Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and SETBP1[original query] |
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| Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression. American journal of hematology 2014 Feb 89 (2): 181-6. Hou Hsin-An, Kuo Yuan-Yeh, Tang Jih-Luh, Chou Wen-Chien, Yao Ming, Lai Yan-Jun, Lin Chien-Chin, Chen Chien-Yuan, Liu Chieh-Yu, Tseng Mei-Hsuan, Huang Chi-Fei, Chiang Ying-Chieh, Lee Fen-Yu, Liu Ming-Chih, Liu Chia-Wen, Huang Shang-Yi, Ko Bor-Sheng, Wu Shang-Ju, Tsay Woei, Chen Yao-Chang, Tien Hwei-Fa |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature genetics 2014 Oct 46 (10): 1063-71. Coe Bradley P, Witherspoon Kali, Rosenfeld Jill A, van Bon Bregje W M, Vulto-van Silfhout Anneke T, Bosco Paolo, Friend Kathryn L, Baker Carl, Buono Serafino, Vissers Lisenka E L M, Schuurs-Hoeijmakers Janneke H, Hoischen Alex, Pfundt Rolph, Krumm Nik, Carvill Gemma L, Li Deana, Amaral David, Brown Natasha, Lockhart Paul J, Scheffer Ingrid E, Alberti Antonino, Shaw Marie, Pettinato Rosa, Tervo Raymond, de Leeuw Nicole, Reijnders Margot R F, Torchia Beth S, Peeters Hilde, O'Roak Brian J, Fichera Marco, Hehir-Kwa Jayne Y, Shendure Jay, Mefford Heather C, Haan Eric, Gécz Jozef, de Vries Bert B A, Romano Corrado, Eichler Evan |
| Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1, and TET2 mutations. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 May 28 (5): 706-14. Ohgami Robert S, Ma Lisa, Merker Jason D, Gotlib Jason R, Schrijver Iris, Zehnder James L, Arber Daniel |
| Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood cancer journal 2014 4 e177. Chen T-C, Hou H-A, Chou W-C, Tang J-L, Kuo Y-Y, Chen C-Y, Tseng M-H, Huang C-F, Lai Y-J, Chiang Y-C, Lee F-Y, Liu M-C, Liu C-W, Liu C-Y, Yao M, Huang S-Y, Ko B-S, Hsu S-C, Wu S-J, Tsay W, Chen Y-C, Tien H |
| Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis. Spine 2015 Jul 40 (14): 1086-91. Xu Leilei, Huang Shushu, Qin Xiaodong, Mao Saihu, Qiao Jun, Qian Bang-Ping, Qiu Yong, Zhu Zezha |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
Nature genetics 2015 Apr 47 (4): 373-80. Michailidou Kyriaki, Beesley Jonathan, Lindstrom Sara, Canisius Sander, Dennis Joe, Lush Michael J, Maranian Mel J, Bolla Manjeet K, Wang Qin, Shah Mitul, Perkins Barbara J, Czene Kamila, Eriksson Mikael, Darabi Hatef, Brand Judith S, Bojesen Stig E, Nordestgaard Børge G, Flyger Henrik, Nielsen Sune F, Rahman Nazneen, Turnbull Clare, , Fletcher Olivia, Peto Julian, Gibson Lorna, dos-Santos-Silva Isabel, Chang-Claude Jenny, Flesch-Janys Dieter, Rudolph Anja, Eilber Ursula, Behrens Sabine, Nevanlinna Heli, Muranen Taru A, Aittomäki Kristiina, Blomqvist Carl, Khan Sofia, Aaltonen Kirsimari, Ahsan Habibul, Kibriya Muhammad G, Whittemore Alice S, John Esther M, Malone Kathleen E, Gammon Marilie D, Santella Regina M, Ursin Giske, Makalic Enes, Schmidt Daniel F, Casey Graham, Hunter David J, Gapstur Susan M, Gaudet Mia M, Diver W Ryan, Haiman Christopher A, Schumacher Fredrick, Henderson Brian E, Le Marchand Loic, Berg Christine D, Chanock Stephen J, Figueroa