Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: RAD21[original query] |
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Epigenomic elements analyses for promoters identify ESRRG as a new susceptibility gene for obesity-related traits. International journal of obesity (2005) 2016 07 40 (7): 1170-6. Dong S-S, Guo Y, Zhu D-L, Chen X-F, Wu X-M, Shen H, Chen X-D, Tan L-J, Tian Q, Deng H-W, Yang T |
Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia. British journal of haematology 2016 Jul . Shiba Norio, Yoshida Kenichi, Shiraishi Yuichi, Okuno Yusuke, Yamato Genki, Hara Yusuke, Nagata Yasunobu, Chiba Kenichi, Tanaka Hiroko, Terui Kiminori, Kato Motohiro, Park Myoung-Ja, Ohki Kentaro, Shimada Akira, Takita Junko, Tomizawa Daisuke, Kudo Kazuko, Arakawa Hirokazu, Adachi Souichi, Taga Takashi, Tawa Akio, Ito Etsuro, Horibe Keizo, Sanada Masashi, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhi |
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy. British journal of haematology 2016 Apr 173 (1): 49-58. Shen Wei, Szankasi Philippe, Sederberg Maria, Schumacher Jonathan, Frizzell Kimberly A, Gee Elaine P, Patel Jay L, South Sarah T, Xu Xinjie, Kelley Todd |
Copy number variations of circulating, cell-free DNA in urothelial carcinoma of the bladder patients treated with radical cystectomy: a prospective study. Oncotarget 2017 9 8 (34): 56398-56407. Soave Armin, Chun Felix K-H, Hillebrand Timo, Rink Michael, Weisbach Lars, Steinbach Bettina, Fisch Margit, Pantel Klaus, Schwarzenbach Hei |
Polymorphisms in mitotic checkpoint-related genes can influence survival outcomes of early-stage non-small cell lung cancer. Oncotarget 2017 Sep 8 (37): 61777-61785. Kang Hyo Gyoung, Yoo Seung Soo, Choi Jin Eun, Hong Mi Jeong, Do Sook Kyung, Jin Cheng Cheng, Kim Soyoun, Lee Won Kee, Choi Sun Ha, Lee So Yeon, Kim Hyun Jung, Lee Shin Yup, Lee Jaehee, Cha Seung Ick, Kim Chang Ho, Seok Yangki, Lee Eungbae, Cho Sukki, Jheon Sanghoon, Park Jae Yo |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 21 (3): 663-675. Yuan Bo, Neira Juanita, Pehlivan Davut, Santiago-Sim Teresa, Song Xiaofei, Rosenfeld Jill, Posey Jennifer E, Patel Vipulkumar, Jin Weihong, Adam Margaret P, Baple Emma L, Dean John, Fong Chin-To, Hickey Scott E, Hudgins Louanne, Leon Eyby, Madan-Khetarpal Suneeta, Rawlins Lettie, Rustad Cecilie F, Stray-Pedersen Asbjørg, Tveten Kristian, Wenger Olivia, Diaz Jullianne, Jenkins Laura, Martin Laura, McGuire Marianne, Pietryga Marguerite, Ramsdell Linda, Slattery Leah, , Abid Farida, Bertuch Alison A, Grange Dorothy, Immken LaDonna, Schaaf Christian P, Van Esch Hilde, Bi Weimin, Cheung Sau Wai, Breman Amy M, Smith Janice L, Shaw Chad, Crosby Andrew H, Eng Christine, Yang Yaping, Lupski James R, Xiao Rui, Liu Pengf |
[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 557-560. Mei Jin, Wang Min, Wang Xiaohua, Yao Ju |
[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 493-497. Miao Yequan, Zhu Yueyue, Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong, Ning Ying, Pan Qio |
The effect of aberrant expression and genetic polymorphisms of Rad21 on cervical cancer biology. Cancer medicine 2018 5 7 (7): 3393-3405. Xia Li, Wang Minjie, Li Hongying, Tang Xiangjing, Chen Fei, Cui Jinqu |
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics 2019 Jul . Aoi Hiromi, Mizuguchi Takeshi, Ceroni José Ricard, Kim Veronica Eun Hue, Furquim Isabel, Honjo Rachel S, Iwaki Takuma, Suzuki Toshifumi, Sekiguchi Futoshi, Uchiyama Yuri, Azuma Yoshiteru, Hamanaka Kohei, Koshimizu Eriko, Miyatake Satoko, Mitsuhashi Satomi, Takata Atsushi, Miyake Noriko, Takeda Satoru, Itakura Atsuo, Bertola Débora R, Kim Chong Ae, Matsumoto Naomic |
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. Journal of clinical pathology 2019 4 72 (8): 558-561. Fazio Grazia, Massa Valentina, Grioni Andrea, Bystry Vojtech, Rigamonti Silvia, Saitta Claudia, Galbiati Marta, Rizzari Carmelo, Consarino Caterina, Biondi Andrea, Selicorni Angelo, Cazzaniga Giovan |
