Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 69 Records) |
| Query Trace: KDM6A[original query] |
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| Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. European journal of pediatrics 2021 7 181 (1): 171-187. Di Candia Francesca, Fontana Paolo, Paglia Pamela, Falco Mariateresa, Rosano Carmen, Piscopo Carmelo, Cappuccio Gerarda, Siano Maria Anna, De Brasi Daniele, Mandato Claudia, De Maggio Ilaria, Squeo Gabriella Maria, Monica Matteo Della, Scarano Gioacchino, Lonardo Fortunato, Strisciuglio Pietro, Merla Giuseppe, Melis Danie |
| Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population. Frontiers in endocrinology 2021 12 695426. Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yuey |
| Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study. Frontiers in oncology 2021 5 11 538927. Li Dong-Yang, Yang Fei, Liao Wei-Qiang, Zhou Xiang-Fu, Li Wen-Biao, Cai Jia-Rong, Liu Bo-Long, Luo Yun, Zhan Hai-L |
| Significance of KDM6A mutation in bladder cancer immune escape. BMC cancer 2021 5 21 (1): 635. Chen Xingxing, Lin Xuehua, Pang Guofu, Deng Jian, Xie Qun, Zhang Zhengro |
| Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. American journal of medical genetics. Part A 2021 3 185 (6): 1666-1677. Mazen Inas, Mekkawy Mona, Kamel Alaa, Essawi Mona, Hassan Heba, Abdel-Hamid Mohamed, Amr Khalda, Soliman Hala, El-Ruby Mona, Torky Ahmed, El Gammal Mona, Elaidy Aya, Bashamboo Anu, McElreavey Kenne |
| Targeted next-generation sequencing for cancer-associated gene mutation and copy number detection in 206 patients with non-small-cell lung cancer. Bioengineered 2021 2 12 (1): 791-802. Zheng Songbai, Wang Xiaodan, Fu Ying, Li Beibei, Xu Jianhua, Wang Haifang, Huang Zhen, Xu Hui, Qiu Yurong, Shi Yaozhou, Li K |
| Genomic profiling of Chinese patients with urothelial carcinoma. BMC cancer 2021 Feb 21 (1): 162. Yang Bo, Zhao Xiao, Wan Chong, Ma Xin, Niu Shaoxi, Guo Aitao, Wang Jieli, Wang Jinliang, Sun Decong, Jiao Shuncha |
| Genomic Features of Muscle-invasive Bladder Cancer Arising After Prostate Radiotherapy. European urology 2021 12 81 (5): 466-473. Mossanen Matthew, Carvalho Filipe L F, Muralidhar Vinayak, Preston Mark A, Reardon Brendan, Conway Jake R, Curran Catherine, Freeman Dory, Sha Sybil, Sonpavde Guru, Hirsch Michelle, Kibel Adam S, Van Allen Eliezer M, Mouw Kent |
| Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm. Cancers 2021 12 13 (23): . Yin C Cameron, Pemmaraju Naveen, You M James, Li Shaoying, Xu Jie, Wang Wei, Tang Zhenya, Alswailmi Omar, Bhalla Kapil N, Qazilbash Muzaffar H, Konopleva Marina, Khoury Joseph |
| Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials. Haematologica 2021 11 107 (9): 2051-2063. Creasey Thomas, Barretta Emilio, Ryan Sarra L, Butler Ellie, Kirkwood Amy A, Leongamornlert Daniel, Papaemmanuil Elli, Patrick Pip, Clifton-Hadley Laura, Patel Bela, Menne Tobias, McMillan Andrew K, Harrison Christine J, Rowntree Clare J, Morley Nick, Marks David I, Fielding Adele K, Moorman Anthony |
| Genomic Sequencing for Bladder Urothelial Carcinoma and Its Clinical Implications for Immunotherapy. Cancer research and treatment 2021 11 54 (3): 894-906. Kim Ryul, Hong Jung Yong, Lee Jeeyun, Kwon Ghee Young, Jeong Byong Chang, Park Se Ho |
| Molecular differences between lymph nodes and distant metastases compared with primaries in colorectal cancer patients. NPJ precision oncology 2021 Oct 5 (1): 95. Puccini Alberto, Seeber Andreas, Xiu Joanne, Goldberg Richard M, Soldato Davide, Grothey Axel, Shields Anthony F, Salem Mohamed E, Battaglin Francesca, Berger Martin D, El-Deiry Wafik S, Tokunaga Ryuma, Naseem Madiha, Zhang Wu, Arora Sukeshi Patel, Khushman Moh'd M, Hall Michael J, Philip Philip A, Marshall John L, Korn W Michael, Lenz Heinz-Jos |
| Differences in genomic profile of high-grade urothelial carcinoma according to tumor location. Urologic oncology 2021 10 40 (3): 109.e1-109.e9. Park Cheol Keun, Cho Nam Ho |
| Mutation profile of non-small cell lung cancer revealed by next generation sequencing. Respiratory research 2021 Jan 22 (1): 3. Chang Ya-Sian, Tu Siang-Jyun, Chen Yu-Chia, Liu Ting-Yuan, Lee Ya-Ting, Yen Ju-Chen, Fang Hsin-Yuan, Chang Jan-Gow |
| Clonal hematopoiesis in adult pure red cell aplasia. Scientific reports 2021 1 11 (1): 2253. Fujishima Naohito, Kohmaru Junki, Koyota Souichi, Kuba Keiji, Saga Tomoo, Omokawa Ayumi, Moritoki Yuki, Ueki Shigeharu, Ishida Fumihiro, Nakao Shinji, Matsuda Akira, Ohta Akiko, Tohyama Kaoru, Yamasaki Hiroshi, Usuki Kensuke, Nakashima Yasuhiro, Sato Shinya, Miyazaki Yasushi, Nannya Yasuhito, Ogawa Seishi, Sawada Kenichi, Mitani Kinuko, Hirokawa Mako |
| Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype. American journal of medical genetics. Part A 2022 9 188 (10): 2976-2987. Usluer Esra, Say?n Gözde Ye?il, Güne? Nilay, Kasap Bu?ra, Tüysüz Beyh |
| Next-generation Sequencing Reveals Age-dependent Genetic Underpinnings in Lung adenocarcinoma. Journal of Cancer 2022 4 13 (5): 1565-1572. Wu Xiaonan, Zhao Jun, Yang Ling, Nie Xin, Wang Zheng, Zhang Ping, Li Chao, Hu Xueqing, Tang Min, Yi Yuting, Du Xinhua, Xia Xuefeng, Guan Yanfang, Yu Zicheng, Gu Wenguang, Quan Xiangming, Li Lin, Shi Ho |
| High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG 2022 12 . Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl |
| BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents. Medicina (Kaunas, Lithuania) 2022 12 58 (12): . Darabi Sourat, Braxton David R, Xiu Joanne, Carneiro Benedito A, Swensen Jeff, Antonarakis Emmanuel S, Liu Stephen V, McKay Rana R, Spetzler David, El-Deiry Wafik S, Demeure Michael |
| Genomic and Clinical Prognostic Factors in Patients With Advanced Urothelial Carcinoma Receiving Immune Checkpoint Inhibitors. Clinical genitourinary cancer 2022 12 21 (1): 69-75. Chawla Neal S, Sayegh Nicolas, Tripathi Nishita, Govindarajan Ameish, Zengin Zeynep B, Phillip Errol J, Dizman Nazli, Meza Luis, Muddasani Ramya, Chehrazi-Raffle Alexander, Malhotra Jasnoor, Hsu JoAnn, Agarwal Neeraj, Pal Sumanta K, Tripathi Abhish |
| Specific genomic alterations and prognostic analysis of perihilar cholangiocarcinoma and distal cholangiocarcinoma. Journal of gastrointestinal oncology 2021 Dec 12 (6): 2631-2642. Zheng Yuanwen, Qin Yejun, Gong Wei, Li Hongguang, Li Bin, Wang Yu, Chao Baoting, Zhao Shulei, Liu Luguang, Yao Shuzhan, Shi Junping, Shi Xiaoliang, Wang Kai, Xu Shife |
