Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: DUX4[original query] |
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. American journal of human genetics 2012 Apr 90 (4): 628-35. Scionti Isabella, Greco Francesca, Ricci Giulia, Govi Monica, Arashiro Patricia, Vercelli Liliana, Berardinelli Angela, Angelini Corrado, Antonini Giovanni, Cao Michelangelo, Di Muzio Antonio, Moggio Maurizio, Morandi Lucia, Ricci Enzo, Rodolico Carmelo, Ruggiero Lucia, Santoro Lucio, Siciliano Gabriele, Tomelleri Giuliano, Trevisan Carlo Pietro, Galluzzi Giuliana, Wright Woodring, Zatz Mayana, Tupler Rossel |
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain : a journal of neurology 2013 Nov 136 (Pt 11): 3408-17. Ricci Giulia, Scionti Isabella, Sera Francesco, Govi Monica, D'Amico Roberto, Frambolli Ilaria, Mele Fabiano, Filosto Massimiliano, Vercelli Liliana, Ruggiero Lucia, Berardinelli Angela, Angelini Corrado, Antonini Giovanni, Bucci Elisabetta, Cao Michelangelo, Daolio Jessica, Di Muzio Antonio, Di Leo Rita, Galluzzi Giuliana, Iannaccone Elisabetta, Maggi Lorenzo, Maruotti Valerio, Moggio Maurizio, Mongini Tiziana, Morandi Lucia, Nikolic Ana, Pastorello Ebe, Ricci Enzo, Rodolico Carmelo, Santoro Lucio, Servida Maura, Siciliano Gabriele, Tomelleri Giuliano, Tupler Rossel |
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy. Nucleic acids research 2015 Jul . Kim Elena, Rich Jeremy, Karoutas Adam, Tarlykov Pavel, Cochet Emilie, Malysheva Daria, Mamchaoui Kamel, Ogryzko Vasily, Pirozhkova Iry |
Genomic landscape of pediatric B-other acute lymphoblastic leukemia in a consecutive European cohort. Haematologica 2019 Jan . Zaliova Marketa, Stuchly Jan, Winkowska Lucie, Musilova Alena, Fiser Karel, Slamova Martina, Starkova Julia, Vaskova Martina, Hrusak Ondrej, Sramkova Lucie, Stary Jan, Zuna Jan, Trka J |
Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia. Blood advances 2020 Oct 4 (20): 5165-5173. Ueno Hiroo, Yoshida Kenichi, Shiozawa Yusuke, Nannya Yasuhito, Iijima-Yamashita Yuka, Kiyokawa Nobutaka, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Isobe Tomoya, Seki Masafumi, Kimura Shunsuke, Makishima Hideki, Nakagawa Masahiro M, Kakiuchi Nobuyuki, Kataoka Keisuke, Yoshizato Tetsuichi, Nishijima Dai, Deguchi Takao, Ohki Kentaro, Sato Atsushi, Takahashi Hiroyuki, Hashii Yoshiko, Tokimasa Sadao, Hara Junichi, Kosaka Yoshiyuki, Kato Koji, Inukai Takeshi, Takita Junko, Imamura Toshihiko, Miyano Satoru, Manabe Atsushi, Horibe Keizo, Ogawa Seishi, Sanada Masas |
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy. Journal of neuromuscular diseases 2021 8 9 (1): 83-93. Gros Marilyn, Nunes Andreia M, Daoudlarian Douglas, Pini Jonathan, Martinuzzi Emanuela, Barbosa Susana, Ramirez Monique, Puma Angela, Villa Luisa, Cavalli Michele, Grecu Nicolae, Garcia Jérémy, Siciliano Gabriele, Solé Guilhem, Juntas-Morales Raul, Jones Peter L, Jones Takako, Glaichenhaus Nicolas, Sacconi Sabri |