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 2019 1 179 (2): 150-158. Dowsett Leah, Porras Antonio R, Kruszka Paul, Davis Brandon, Hu Tommy, Honey Engela, Badoe Eben, Thong Meow-Keong, Leon Eyby, Girisha Katta M, Shukla Anju, Nayak Shalini S, Shotelersuk Vorasuk, Megarbane Andre, Phadke Shubha, Sirisena Nirmala D, Dissanayake Vajira H W, Ferreira Carlos R, Kisling Monisha S, Tanpaiboon Pranoot, Uwineza Annette, Mutesa Leon, Tekendo-Ngongang Cedrik, Wonkam Ambroise, Fieggen Karen, Batista Leticia Cassimiro, Moretti-Ferreira Danilo, Stevenson Roger E, Prijoles Eloise J, Everman David, Clarkson Kate, Worthington Jessica, Kimonis Virginia, Hisama Fuki, Crowe Carol, Wong Paul, Johnson Kisha, Clark Robin D, Bird Lynne, Masser-Frye Diane, McDonald Marie, Willems Patrick, Roeder Elizabeth, Saitta Sulgana, Anyane-Yeoba Kwame, Demmer Laurie, Hamajima Naoki, Stark Zornitza, Gillies Greta, Hudgins Louanne, Dave Usha, Shalev Stavit, Siu Victoria, Ades Ann, Dubbs Holly, Raible Sarah, Kaur Maninder, Salzano Emanuela, Jackson Laird, Deardorff Matthew, Kline Antonie, Summar Marshall, Muenke Maximilian, Linguraru Marius George, Krantz Ian |
Machine learning derived genomics driven prognostication for acute myeloid leukemia with RUNX1-RUNX1T1. Leukemia & lymphoma 2020 8 61 (13): 3154-3160. Shaikh Anam Fatima, Kakirde Chinmayee, Dhamne Chetan, Bhanshe Prasanna, Joshi Swapnali, Chaudhary Shruti, Chatterjee Gaurav, Tembhare Prashant, Prasad Maya, Roy Moulik Nirmalya, Gokarn Anant, Bonda Avinash, Nayak Lingaraj, Punatkar Sachin, Jain Hasmukh, Bagal Bhausaheb, Shetty Dhanalaxmi, Sengar Manju, Narula Gaurav, Khattry Navin, Banavali Shripad, Gujral Sumeet, P G Subramanian, Patkar Nikh |
High Throughput Molecular Characterization of Normal Karyotype Acute Myeloid Leukemia in the Context of the Prospective Trial 02/06 of the Northern Italy Leukemia Group (NILG). Cancers 2020 8 12 (8): . Salmoiraghi Silvia, Cavagna Roberta, Zanghì Pamela, Pavoni Chiara, Michelato Anna, Buklijas Ksenija, Elidi Lara, Intermesoli Tamara, Lussana Federico, Oldani Elena, Caprioli Chiara, Stefanoni Paola, Gianfaldoni Giacomo, Audisio Ernesta, Terruzzi Elisabetta, De Paoli Lorella, Borlenghi Erika, Cavattoni Irene, Mattei Daniele, Scattolin Annamaria, Tajana Monica, Ciceri Fabio, Todisco Elisabetta, Campiotti Leonardo, Corradini Paolo, Fracchiolla Nicola, Bassan Renato, Rambaldi Alessandro, Spinelli Oriet |
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome. American journal of medical genetics. Part A 2020 6 182 (7): 1690-1696. Cucco Francesco, Sarogni Patrizia, Rossato Sara, Alpa Mirella, Patimo Alessandra, Latorre Ana, Magnani Cinzia, Puisac Beatriz, Ramos Feliciano J, Pié Juan, Musio Anton |
[Genetic variant analysis of a neonate with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 449-451. Sun Yuanyuan, Chen Cuie, Di Tianwei, Shao Haoran, Zhu Ronghe, Zhu Yanke, Zhou Aihua, Wang Q |
Clinical impact of clonal hematopoiesis in patients with lymphoma undergoing ASCT: a national population-based cohort study. Leukemia 2020 Mar . Husby Simon, Favero Francesco, Nielsen Christian, Sørensen Betina S, Bæch John, Grell Kathrine, Hansen Jakob W, Rodriguez-Gonzalez Francisco G, Haastrup Eva K, Fischer-Nielsen Anne, Andersen Pernille, Arboe Bente, Sækmose Susanne G, Hansen Per B, Christiansen Ilse, Clasen-Linde Erik, Meldgaard Lene, Ebbesen Lene H, Segel Erik K, Josefsson Pär, Thorsgaard Michael, El-Galaly Tarec C, Brown Peter, Weischenfeldt Joachim, Larsen Thomas S, Grønbæk Kirst |
Regulatory variants at 2q33.1 confer schizophrenia risk by modulating distal gene TYW5 expression. Brain : a journal of neurology 2021 9 145 (2): 770-786. Li Shiwu, Li Jiao, Liu Jiewei, Wang Junyang, Li Xiaoyan, Huo Yongxia, Li Yifan, Liu Yixing, Li Ming, Xiao Xiao, Luo Xiong-Ji |
Clinicopathologic and Genomic Landscape of Breast Carcinoma Brain Metastases. The oncologist 2021 Jun . Huang Richard S P, Haberberger James, McGregor Kimberly, Mata Douglas A, Decker Brennan, Hiemenz Matthew C, Lechpammer Mirna, Danziger Natalie, Schiavone Kelsie, Creeden James, Graf Ryon P, Strowd Roy, Lesser Glenn J, Razis Evangelia D, Bartsch Rupert, Giannoudis Athina, Bhogal Talvinder, Lin Nancy U, Pusztai Lajos, Ross Jeffrey S, Palmieri Carlo, Ramkissoon Shakti |
Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients. Clinical epigenetics 2021 Apr 13 (1): 77. Stomper Julia, Meier Ruth, Ma Tobias, Pfeifer Dietmar, Ihorst Gabriele, Blagitko-Dorfs Nadja, Greve Gabriele, Zimmer Dennis, Platzbecker Uwe, Hagemeijer Anne, Schmitt-Graeff Ingrid, Lübbert Micha |
Whole Exome Sequencing Identifies Cohesin Component STAG1 Mutation in de novo Acute Myeloid Leukemia (FAB M2): A Pilot Study with Cytogenetics, Clinical and Prognostic Implications. Journal of environmental pathology, toxicology and oncology : official organ of the International Society for Environmental Toxicology and Cancer 2021 2 40 (1): 51-64. Sakthivel Kunnathur Murugesan, Geetha Narayanan, Raj Thampirajan Vimaladevi Akhila, Chandran Ramachandran Krishna, Krishna Kumarapillai Mohanan Nair Jagathnath, Sreedharan Harihar |
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 |
Early-onset metastatic and clinically advanced prostate cancer is a distinct clinical and molecular entity characterized by increased TMPRSS2-ERG fusions. Prostate cancer and prostatic diseases 2021 Jan . Chalmers Zachary R, Burns Michael C, Ebot Ericka M, Frampton Garrett M, Ross Jeffrey S, Hussain Maha H A, Abdulkadir Sarki |
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation. Leukemia research 2022 5 118 106859. Liu Jie, Qin Wei, Wang Biao, Wang Zheng, Hua Haiying, Zhou Feng, Jia Zhuxia, Wu Pin, Chao Hongying, Lu Xuzha |
Genome-wide association studies in Japanese women identified genetic loci associated with wrinkles and sagging. Experimental dermatology 2022 5 31 (9): 1411-1420. Okuno Ryosuke, Inoue Yu, Hasebe Yuichi, Igarashi Toshio, Kawagishi-Hotta Mika, Yamada Takaaki, Hasegawa Sei |
The role of clonal hematopoiesis as driver of therapy-related myeloid neoplasms after autologous stem cell transplantation. Annals of hematology 2022 4 101 (6): 1227-1237. Gramegna Doriana, Bertoli Diego, Cattaneo Chiara, Almici Camillo, Re Alessandro, Belotti Angelo, Borlenghi Erika, Lanzi Gaetana, Archetti Silvana, Verardi Rosanna, Brugnoni Duilio, Sciumè Margherita, Daffini Rosa, Roccaro Aldo M, Tucci Alessandra, Rossi Giusep |
Interaction between cigarette smoking and genetic polymorphisms on the associations with age of natural menopause and reproductive lifespan: the Singapore Chinese Health Study. Human reproduction (Oxford, England) 2022 4 37 (6): 1351-1359. Huang Zhongwei, Chang Xuling, Wang Ling, Liu Jianjun, Heng Chew-Kiat, Khor Chiea-Chuen, Yuan Jian-Min, Koh Woon-Puay, Dorajoo Rajkum |
Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes.
Communications biology 2022 11 5 (1): 1175. Lee Chia-Jung, Chen Ting-Huei, Lim Aylwin Ming Wee, Chang Chien-Ching, Sie Jia-Jyun, Chen Pei-Lung, Chang Su-Wei, Wu Shang-Jung, Hsu Chia-Lin, Hsieh Ai-Ru, Yang Wei-Shiung, Fann Cathy S |
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. American journal of medical genetics. Part A 2023 6 . Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko Yamamoto, Emma Schindler, Zayd Al Rawi, Nina Wallace, Jonathan J Wilde, Jennifer McCallum, Jinglan Liu, Dongbin Xu, Marie Jackson, Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar Abdul-Rahman, Bill Allen, Moris A Angula, Kwame Anyane-Yeboa, Jesús Argente, Pamela H Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M Bird, Daniel Bruegger, Gaik-Siew Ch'ng, David Chitayat, Robin Clark, Gerald F Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M Graham, Karen W Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J Hopkin, Kenneth L Jones, Marilyn C Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John Moeschler, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F Rope, Karan Sangha, Angela E Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G Wheeler, Susan M White, Terri Young, Kathleen M Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D Kline, Kosuke Izumi, Sarah E Raible, Ian D Kran |
Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
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- Page last updated:Apr 22, 2024
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