Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 14 (of 14 Records) |
Query Trace: Hereditary Leiomyomatosis And Renal Cell Cancer[original query] |
---|
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. The American journal of pathology 2004 Jan 164 (1): 17-22. Lehtonen Rainer, Kiuru Maija, Vanharanta Sakari, Sjöberg Jari, Aaltonen Leena-Maija, Aittomäki Kristiina, Arola Johanna, Butzow Ralf, Eng Charis, Husgafvel-Pursiainen Kirsti, Isola Jorma, Järvinen Heikki, Koivisto Pasi, Mecklin Jukka-Pekka, Peltomäki Päivi, Salovaara Reijo, Wasenius Veli-Matti, Karhu Auli, Launonen Virpi, Nupponen Nina N, Aaltonen Lauri |
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Archives of dermatology 2008 Dec 144 (12): 1584-92. Stewart Laveta, Glenn Gladys M, Stratton Pamela, Goldstein Alisa M, Merino Maria J, Tucker Margaret A, Linehan W Marston, Toro Jorge |
Multiple hits for the association of uterine fibroids on human chromosome 1q43. PloS one 2013 8 (3): e58399. Aissani Brahim, Wiener Howard, Zhang K |
MED12 exon 2 mutations in histopathological uterine leiomyoma variants. European journal of human genetics : EJHG 2013 Nov 21 (11): 1300-3. Mäkinen Netta, Vahteristo Pia, Kämpjärvi Kati, Arola Johanna, Bützow Ralf, Aaltonen Lauri |
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval. Endocrine-related cancer 2015 Aug 22 (4): 633-43. Aissani Brahim, Zhang Kui, Mensenkamp Arjen R, Menko Fred H, Wiener Howard |
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). Familial cancer 2018 2 17 (4): 615-620. Bhola Priya T, Gilpin Cathy, Smith Amanda, Graham Gail |
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients. Histopathology 2019 9 76 (3): 354-365. Liu Chengbao, Dillon Jessica, Beavis Anna L, Liu Yuehua, Lombardo Kara, Fader Amanda N, Hung Chien-Fu, Wu Tzyy-Choou, Vang Russell, Garcia Jairo E, Xing Dey |
MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas. Human reproduction open 2018 2018 (4): hoy020. Heikkinen Tuomas, Äyräväinen Anna, Hänninen Janne, Ahvenainen Terhi, Bützow Ralf, Pasanen Annukka, Vahteristo P |
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas. Journal of clinical pathology 2020 5 73 (12): 819-825. Furuya Mitsuko, Iribe Yasuhiro, Nagashima Yoji, Kambe Naotomo, Ohe Chisato, Kinoshita Hidefumi, Sato Chika, Kishida Takeshi, Okubo Yoichiro, Numakura Kazuyuki, Nanjo Hiroshi, Nakaigawa Noboru, Makiyama Kazuhide, Hasumi Hisashi, Iwashita Hiromichi, Ohta Junichi, Kitamura Hiroshi, Nakajima Takahiko, Yoshida Takahiro, Nakagawa Masahiro, Tanaka Reiko, Yao Masahi |
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization. Cancers 2020 11 12 (11): . Sánchez-Heras A Beatriz, Castillejo Adela, García-Díaz Juan D, Robledo Mercedes, Teulé Alexandre, Sánchez Rosario, Zúñiga Ángel, Lastra Enrique, Durán Mercedes, Llort Gemma, Yagüe Carmen, Ramon Y Cajal Teresa, López San Martin Consol, López-Fernández Adrià, Balmaña Judith, Robles Luis, Mesa-Latorre José M, Chirivella Isabel, Fonfria María, Perea Ibañez Raquel, Castillejo M Isabel, Escandell Inés, Gomez Luis, Berbel Pere, Soto Jose Lu |
Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives. Journal of kidney cancer and VHL 2022 9 9 (2): 27-31. Catarina Tavares, Quental Maria Sofia, Brandão José Ricardo, Silva-Ramos Migu |
Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma. Annals of the New York Academy of Sciences 2022 7 1516 (1): 262-270. Ma Xiaosen, Cui Yunying, Gao Yinjie, Zhang Xuebin, Nie Min, Tong An |
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC). Human molecular genetics 2023 8 . Daniel R Crooks, G Mariah Cawthon, Christina M Fitzsimmons, Minervo Perez, Christopher J Ricketts, Cathy D Vocke, Ye Yang, Lindsay Middelton, Debbie Nielsen, Laura S Schmidt, Mayank Tandon, Maria J Merino, Mark W Ball, Jordan L Meier, Pedro J Batista, W Marston Lineh |
Fumarate Hydratase Variants and their Association with Paraganglioma/Pheochromocytoma. Urology 2023 2 . Zavoshi Shirin, Lu Eric, Boutros Paul C, Zhang Liying, Harari Avital, Hatchell Kathryn E, Nielsen Sarah M, Esplin Edward D, Ouyang Karen, Nykamp Keith, Wilde Blake, Christofk Heather, Shuch Bri |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 28, 2024
- Content source: