Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Syndrome and BLM[original query] |
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Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. The Israel Medical Association journal : IMAJ 2002 Feb 4 (2): 95-7. Peleg Leah, Pesso Rachel, Goldman Boleslaw, Dotan Keren, Omer Merav, Friedman Eitan, Berkenstadt Michal, Reznik-Wolf Haike, Barkai G |
Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer research 2003 Apr 63 (8): 1769-71. Cleary Sean P, Zhang William, Di Nicola Nando, Aronson Melyssa, Aube Jennifer, Steinman Amanda, Haddad Riad, Redston Mark, Gallinger Steven, Narod Steven A, Gryfe Robe |
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. American journal of hematology 2005 Mar 78 (3): 203-6. Koren-Michowitz M, Friedman E, Gershoni-Baruch R, Brok-Simoni F, Patael Y, Rechavi G, Amariglio |
Genetic variant of the human homologous recombination-associated gene RMI1 (S455N) impacts the risk of AML/MDS and malignant melanoma. Cancer letters 2007 Dec 258 (1): 38-44. Broberg Karin, Höglund Mattias, Gustafsson Cecilia, Björk Jonas, Ingvar Christian, Albin Maria, Olsson Håk |
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 |
Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. BMC cancer 2009 9 (1): 140. Broberg Karin, Huynh Elizabeth, Schläwicke Engström Karin, Björk Jonas, Albin Maria, Ingvar Christian, Olsson Håkan, Höglund Matti |
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 |
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast cancer research and treatment 2013 Jan 137 (2): 533-9. Prokofyeva Darya, Bogdanova Natalia, Dubrowinskaja Natalia, Bermisheva Marina, Takhirova Zalina, Antonenkova Natalia, Turmanov Nurzhan, Datsyuk Ihor, Gantsev Shamil, Christiansen Hans, Park-Simon Tjoung-Won, Hillemanns Peter, Khusnutdinova Elza, Dörk Thi |
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 |
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. Scientific reports 2015 5 14060. de Voer Richarda M, Hahn Marc-Manuel, Mensenkamp Arjen R, Hoischen Alexander, Gilissen Christian, Henkes Arjen, Spruijt Liesbeth, van Zelst-Stams Wendy A, Marleen Kets C, Verwiel Eugene T, Nagtegaal Iris D, Schackert Hans K, van Kessel Ad Geurts, Hoogerbrugge Nicoline, Ligtenberg Marjolijn J L, Kuiper Roland |
Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. Human pathology 2018 7 82 20-31. Meiss Alice E, Thomas Martha, Modesitt Susan C, Ring Kari L, Atkins Kristen A, Mills Anne |
Molecular mutation characteristics of mismatch and homologous recombination repair genes in gastrointestinal cancer. Oncology letters 2019 8 18 (3): 2789-2798. Liu Xingcun, Yang Haiping, Wu Xiaohong, Huang Kai, Ma Paul, Jiang Pengpeng, Zheng Weiqing, Tang Tom, Liu Duju |
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 8 32 (Supplementum2): 6-13. Foretová Lenka, Navrátilová Marie, Svoboda Marek, Vaší?ková Petra, S?ahlová Eva Hrabincová, Házová Jana, Kleiblová Petra, Kleibl Zden?k, Machá?ková Eva, Palácová Markéta, Petráková Katarí |
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. Schizophrenia bulletin 2019 5 46 (2): 328-335. Balakrishna Thivia, Curtis Dav |
Germline BLM mutations and metastatic prostate cancer. The Prostate 2019 Nov . Ledet Elisa M, Antonarakis Emmanuel S, Isaacs William B, Lotan Tamara L, Pritchard Colin, Sartor A Oliv |
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 |
Werner Syndrome Protein Expression in Breast Cancer. Clinical breast cancer 2020 9 21 (1): 57-73.e7. Savva Constantinos, Sadiq Maaz, Sheikh Omar, Karim Syed, Trivedi Sachin, Green Andrew R, Rakha Emad A, Madhusudan Srinivasan, Arora Arvi |
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. NPJ breast cancer 2020 6 6 25. Kaneyasu Tomoko, Mori Seiichi, Yamauchi Hideko, Ohsumi Shozo, Ohno Shinji, Aoki Daisuke, Baba Shinichi, Kawano Junko, Miki Yoshio, Matsumoto Naomichi, Nagasaki Masao, Yoshida Reiko, Akashi-Tanaka Sadako, Iwase Takuji, Kitagawa Dai, Masuda Kenta, Hirasawa Akira, Arai Masami, Takei Junko, Ide Yoshimi, Gotoh Osamu, Yaguchi Noriko, Nishi Mitsuyo, Kaneko Keika, Matsuyama Yumi, Okawa Megumi, Suzuki Misato, Nezu Aya, Yokoyama Shiro, Amino Sayuri, Inuzuka Mayuko, Noda Tetsuo, Nakamura Sei |
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. Proceedings of the National Academy of Sciences of the United States of America 2020 12 117 (52): 33466-33473. Bononi Angela, Goto Keisuke, Ak Guntulu, Yoshikawa Yoshie, Emi Mitsuru, Pastorino Sandra, Carparelli Lorenzo, Ferro Angelica, Nasu Masaki, Kim Jin-Hee, Suarez Joelle S, Xu Ronghui, Tanji Mika, Takinishi Yasutaka, Minaai Michael, Novelli Flavia, Pagano Ian, Gaudino Giovanni, Pass Harvey I, Groden Joanna, Grzymski Joseph J, Metintas Muzaffer, Akarsu Muhittin, Morrow Betsy, Hassan Raffit, Yang Haining, Carbone Miche |
Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. International journal of molecular sciences 2023 4 24 (7): . Savkova Alina, Gulyaeva Lyudmila, Gerasimov Aleksey, Krasil'nikov Serg |
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome. Journal of human genetics 2023 1 . Kaneko Hideo, Kawase Chizuru, Seki Junko, Ikawa Yasuhiro, Yachie Akihiro, Funato Michino |
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