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL. Blood 2021 4 138 (11): 948-958. Paietta Elisabeth, Roberts Kathryn G, Wang Victoria, Gu Zhaohui, Buck Georgina A N, Pei Deqing, Cheng Cheng, Levine Ross L, Abdel-Wahab Omar, Cheng Zhongshan, Wu Gang, Qu Chunxu, Shi Lei, Pounds Stanley, Willman Cheryl L, Harvey Richard, Racevskis Janis, Barinka Jan, Zhang Yanming, Dewald Gordon W, Ketterling Rhett P, Alejos David, Lazarus Hillard M, Luger Selina M, Foroni Letizia, Patel Bela, Fielding Adele K, Melnick Ari, Marks David I, Moorman Anthony V, Wiernik Peter H, Rowe Jacob M, Tallman Martin S, Goldstone Anthony H, Mullighan Charles G, Litzow Mark |
The genomic landscape of pediatric acute lymphoblastic leukemia. Nature genetics 2022 9 54 (9): 1376-1389. Brady Samuel W, Roberts Kathryn G, Gu Zhaohui, Shi Lei, Pounds Stanley, Pei Deqing, Cheng Cheng, Dai Yunfeng, Devidas Meenakshi, Qu Chunxu, Hill Ashley N, Payne-Turner Debbie, Ma Xiaotu, Iacobucci Ilaria, Baviskar Pradyuamna, Wei Lei, Arunachalam Sasi, Hagiwara Kohei, Liu Yanling, Flasch Diane A, Liu Yu, Parker Matthew, Chen Xiaolong, Elsayed Abdelrahman H, Pathak Omkar, Li Yongjin, Fan Yiping, Michael J Robert, Rusch Michael, Wilkinson Mark R, Foy Scott, Hedges Dale J, Newman Scott, Zhou Xin, Wang Jian, Reilly Colleen, Sioson Edgar, Rice Stephen V, Pastor Loyola Victor, Wu Gang, Rampersaud Evadnie, Reshmi Shalini C, Gastier-Foster Julie, Guidry Auvil Jaime M, Gesuwan Patee, Smith Malcolm A, Winick Naomi, Carroll Andrew J, Heerema Nyla A, Harvey Richard C, Willman Cheryl L, Larsen Eric, Raetz Elizabeth A, Borowitz Michael J, Wood Brent L, Carroll William L, Zweidler-McKay Patrick A, Rabin Karen R, Mattano Leonard A, Maloney Kelly W, Winter Stuart S, Burke Michael J, Salzer Wanda, Dunsmore Kimberly P, Angiolillo Anne L, Crews Kristine R, Downing James R, Jeha Sima, Pui Ching-Hon, Evans William E, Yang Jun J, Relling Mary V, Gerhard Daniela S, Loh Mignon L, Hunger Stephen P, Zhang Jinghui, Mullighan Charles |
Efficient silencing of the multicopy DUX4 gene by ABE-mediated start codon mutation in human embryos. Journal of genetics and genomics = Yi chuan xue bao 2022 3 49 (10): 982-985. Liu Yubing, Lu Xinmei, Ye Min, Wang Ling, Tang Rongxin, Yang Zhiyong, Turathum Bongkoch, Liu Chenchen, Xue Yujing, Wu Menghua, Yang Yannan, Gao Ermeng, Zhang Di, Yang Feng, Kee Keh-Kooi, Huang Xingxu, Li Guanglei, Chian Ri-Che |
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors. The Journal of molecular diagnostics : JMD 2023 7 . Harrison K Tsai, Tasos Gogakos, Va Lip, Jonathan M Tsai, Yen-Der Li, Adam S Fisch, Jonathan Weiss, Weiping Yang, Leslie Grimmett, Daniel DiToro, Eva J Schaefer, R Coleman Lindsley, Thai Hoa Tran, Maxime Caron, Sylvie Langlois, Daniel Sinnett, Yana Pikman, Valentina Nardi, Annette S Kim, Lewis B Silverman, Marian H Harr |
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. Neurology. Genetics 2023 11 9 (6): e200107. Naga M Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Heg |
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