Jonine, Hoover Robert N, Lambrechts Diether, Neven Patrick, Wildiers Hans, van Limbergen Erik, Schmidt Marjanka K, Broeks Annegien, Verhoef Senno, Cornelissen Sten, Couch Fergus J, Olson Janet E, Hallberg Emily, Vachon Celine, Waisfisz Quinten, Meijers-Heijboer Hanne, Adank Muriel A, van der Luijt Rob B, Li Jingmei, Liu Jianjun, Humphreys Keith, Kang Daehee, Choi Ji-Yeob, Park Sue K, Yoo Keun-Young, Matsuo Keitaro, Ito Hidemi, Iwata Hiroji, Tajima Kazuo, Guénel Pascal, Truong Thérèse, Mulot Claire, Sanchez Marie, Burwinkel Barbara, Marme Frederik, Surowy Harald, Sohn Christof, Wu Anna H, Tseng Chiu-chen, Van Den Berg David, Stram Daniel O, González-Neira Anna, Benitez Javier, Zamora M Pilar, Perez Jose Ignacio Arias, Shu Xiao-Ou, Lu Wei, Gao Yu-Tang, Cai Hui, Cox Angela, Cross Simon S, Reed Malcolm W R, Andrulis Irene L, Knight Julia A, Glendon Gord, Mulligan Anna Marie, Sawyer Elinor J, Tomlinson Ian, Kerin Michael J, Miller Nicola, , , Lindblom Annika, Margolin Sara, Teo Soo Hwang, Yip Cheng Har, Taib Nur Aishah Mohd, Tan Gie-Hooi, Hooning Maartje J, Hollestelle Antoinette, Martens John W M, Collée J Margriet, Blot William, Signorello Lisa B, Cai Qiuyin, Hopper John L, Southey Melissa C, Tsimiklis Helen, Apicella Carmel, Shen Chen-Yang, Hsiung Chia-Ni, Wu Pei-Ei, Hou Ming-Feng, Kristensen Vessela N, Nord Silje, Alnaes Grethe I Grenaker, , Giles Graham G, Milne Roger L, McLean Catriona, Canzian Federico, Trichopoulos Dimitrios, Peeters Petra, Lund Eiliv, Sund Malin, Khaw Kay-Tee, Gunter Marc J, Palli Domenico, Mortensen Lotte Maxild, Dossus Laure, Huerta Jose-Maria, Meindl Alfons, Schmutzler Rita K, Sutter Christian, Yang Rongxi, Muir Kenneth, Lophatananon Artitaya, Stewart-Brown Sarah, Siriwanarangsan Pornthep, Hartman Mikael, Miao Hui, Chia Kee Seng, Chan Ching Wan, Fasching Peter A, Hein Alexander, Beckmann Matthias W, Haeberle Lothar, Brenner Hermann, Dieffenbach Aida Karina, Arndt Volker, Stegmaier Christa, Ashworth Alan, Orr Nick, Schoemaker Minouk J, Swerdlow Anthony J, Brinton Louise, Garcia-Closas Montserrat, Zheng Wei, Halverson Sandra L, Shrubsole Martha, Long Jirong, Goldberg Mark S, Labrèche France, Dumont Martine, Winqvist Robert, Pylkäs Katri, Jukkola-Vuorinen Arja, Grip Mervi, Brauch Hiltrud, Hamann Ute, Brüning Thomas, , Radice Paolo, Peterlongo Paolo, Manoukian Siranoush, Bernard Loris, Bogdanova Natalia V, Dörk Thilo, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Hartikainen Jaana M, Devilee Peter, Tollenaar Robert A E M, Seynaeve Caroline, Van Asperen Christi J, Jakubowska Anna, Lubinski Jan, Jaworska Katarzyna, Huzarski Tomasz, Sangrajrang Suleeporn, Gaborieau Valerie, Brennan Paul, McKay James, Slager Susan, Toland Amanda E, Ambrosone Christine B, Yannoukakos Drakoulis, Kabisch Maria, Torres Diana, Neuhausen Susan L, Anton-Culver Hoda, Luccarini Craig, Baynes Caroline, Ahmed Shahana, Healey Catherine S, Tessier Daniel C, Vincent Daniel, Bacot Francois, Pita Guillermo, Alonso M Rosario, Álvarez Nuria, Herrero Daniel, Simard Jacques, Pharoah Paul P D P, Kraft Peter, Dunning Alison M, Chenevix-Trench Georgia, Hall Per, Easton Douglas |
| Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia. Blood 2016 Jul . Elena Chiara, Gallì Anna, Such Esperanza, Meggendorfer Manja, Germing Ulrich, Rizzo Ettore, Cervera Jose, Molteni Elisabetta, Fasan Annette, Schuler Esther, Ambaglio Ilaria, Lopez-Pavia Maria, Zibellini Silvia, Kuendgen Andrea, Travaglino Erica, Sancho-Tello Reyes, Catricalà Silvia, Vicente Ana I, Haferlach Torsten, Haferlach Claudia, Sanz Guillermo F, Malcovati Luca, Cazzola Mar |
| Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 May . Wang Sa A, Tam Wayne, Tsai Albert G, Arber Daniel A, Hasserjian Robert P, Geyer Julia T, George Tracy I, Czuchlewski David R, Foucar Kathryn, Rogers Heesun J, Hsi Eric D, Bryan Rea B, Bagg Adam, Dal Cin Paola, Zhao Chong, Kelley Todd W, Verstovsek Srdan, Bueso-Ramos Carlos, Orazi Attil |
| Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies. Journal of cancer research and clinical oncology 2017 Sep . Winkelmann Nils, Schäfer Vivien, Rinke Jenny, Kaiser Alexander, Ernst Philipp, Scholl Sebastian, Hochhaus Andreas, Ernst Thom |
| Enrichment of B cell receptor signaling and epidermal growth factor receptor pathways in monoclonal gammopathy of undetermined significance: a genome-wide genetic interaction study.
Molecular medicine (Cambridge, Mass.) 2018 Jun 24 (1): 30. Chattopadhyay Subhayan, Thomsen Hauke, da Silva Filho Miguel Inacio, Weinhold Niels, Hoffmann Per, Nöthen Markus M, Marina Arendt, Jöckel Karl-Heinz, Schmidt Börge, Pechlivanis Sonali, Langer Christian, Goldschmidt Hartmut, Hemminki Kari, Försti As |
| Genomic alterations of plasma cell-free DNAs in small cell lung cancer and their clinical relevance. Lung cancer (Amsterdam, Netherlands) 2018 Jun 120 113-121. Du Meijun, Thompson Jonathan, Fisher Hannah, Zhang Peng, Huang Chiang-Ching, Wang Lia |
| Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. Best practice & research. Clinical haematology 2020 5 33 (2): 101171. Lasho Terra, Patnaik Mrinal |
| Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia. HemaSphere 2020 11 4 (6): e497. Fontana Diletta, Ramazzotti Daniele, Aroldi Andrea, Redaelli Sara, Magistroni Vera, Pirola Alessandra, Niro Antonio, Massimino Luca, Mastini Cristina, Brambilla Virginia, Bombelli Silvia, Bungaro Silvia, Morotti Alessandro, Rea Delphine, Stagno Fabio, Martino Bruno, Campiotti Leonardo, Caocci Giovanni, Usala Emilio, Merli Michele, Onida Francesco, Bregni Marco, Elli Elena Maria, Fumagalli Monica, Ciceri Fabio, Perego Roberto A, Pagni Fabio, Mologni Luca, Piazza Rocco, Gambacorti-Passerini Car |
| Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome. Scientific reports 2020 10 10 (1): 18622. Wang Haiqiong, Guo Yongbo, Dong Zhenkun, Li Tao, Xie Xinsheng, Wan Dingming, Jiang Zhongxing, Yu Jifeng, Guo Ro |
| Mutational landscape of chronic myelomonocytic leukemia and its potential clinical significance. International journal of hematology 2021 8 115 (1): 21-32. Han Wenmin, Zhou Feng, Wang Zheng, Hua Haiying, Qin Wei, Jia Zhuxia, Cai Xiaohui, Chen Meiyu, Liu Jie, Chao Hongying, Lu Xuzha |
| CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia. Annals of hematology 2021 Apr . Qian Yi, Chen Yan, Li Xiaomi |
| [Genetic characteristics and prognostic values of RAS mutations in patients with myelofibrosis]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2021 1 41 (12): 989-995. Wu J Y, Li B, Jia Y J, Zhang P H, Xu Z F, Qin T J, Qu S Q, Pan L J, Liu J Q, Yan X, Zhang Y D, Chen J, Gong J Y, Xiao Z |
| Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 9 41 (1): 132-142. Gurnari Carmelo, Pagliuca Simona, Prata Pedro Henrique, Galimard Jacques-Emmanuel, Catto Luiz Fernando B, Larcher Lise, Sebert Marie, Allain Vincent, Patel Bhumika J, Durmaz Arda, Pinto Andre L, Inacio Mariana C B, Hernandez Lucie, Dhedin Nathalie, Caillat-Zucman Sophie, Clappier Emmanuelle, Sicre de Fontbrune Flore, Voso Maria Teresa, Visconte Valeria, Peffault de Latour Régis, Soulier Jean, Calado Rodrigo T, Socié Gérard, Maciejewski Jaroslaw |
| U2AF1 pathogenic variants in myeloid neoplasms and precursor states: distribution of co-mutations and prognostic heterogeneity. Blood cancer journal 2023 9 13 (1): 149. Talha Badar, Yenny A Moreno Vanegas, Ahmad Nanaa, James M Foran, Aref Al-Kali, Abhishek Mangaonkar, Hemant Murthy, Hassan B Alkhateeb, David Viswanatha, Rong He, Mithun Shah, Cecilia Arana Yi, Mark R Litzow, Naseema Gangat, Ayalew Tefferi, Mrinal M Patna |
| Genome-wide association study identifies the first germline genetic variant associated with Erdheim Chester disease. Arthritis & rheumatology (Hoboken, N.J.) 2023 8 . Javier Martínez-López, Ana Márquez, Francesco Pegoraro, Lourdes Ortiz-Fernández, Marialbert Acosta-Herrera, Martin Kerick, Elena Gelain, Eli L Diamond, Benjamin H Durham, Omar Abdel-Wahab, Ronald S Go, Matthew J Koster, Lorenzo Dagna, Corrado Campochiaro, Matthew Collin, Paul Milne, Juvianee I Estrada-Veras, Kevin O'Brien, Matthias Papo, Fleur Cohen-Aubar, Zahir Amoura, Julien Haroche, Javier Martín, Augusto Vagl |
| Haploidentical donor hematopoietic cell transplantation for myelodysplastic/myeloproliferative overlap neoplasms: results from a North American collaboration. Haematologica 2023 7 . Tania Jain, Hua-Ling Tsai, Hany Elmariah, Pankit Vachhani, Theodoros Karantanos, Sarah A Wall, Lukasz P Gondek, Asad Bashey, Alla Keyzner, Roni Tamari, Michael R Grunwald, Sameem Abedin, Kalyan Vg Nadiminti, Madiha Iqbal, Aaron T Gerds, Auro Viswabandya, Shannon R McCurdy, Monzr M Al Malki, Ravi Varadhan, Haris Ali, Vikas Gupta, Richard J Jones, Salman Otouke |
| The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms. British journal of haematology 2023 5 . Mark Gurney, Ismahene Chekkaf, Anmol Baranwal, Rami Basmaci, Bahga Katamesh, Patricia Greipp, James M Foran, Talha Badar, Abhishek A Mangaonkar, Kebede H Begna, Naseema Gangat, Mrinal M Patnaik, Mark R Litzow, Mithun V Shah, David S Viswanatha, Rong He, Hassan B Alkhateeb, Aref Al-Ka |