| Genomic landscape of TCR?? and TCR?? T-large granular lymphocyte leukemia. Blood 2022 1 139 (20): 3058-3072. Cheon HeeJin, Xing Jeffrey C, Moosic Katharine B, Ung Johnson, Chan Vivian W, Chung David S, Toro Mariella F, Elghawy Omar, Wang John S, Hamele Cait E, Hardison Ross C, Olson Thomas L, Tan Su-Fern, Feith David J, Ratan Aakrosh, Loughran Thomas |
| First report of medulloblastoma in a patient with MUTYH-associated polyposis. Neuropathology and applied neurobiology 2023 7 e12929. Marie-Charlotte Villy, Mathilde Warcoin, Mathilde Filser, Bruno Buecher, Lisa Golmard, Voreak Suybeng, Mathias Schwartz, Ivan Bieche, Sophie Vacher, Valérie Laurence, Franck Bourdeaut, Michèle Bernier, Tom Gutman, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Chrystelle Col |
| CDK12 alterations and ARID1A mutations are predictors of poor prognosis and therapeutic targets in high-grade salivary gland carcinoma: analysis of the National Genomic Profiling Database. Japanese journal of clinical oncology 2023 6 . Kenya Kobayashi, Yuki Saito, Hidenori Kage, Osamu Fukuoka, Koji Yamamura, Toshiyuki Mukai, Katsutoshi Oda, Tatsuya Yamaso |
| NEXT-GENERATION SEQUENCING-BASED GENOMIC PROFILING OF CHILDREN WITH ACUTE MYELOID LEUKEMIA. The Journal of molecular diagnostics : JMD 2023 4 . Szilvia Krizsán, Borbála Péterffy, Bálint Egyed, Tibor Nagy, Endre Sebestyén, Lajos László Hegyi, Zsuzsanna Jakab, Dániel J Erdélyi, Judit Müller, György Péter, Krisztina Csanádi, Krisztián Kállay, Gergely Kriván, Gábor Barna, Gábor Bedics, Irén Haltrich, Gábor Ottóffy, Katalin Csernus, Ágnes Vojcek, Lilla Györgyi Tiszlavicz, Krisztina Mita Gábor, Ágnes Kelemen, Péter Hauser, Zsuzsanna Gaál, István Szegedi, Anikó Ujfalusi, Béla Kajtár, Csongor Kiss, András Matolcsy, Botond Tímár, Gábor Kovács, Donát Alpár, Csaba Böd |
| Multi-omics analysis reveals critical metabolic regulators in bladder cancer. International urology and nephrology 2023 10 . Chengcheng Wei, Changqi Deng, Rui Dong, Yaxin Hou, Miao Wang, Liang Wang, Teng Hou, Zhaohui Ch |
| [Expression pattern of the histone lysine demethylase family and its potential role in bladder cancer: a multi-omics analysis]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2023 1 42 (12): 1822-1831. Fu X, Yu G, Guo |
| Poor prognosis among radiation associated bladder cancer is defined by clinicogenomic features. Cancer research communications 2024 8 . N Ari Wijetunga, Kathryn H Gessner, Krishna Kanchi, Jay A Moore, Zoe Fleischmann, Dexter X Jin, Garrett M Frampton, Michael Sturdivant, Michael Repka, Shivani Sud, David L Corcoran, Matthew D Galsky, Matthew I Milowsky, Sara E Wobker, William Y Kim, Tracy L Rose, Jeffrey S Damrau |
| Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma. Scientific reports 2024 7 14 (1): 15800. Jia Hwang, Hye Eun Lee, Jin Seon Han, Moon Hyung Choi, Sung Hoo Hong, Sae Woong Kim, Ji Hoon Yang, Unsang Park, Eun Sun Jung, Yeong Jin Ch |
| Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 2024 4 . Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan |
- Page last reviewed:Feb 1, 2024
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