Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Disease and BLM[original query] |
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| Risk of chemotherapy-induced pulmonary fibrosis is associated with polymorphic tumour necrosis factor-a2 gene. The European respiratory journal 2002 May 19 (5): 912-8. Libura J, Bettens F, Radkowski A, Tiercy J M, Piguet P |
| Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations. Neurology 2008 Feb 70 (7): 521-7. Chen-Plotkin A S, Yuan W, Anderson C, McCarty Wood E, Hurtig H I, Clark C M, Miller B L, Lee V M-Y, Trojanowski J Q, Grossman M, Van Deerlin V |
| Inherited susceptibility to bleomycin-induced micronuclei: correlating polymorphisms in GSTT1, GSTM1 and DNA repair genes with mutagen sensitivity. Mutation research 2008 Feb 638 (1-2): 90-7. Angelini Sabrina, Kumar Rajiv, Carbone Fabio, Bermejo Justo Lorenzo, Maffei Francesca, Cantelli-Forti Giorgio, Hemminki Kari, Hrelia Patriz |
| Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenatal diagnosis 2008 Mar 28 (3): 236-41. Fares Fuad, Badarneh Khader, Abosaleh Mohamed, Harari-Shaham Amalia, Diukman Roni, David Miri |
| TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 2011 Feb 76 (5): 467-74. Finch N, Carrasquillo M M, Baker M, Rutherford N J, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa K J, Karydas A M, Sengdy P, Gonzalez J, Seeley W W, Johnson N, Beach T G, Mesulam M, Forloni G, Kertesz A, Knopman D S, Uitti R, White C L, Caselli R, Lippa C, Bigio E H, Wszolek Z K, Binetti G, Mackenzie I R, Miller B L, Boeve B F, Younkin S G, Dickson D W, Petersen R C, Graff-Radford N R, Geschwind D H, Rademakers |
| High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. International journal of cancer. Journal international du cancer 2012 Jun 130 (12): 2867-73. Sokolenko Anna P, Iyevleva Aglaya G, Preobrazhenskaya Elena V, Mitiushkina Nathalia V, Abysheva Svetlana N, Suspitsin Evgeny N, Kuligina Ekatherina Sh, Gorodnova Tatiana V, Pfeifer Werner, Togo Alexandr V, Turkevich Elena A, Ivantsov Alexandr O, Voskresenskiy Dmitry V, Dolmatov Georgy D, Bit-Sava Elena M, Matsko Dmitry E, Semiglazov Vladimir F, Fichtner Iduna, Larionov Alexey A, Kuznetsov Sergey G, Antoniou Antonis C, Imyanitov Evgeny |
| Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS genetics 2012 Sep 8 (9): 9. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG |
| C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013 Oct 81 (15): 1332-41. van Blitterswijk Marka, Baker Matthew C, DeJesus-Hernandez Mariely, Ghidoni Roberta, Benussi Luisa, Finger Elizabeth, Hsiung Ging-Yuek R, Kelley Brendan J, Murray Melissa E, Rutherford Nicola J, Brown Patricia E, Ravenscroft Thomas, Mullen Bianca, Ash Peter E A, Bieniek Kevin F, Hatanpaa Kimmo J, Karydas Anna, Wood Elisabeth McCarty, Coppola Giovanni, Bigio Eileen H, Lippa Carol, Strong Michael J, Beach Thomas G, Knopman David S, Huey Edward D, Mesulam Marsel, Bird Thomas, White Charles L, Kertesz Andrew, Geschwind Dan H, Van Deerlin Vivianna M, Petersen Ronald C, Binetti Giuliano, Miller Bruce L, Petrucelli Leonard, Wszolek Zbigniew K, Boylan Kevin B, Graff-Radford Neill R, Mackenzie Ian R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study. Investigative ophthalmology & visual science 2013 Feb 54 (2): 1201-7. Su Shu, Yao Yong, Zhu Rongrong, Liang Congkai, Jiang Shengqun, Hu Nan, Zhou Jing, Yang Mei, Xing Qian, Guan Huaij |
| Mutational landscape of candidate genes in familial prostate cancer. The Prostate 2014 Oct 74 (14): 1371-8. Johnson Anna M, Zuhlke Kimberly A, Plotts Chris, McDonnell Shannon K, Middha Sumit, Riska Shaun M, Schaid Daniel J, Thibodeau Stephen N, Douglas Julie A, Cooney Kathleen |
| Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients. Cancer letters 2015 Apr 359 (2): 259-61. Sokolenko Anna P, Preobrazhenskaya Elena V, Aleksakhina Svetlana N, Iyevleva Aglaya G, Mitiushkina Natalia V, Zaitseva Olga A, Yatsuk Olga S, Tiurin Vladislav I, Strelkova Tatiana N, Togo Alexandr V, Imyanitov Evgeny |
| Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
| Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast cancer research : BCR 2017 Mar 19 (1): 30. Walker Logan C, Pearson John F, Wiggins George A R, Giles Graham G, Hopper John L, Southey Melissa |
| Identification of driver genes and somatic mutations in cell-free DNA of patients with pulmonary lymphangioleiomyomatosis. International journal of cancer 2019 6 146 (1): 103-114. Zhang Li, Wang Ming-Jie, Wang Wei, Zhao Jing-Ya, Wu Jia-Liang, Liu Yan-Pu, Zhu Hong, Qu Jie-Ming, Zhou M |
| Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer. Cancers 2019 10 11 (10): . Klu?niak Wojciech, Woko?orczyk Dominika, Rusak Bogna, Huzarski Tomasz, Kashyap Aniruddh, Stempa Klaudia, Rudnicka Helena, Jakubowska Anna, Szwiec Marek, Morawska Sylwia, Gliniewicz Katarzyna, Mordak Karina, Stawicka Ma?gorzata, Jarkiewicz-Tretyn Joanna, Cechowska Magdalena, Domaga?a Pawe?, D?bniak Tadeusz, Lener Marcin, Gronwald Jacek, Lubi?ski Jan, Narod Steven A, Akbari Mohammad R, Cybulski Ceza |
| A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients. Gastroenterology report 2021 Aug 9 (4): 339-349. Zhang Yin-Jie, Yang Yang, Wei Qing, Xu Ting, Zhang Xiao-Tian, Gao Jing, Tan Si-Yi, Liu Bao-Rui, Zhang Jing-Dong, Chen Xiao-Bing, Wang Zhao-Jie, Qiu Meng, Wang Xin, Shen Lin, Wang Xi-Che |
| Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma. Frontiers in oncology 2021 12 11 737547. Kong Wen, Yang Tongtong, Wen Xiaodong, Mu Zhongyi, Zhao Cheng, Han Sujun, Tian Jing, Zhang Xinhao, Zhou Tao, Zhang Yanrui, Lou Feng, Cao Shanbo, Wang Huina, Zhang J |
| The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
| Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis. Pathology 2023 9 . Yun Liang, Huajuan Ruan, Minghua Yu, Bingjian |
| Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
| BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers. Cancer medicine 2023 12 . Huiping Shi, Liang Gao, Hong Yin, Min Jia |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
- Page last reviewed:Feb 1, 2024
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