| Haploidentical Donor Blood or Marrow Transplantation for Myelodysplastic/Myeloproliferative Overlap Neoplasms: Results from a North American Collaboration. Research square 2023 3 . Jain Tania, Tsai Hua-Ling, Elmariah Hany, Vachhani Pankit, Karantanos Theodoros, Wall Sarah, Gondek Lukasz, Bashey Asad, Keyzner Alla, Tamari Roni, Grunwald Michael, Abedin Sameem, Nadiminti Kalyan, Iqbal Madiha, Gerds Aaron, Viswabandya Auro, McCurdy Shannon, Malki Monzr Al, Varadhan Ravi, Ali Haris, Gupta Vikas, Jones Richard John, Otoukesh Salm |
| Atypical CML: diagnosis and treatment. Hematology. American Society of Hematology. Education Program 2023 12 2023 (1): 476-482. Massimo Brecc |
| Construction of a risk stratification model integrating ctDNA to predict response and survival in neoadjuvant-treated breast cancer. BMC medicine 2023 12 21 (1): 493. Zhaoyun Liu, Bo Yu, Mu Su, Chenxi Yuan, Cuicui Liu, Xinzhao Wang, Xiang Song, Chao Li, Fukai Wang, Jianli Ma, Meng Wu, Dawei Chen, Jinming Yu, Zhiyong |
| Comprehensive genomic profiling reveals molecular subsets of ASXL1-mutated myeloid neoplasms. Leukemia & lymphoma 2023 11 1-10. Steven M Johnson, James Haberberger, Jonathan Galeotti, Lori Ramkissoon, Catherine C Coombs, Daniel R Richardson, Matthew C Foster, Daniel Duncan, Nathan D Montgomery, Naomi L Ferguson, Joshua F Zeidn |
| Molecular Landscape and Validation of New Genomic Classification in 2668 Adult AML Patients: Real Life Data from the PETHEMA Registry. Cancers 2023 1 15 (2): . Sargas Claudia, Ayala Rosa, Larráyoz María José, Chillón María Carmen, Carrillo-Cruz Estrella, Bilbao-Sieyro Cristina, Prados de la Torre Esther, Martínez-Cuadrón David, Rodríguez-Veiga Rebeca, Boluda Blanca, Gil Cristina, Bernal Teresa, Bergua Juan Miguel, Algarra Lorenzo, Tormo Mar, Martínez-Sánchez Pilar, Soria Elena, Serrano Josefina, Alonso-Domínguez Juan Manuel, García-Boyero Raimundo, Amigo María Luz, Herrera-Puente Pilar, Sayas María José, Lavilla-Rubira Esperanza, Martínez-López Joaquín, Calasanz María José, García-Sanz Ramón, Pérez-Simón José Antonio, Gómez-Casares María Teresa, Sánchez-García Joaquín, Barragán Eva, Montesinos Pau, On Behalf Of Pethema Grou |
| A comparative analysis of the clinical and genetic profiles of blast phase BCR::ABL1-negative myeloproliferative neoplasm and acute myeloid leukemia, myelodysplasia-related. International journal of laboratory hematology 2024 4 . Dong Chen, Julia Geyer, Adam Bagg, Robert Hasserjian, Olga K Weinbe |
| The impact of telomere length on prostate cancer aggressiveness, genomic instability and health disparities. Scientific reports 2024 4 14 (1): 7706. Ruotian Huang, M S Riana Bornman, Phillip D Stricker, Ilma Simoni Brum, Shingai B A Mutambirwa, Weerachai Jaratlerdsiri, Vanessa M Hay |
| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population. American journal of medical genetics. Part A 2024 10 e63914. Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Rohit Naik, Dhanya Lakshmi Narayanan, Shalini S Nayak, Vivekananda Bhat, Suvasini Sharma, Y Ramesh Bhat, B L Yatheesha, Rajesh Kulkarni, Siddaramappa J Patil, Sheela Nampoothiri, Shahyan Siddiqui, Katta Mohan Girisha, Stephanie Bielas, Anju Shuk |
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