Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 212 Records) |
| Query Trace: Ataxia Telangiectasia[original query] |
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| The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis. Cancer cell international 2021 Sep 21 (1): 474. Moslemi Masoumeh, Vafaei Maryam, Khani Pouria, Soheili Marzieh, Nedaeinia Reza, Manian Mostafa, Moradi Yousef, Sohrabi Ehs |
| Association of SLC22A1 rs622342 and ATM rs11212617 polymorphisms with metformin efficacy in patients with type 2 diabetes. Pharmacogenetics and genomics 2021 Sep . Chen Peixian, Cao Yumin, Guo Yali, Xu Qi, Wang Xiaozhu, Zhang Liuwei, Liu Zhike, Chen Dafang, Chen Shiyi, Chen Shenr |
| The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers. Archives of medical science : AMS 2021 9 17 (5): 1158-1163. Podralska Marta, Dzikiewicz-Krawczyk Agnieszka, Mosor Maria, ?urawek Magdalena, I?ykowska Katarzyna, S?omski Ryszard, Rydzanicz Ma?gorzata, Gabryel Piotr, Dyszkiewicz Wojciech, Zió?kowska-Suchanek Iwo |
| Decreased ATM Protein Expression Is Substantiated with PTEN Loss in Defining Aggressive Phenotype of Prostate Cancer Associated with Lethal Disease. European urology open science 2021 8 29 93-101. Walker Simon R, Abdelsalam Ramy, Ghosh Sunita, Livingstone Julie, Palanisamy Nallasivam, Boutros Paul C, Yip Steven M, Lees-Miller Susan P, Bismar Tarek |
| Low prevalence and independent prognostic role of del(11q) in Chinese patients with chronic lymphocytic leukemia. Translational oncology 2021 Jul 14 (10): 101176. Zou Yi-Xin, Tang Han-Ning, Zhang Jing, Tang Xiao-Lu, Qin Shu-Chao, Xia Yi, Zhu Hua-Yuan, Qiao Chun, Wang Li, Fan Lei, Xu Wei, Li Jian-Yong, Miao |
| Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7 23 (11): 2087-2095. Dalmasso B, Pastorino L, Nathan V, Shah N N, Palmer J M, Howlie M, Johansson P A, Freedman N D, Carter B D, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos A J, Helsing P, Van Doorn R, Gruis N A, Visser M, Wadt K A W, Mann G, Holland E A, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli M C, Calista D, Soufir N, Harland M, Bishop T, Kanetsky P A, Elder D E, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker M A, Yang X R, Andresen P A, Adams D J, Landi M T, Hayward N K, Goldstein A M, Ghiorzo P, , |
| The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice. Genes 2021 6 12 (5): . Stucci Luigia Stefania, Internò Valeria, Tucci Marco, Perrone Martina, Mannavola Francesco, Palmirotta Raffaele, Porta Camil |
| Mutant Single Nucleotide Polymorphism rs189037 in Ataxia-Telangiectasia Mutated Gene Is Significantly Associated With Ventricular Wall Thickness and Human Lifespan. Frontiers in cardiovascular medicine 2021 8 658908. Fu Shihui, Hu Jianqiu, Chen Xiaoping, Li Bo, Shun Hongjuan, Deng Juelin, Zhang Yujie, Yao Yao, Zhao Ya |
| In Silico-Analysis of the Multi-Omics Data Identified the Ataxia Telangiectasia Mutated Gene as a Potential Biomarker of Breast Invasive Carcinoma. Genetic testing and molecular biomarkers 2021 4 25 (4): 263-275. Karamat Uzma, Ejaz Samina, Hameed Yas |
| A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation. Journal of pediatric neurosciences 2021 2 15 (3): 283-285. Mahale Rohan R, Reddy Nishanth, Mathuranth Pavagada, Mailankody Pooja, Padmanabha Hansashree, Retnaswami Chandra Sadnaval |
| A phase 1b study evaluating the safety and preliminary efficacy of berzosertib in combination with gemcitabine in patients with advanced non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 2021 12 163 19-26. Plummer Ruth, Dean Emma, Arkenau Hendrik-Tobias, Redfern Charles, Spira Alexander I, Melear Jason M, Chung Ki Y, Ferrer-Playan Jordi, Goddemeier Thomas, Locatelli Giuseppe, Dong Jennifer, Fleuranceau-Morel Patricia, Diaz-Padilla Ivan, Shapiro Geoffrey |
| Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients. Journal of clinical immunology 2021 Oct . Amirifar Parisa, Mehrmohamadi Mahya, Ranjouri Mohammad Reza, Akrami Seyed Mohammad, Rezaei Nima, Saberi Ali, Yazdani Reza, Abolhassani Hassan, Aghamohammadi Asgh |
| BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A. Cancer science 2022 9 113 (12): 4230-4243. Qi Huicheng, Kikuchi Megumi, Yoshino Yuki, Fang Zhenzhou, Ohashi Kazune, Gotoh Takato, Ideta Ryo, Ui Ayako, Endo Shino, Otsuka Kei, Shindo Norihisa, Gonda Kohsuke, Ishioka Chikashi, Miki Yoshio, Iwabuchi Tokuro, Chiba Natsu |
| ATM c.7570G>C is a high-risk allele for breast cancer. International journal of cancer 2022 9 152 (3): 429-435. Kankuri-Tammilehto Minna, Tervasmäki Anna, Kraatari-Tiri Minna, Rahikkala Elisa, Pylkäs Katri, Kuismin Ou |
