Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 9 (of 9 Records) |
| Query Trace: Muir-torre Syndrome[original query] |
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| Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. JAMA dermatology 2014 Dec 150 (12): 1315-21. Everett Jessica N, Raymond Victoria M, Dandapani Monica, Marvin Monica, Kohlmann Wendy, Chittenden Anu, Koeppe Erika, Gustafson Shanna L, Else Tobias, Fullen Douglas R, Johnson Timothy M, Syngal Sapna, Gruber Stephen B, Stoffel Elena |
| BRAF/KRAS gene sequencing of sebaceous neoplasms after mismatch repair protein analysis. Human pathology 2014 Jun 45 (6): 1213-20. Cornejo Kristine M, Hutchinson Lloyd, Deng April, Tomaszewicz Keith, Welch Matthew, Lyle Stephen, Dresser Karen, Cosar Ediz |
| [Lynch syndrome, Muir Torre variant: 2 cases]. Rev Gastroenterol Peru 2016 Jan-Mar (36): 81-5. Castro-Mujica María Del Carmen, Barletta-Carrillo Claudia, Acosta-Aliaga Marisa, Montenegro-Garreaud Xime |
| Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome. Skinmed 2017 9 15 (4): 259-264. Pollinger Tess H, Kieliszak Christopher R, Logemann Nicholas, Gratrix Max |
| Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population. Japanese journal of clinical oncology 2018 5 48 (6): 514-521. Kuwabara Kouki, Suzuki Okihide, Chika Noriyasu, Kumamoto Kensuke, Minabe Toshiharu, Fukuda Tomoo, Arai Eiichi, Tamaru Jun-Ichi, Akagi Kiwamu, Eguchi Hidetaka, Okazaki Yasushi, Ishida Hideyu |
| Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting. Clinical and experimental dermatology 2018 1 43 (4): 410-415. Schon K, Rytina E, Drummond J, Simmonds J, Abbs S, Sandford R, Tischkowitz |
| Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome. Molecular genetics & genomic medicine 2019 6 7 (7): e00781. Georgeson Peter, Walsh Michael D, Clendenning Mark, Daneshvar Simin, Pope Bernard J, Mahmood Khalid, Joo Jihoon E, Jayasekara Harindra, Jenkins Mark A, Winship Ingrid M, Buchanan Daniel |
| Keratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir-Torre Syndrome). Journal of the European Academy of Dermatology and Venereology : JEADV 2021 12 36 Suppl 1 74-76. Miao Y, Kolb F, Tomasic G, Lupu J, Routier E, Robert |
| [Sebaceous gland carcinoma of the eyelid co-occurred with other tumors: a report of four cases]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2024 11 60 (11): 921-926. Y C Wang, J Li, Y T Guo, J Li, J Li, J Y L |
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