Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Bap1 Tumor Predisposition Syndrome[original query] |
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Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. World neurosurgery 2017 10 109 362-364. Kaszuba Megan C, Pulido Jose S, Folpe Andrew L, Pichurin Pavel N, Goodenberger McKinsey L, Spinner Robert |
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. Genes, chromosomes & cancer 2018 May . Massengill James B, Sample Klarke M, Pilarski Robert, McElroy Joseph, Davidorf Frederick H, Cebulla Colleen M, Abdel-Rahman Mohamed |
Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. Journal of the American Academy of Dermatology 2018 May . Garfield Erin M, Walton Kara E, Quan Victor L, VandenBoom Timothy, Zhang Bin, Kong Betty Y, Isales Maria Cristina, Panah Elnaz, Kim Gene, Gerami Pedr |
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma. BMC cancer 2018 11 18 (1): 1172. Ewens K G, Lalonde E, Richards-Yutz J, Shields C L, Ganguly |
Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Human molecular genetics 2019 5 28 (14): 2415-2426. Repo Pauliina, Järvinen Reetta-Stiina, Jäntti Johannes E, Markkinen Salla, Täll Martin, Raivio Virpi, Turunen Joni A, Kivelä Tero |
Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk. American journal of ophthalmology 2020 12 224 172-177. Singh Nakul, Singh Rahul, Bowen Randy Chris, Abdel-Rahman Mohamed H, Singh Arun |
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 |
Germ Line BAP1 Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma. Ocular oncology and pathology 2021 11 7 (5): 340-345. Shao Yusra F, DeBenedictis Meghan, Yeaney Gabrielle, Singh Arun |
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome. Familial cancer 2022 8 . Abbassi Yasaman Arjmand, Le Guin Claudia, Bornfeld Norbert, Bechrakis Nikolaos E, Zeschnigk Michael, Lohmann Dietmar |
Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome. JAMA dermatology 2024 5 . Alexandra Lebensohn, Azam Ghafoor, Luke Bloomquist, Michael C Royer, Leslie Castelo-Soccio, Kelli Karacki, Olanda Hathaway, Tenin Maglo, Cathy Wagner, Maria G Agra, Andrew M Blakely, David S Schrump, Raffit Hassan, Edward W Cow |
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