| Molecular Features in Lymphatic Metastases Reflect the Metastasis Mechanism of Lymph Nodes With Non-Small-Cell Lung Cancers. Frontiers in bioengineering and biotechnology 2022 10 909388. Guo Nannan, Chen Yuanyuan, Jing Zhongying, Liu Siyao, Su Junyan, Li Ruilin, Duan Xiaohong, Chen Zhigong, Chen Ping, Yin Rongjiang, Li Shaojun, Tang Ji |
| Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers. British journal of haematology 2022 8 199 (3): 371-381. Petrackova Anna, Savara Jakub, Turcsanyi Peter, Gajdos Petr, Papajik Tomas, Kriegova E |
| Phase II study of ceralasertib (AZD6738) in combination with durvalumab in patients with advanced gastric cancer. Journal for immunotherapy of cancer 2022 7 10 (7): . Kwon Minsuk, Kim Gahyun, Kim Ryul, Kim Kyu-Tae, Kim Seung Tae, Smith Simon, Mortimer Peter G S, Hong Jung Yong, Loembé Arsene-Bienvenu, Irurzun-Arana Itziar, Koulai Loumpiana, Kim Kyoung-Mee, Kang Won Ki, Dean Emma, Park Woong-Yang, Lee Jeey |
| Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394?694 UK Biobank exomes. Genes, chromosomes & cancer 2022 4 61 (9): 523-529. Jiang Xiao, O'Neill Amanda, Smith Katherine R, Lai Zhongwu, Carss Keren, Wang Quanli, Petrovski Sla |
| Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India. Scientific reports 2022 3 12 (1): 4036. Rawat Amit, Tyagi Rahul, Chaudhary Himanshi, Pandiarajan Vignesh, Jindal Ankur Kumar, Suri Deepti, Gupta Anju, Sharma Madhubala, Arora Kanika, Bal Amanjit, Madaan Priyanka, Saini Lokesh, Sahu Jitendra Kumar, Ogura Yumi, Kato Tamaki, Imai Kohsuke, Nonoyama Shigeaki, Singh Surj |
| Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene. Journal of the Endocrine Society 2022 3 6 (4): bvac026. Miasaki Fabíola Y, Saito Kelly C, Yamamoto Guilherme L, Boguszewski César L, de Carvalho Gisah A, Kimura Edna T, Kopp Peter |
| Low PARP-1 expression level is an indicator of poor prognosis in patients with stage II and III gastric cancer. Journal of Cancer 2022 2 13 (3): 869-876. Park Song Ee, Kim Hee Sung, Jung Eun-Jung, Suh Ja Hee, Min Hyeyoung, Chi Kyong-Choun, Kim Jong Won, Park Joong-Min, Hwang In G |
| Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. International journal of molecular sciences 2022 12 23 (24): . Pastorino Lorenza, Dalmasso Bruna, Allavena Eleonora, Vanni Irene, Ugolini Filippo, Baroni Gianna, Croce Michela, Guadagno Antonio, Cabiddu Francesco, Andreotti Virginia, Bruno William, Zoppoli Gabriele, Ferrando Lorenzo, Tanda Enrica Teresa, Spagnolo Francesco, Menin Chiara, Gangemi Rosaria, Massi Daniela, Ghiorzo Pao |
| Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 10 41 (5): 1116-1128. Lampson Benjamin L, Gupta Aditi, Tyekucheva Svitlana, Mashima Kiyomi, Petrá?ková Anna, Wang Zixu, Wojciechowska Natalia, Shaughnessy Conner J, Baker Peter O, Fernandes Stacey M, Shupe Samantha, Machado John-Hanson, Fardoun Rayan, Kim Annette S, Brown Jennifer |
| Mutational profiling of circulating tumor DNA and clinical characteristics in lymphoma: Based on next generation sequencing. Molecular carcinogenesis 2022 10 62 (2): 200-209. Hou Yue, Zi Jie, Liu Shuo, Ge Qinyu, Ge Zhe |
| PIK3CA mutations associated with a poor postoperative prognosis in patients with pulmonary pleomorphic carcinoma: a retrospective cohort study. BMC cancer 2022 Oct 22 (1): 1066. Kojima Kensuke, Imai Saki, Samejima Hironobu, Fujiwara Ayako, Tokunaga Toshiteru, Yoon Hyungeun, Okishio Kyoic |
| Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment. European journal of cancer (Oxford, England : 1990) 2022 1 163 44-54. Sculco Marika, La Vecchia Marta, Aspesi Anna, Pinton Giulia, Clavenna Michela G, Casalone Elisabetta, Allione Alessandra, Grosso Federica, Libener Roberta, Muzio Alberto, Rena Ottavio, Baietto Guido, Parini Sara, Boldorini Renzo, Giachino Daniela, Papotti Mauro, Scagliotti Giorgio V, Migliore Enrica, Mirabelli Dario, Moro Laura, Magnani Corrado, Ferrante Daniela, Matullo Giuseppe, Dianzani Ir |
| Clinical Implication of DNA Damage Response Genes in Advanced Gastric Cancer Stage IV and Recurrent Gastric Cancer Patients After Gastrectomy Treated Palliative Chemotherapy. Journal of Cancer 2023 5 14 (7): 1216-1222. Jeong Eun Kim, Song Ee Park, Hee Jun Kim, In Gyu Hwa |
| The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
| Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. European journal of medical genetics 2023 4 104766. Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Dan |
| Whole exome sequencing in Chinese mucinous pulmonary adenocarcinoma uncovers specific genetic variations different from lung adenocarcinoma. Frontiers in oncology 2023 1 12 1054845. Zhang Chenyue, Wang Kai, Liu Wenjie, Lin Jiamao, Li Zhenxiang, Wang Hui, Zhao Chenglong, Chen Yanhua, Wu Shuangxiu, Yang Airong, Wu Jiayan, Wang Haiyo |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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