Wu Xiwei, Tao Shu, Chavez Tanya, Woo Yanghee, Chao Joseph, Mora Pamela, Horcasitas Darling, Weitzel Jeffr |
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 |
Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing. International journal of rheumatic diseases 2020 2 23 (5): 641-646. Feng Junmei, Zuo Xiaoyu, Gui Lian, Qi Jun, Guo Xinghua, Lv Qing, Zhang Yanli, Fang Linkai, Zhang Xi, Gu Jieruo, Lin Zhimi |
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 |
Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes. eLife 2020 11 9 . Skol Andrew D, Jung Segun C, Sokovic Ana Marija, Chen Siquan, Fazal Sarah, Sosina Olukayode, Borkar Poulami P, Lin Amy, Sverdlov Maria, Cao Dingcai, Swaroop Anand, Bebu Ionut, , Stranger Barbara E, Grassi Michael |
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 |
Genetic differences between lung metastases and liver metastases from left-sided microsatellite stable colorectal cancer: next generation sequencing and clinical implications. Annals of translational medicine 2021 Jun 9 (12): 967. Wang Zhenghang, Zheng Xue, Wang Xicheng, Chen Yawei, Li Zhongwu, Yu Jianing, Yang Wanning, Mao Beibei, Zhang Henghui, Li Jian, Shen L |
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 |
Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system. Cancer 2022 6 128 (16): 3090-3098. Knerr Sarah, Guo Boya, Mittendorf Kathleen F, Feigelson Heather Spencer, Gilmore Marian J, Jarvik Gail P, Kauffman Tia L, Keast Erin, Lynch Frances L, Muessig Kristin R, Okuyama Sonia, Veenstra David L, Zepp Jamilyn M, Goddard Katrina A B, Devine Be |
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 |
Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer. Frontiers in genetics 2022 2 12 755629. Xie Zhengyong, Ke Yongli, Chen Junyong, Li Zehang, Wang Changzheng, Chen Yuhong, Ding Hongliang, Cheng Liya |
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment. European journal of cancer (Oxford, England : 1990) 2022 1 163 44-54. Sculco Marika, La Vecchia Marta, Aspesi Anna, Pinton Giulia, Clavenna Michela G, Casalone Elisabetta, Allione Alessandra, Grosso Federica, Libener Roberta, Muzio Alberto, Rena Ottavio, Baietto Guido, Parini Sara, Boldorini Renzo, Giachino Daniela, Papotti Mauro, Scagliotti Giorgio V, Migliore Enrica, Mirabelli Dario, Moro Laura, Magnani Corrado, Ferrante Daniela, Matullo Giuseppe, Dianzani Ir |
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
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 |
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions. Journal of medical genetics 2023 4 60 (5): 477-483. Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Go |
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma. Translational andrology and urology 2023 3 12 (2): 308-319. Feng Huayi, Cao Shouqing, Ouyang Qing, Li Huaikang, Li Xiubin, Chen Ke, Zhang Xiangyi, Huang Yan, Zhang Xu, Ma X |
Pathogenic Germline Mutational Landscape in Patients With Renal Cell Carcinoma and Associated Clinicopathologic Features. JCO precision oncology 2023 12 7 e2300168. Charles B Nguyen, Claire Knaus, Jinju Li, Marie-Louise Accardo, Erika Koeppe, Ulka N Vaishampayan, Ajjai S Alva, Tobias El |
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 |
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- Page last updated:Apr 22, 2024
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