Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 118 Records) |
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| Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
| Molecular characteristics of varicocele: integration of whole-exome and transcriptome sequencing. Fertility and sterility 2020 9 115 (2): 363-372. Yang Bo, Yang Yuan, Liu Yunqiang, Li Hong, Ren Shangqing, Peng Zhufeng, Fang Kun, Yang Luchen, Dong Qia |
| Cytogenetic and molecular landscape and its potential clinical significance in Hispanic CMML patients from Puerto Rico. Oncotarget 2020 12 11 (47): 4411-4420. Jiang Zeju, Sun Xinlai, Wu Zhao, Alhatem Albert, Zheng Ruifang, Liu Dongfang, Wang Yaqun, Kumar Dibyendu, Xia Changqing, You Bei, Wang He, Liu Chen, Jiang Jie-G |
| Novel CUBN Mutation in a Young Child With Megaloblastic Anemia. Journal of pediatric hematology/oncology 2020 10 43 (4): e546-e549. Falcon Corey, Hamm Austin J, Li Geling, Lebensburger Jeffrey, Howard Thomas H, Xavier Ana |
| Rs4911154 of circ-ITCH aggravated tumor malignancy of thyroid nodules via the circ-ITCH/miR-22-3p/CBL axis. Scientific reports 2021 9 11 (1): 18491. Guo Yiqing, Zheng Hua, Yin Jie, Wang Huami |
| Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease. Leukemia 2021 8 36 (2): 507-515. Dawoud Ahmed A Z, Gilbert Rodney D, Tapper William J, Cross Nicholas C |
| The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents. Acta haematologica 2021 Jul 1-11. Park Hee Sue, Son Bo Ra, Shin Kyeong Seob, Byeon Seonggyu, Kim Hee Kyung, Yang Yaewon, Jeong Yusook, Han Hye Sook, Lee Ki Hyeong, Kwon Jihy |
| Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO precision oncology 2021 5 . Kim Jung, Light Nicholas, Subasri Vallijah, Young Erin L, Wegman-Ostrosky Talia, Barkauskas Donald A, Hall David, Lupo Philip J, Patidar Rajesh, Maese Luke D, Jones Kristine, Wang Mingyi, Tavtigian Sean V, Wu Dongjing, Shlien Adam, Telfer Frank, Goldenberg Anna, Skapek Stephen X, Wei Jun S, Wen Xinyu, Catchpoole Daniel, Hawkins Douglas S, Schiffman Joshua D, Khan Javed, Malkin David, Stewart Douglas |
| 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 |
| A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations. Human molecular genetics 2021 Apr . Zhu Meng, Fan Jingyi, Zhang Chang, Xu Jing, Yin Rong, Zhang Erbao, Wang Yuzhuo, Ji Mengmeng, Sun Qi, Dai Juncheng, Jin Guangfu, Chen Liang, Xu Lin, Hu Zhibin, Ma Hongxia, Shen Hongbi |
| Mutations in chronic myelomonocytic leukemia and their prognostic relevance. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2021 4 23 (9): 1731-1742. Jian J, Qiao Y, Li Y, Guo Y, Ma H, Liu |
| Clinical implications of copy number alteration detection using panel-based next-generation sequencing data in myelodysplastic syndrome. Leukemia research 2021 Apr 103 106540. Kim Yoo-Jin, Jung Seung-Hyun, Hur Eun-Hye, Choi Eun-Ji, Lee Kyoo-Hyung, Park Hyeon-Chun, Kim Hye Joung, Kwon Yong-Rim, Park Silvia, Lee Sug Hyung, Chung Yeun-Jun, Lee Je-Hw |
| MET exon 14 skipping mutation positive non-small cell lung cancer: Response to systemic therapy. Lung cancer (Amsterdam, Netherlands) 2021 Apr 154 142-145. Wong Selina K, Alex Deepu, Bosdet Ian, Hughesman Curtis, Karsan Aly, Yip Stephen, Ho Cher |
| Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study. Blood advances 2021 Mar 5 (5): 1442-1451. Luque Paz Damien, Riou Jérémie, Verger Emmanuelle, Cassinat Bruno, Chauveau Aurélie, Ianotto Jean-Christophe, Dupriez Brigitte, Boyer Françoise, Renard Maxime, Mansier Olivier, Murati Anne, Rey Jérôme, Etienne Gabriel, Mansat-De Mas Véronique, Tavitian Suzanne, Nibourel Olivier, Girault Stéphane, Le Bris Yannick, Girodon François, Ranta Dana, Chomel Jean-Claude, Cony-Makhoul Pascale, Sujobert Pierre, Robles Margot, Ben Abdelali Raouf, Kosmider Olivier, Cottin Laurane, Roy Lydia, Sloma Ivan, Vacheret Fabienne, Wemeau Mathieu, Mossuz Pascal, Slama Borhane, Cussac Vincent, Denis Guillaume, Walter-Petrich Anouk, Burroni Barbara, Jézéquel Nathalie, Giraudier Stéphane, Lippert Eric, Socié Gérard, Kiladjian Jean-Jacques, Ugo Valér |
| Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia. Haematologica 2021 Mar . Kaburagi Taeko, Yamato Genki, Shiba Norio, Yoshida Kenichi, Hara Yusuke, Tabuchi Ken, Shiraishi Yuichi, Ohki Kentaro, Sotomatsu Manabu, Arakawa Hirokazu, Matsuo Hidemasa, Shimada Akira, Taki Tomohiko, Kiyokawa Nobutaka, Tomizawa Daisuke, Horibe Keizo, Miyano Satoru, Taga Takashi, Adachi Souichi, Ogawa Seishi, Hayashi Yasuhi |
| Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2021 11 27 10760296211059813. Zhao Shasha, Ma Jingyao, Zhu Xiaojing, Zhang Jialu, Wu Runh |
| Integrated Genomic Profiling and Drug Screening of Patient-Derived Cultures Identifies Individualized Copy Number-Dependent Susceptibilities Involving PI3K Pathway and 17q Genes in Neuroblastoma. Frontiers in oncology 2021 11 11 709525. Wong Rachel L Y, Wong Megan R E, Kuick Chik Hong, Saffari Seyed Ehsan, Wong Meng Kang, Tan Sheng Hui, Merchant Khurshid, Chang Kenneth T E, Thangavelu Matan, Periyasamy Giridharan, Chen Zhi Xiong, Iyer Prasad, Tan Enrica E K, Soh Shui Yen, Iyer N Gopalakrishna, Fan Qiao, Loh Amos H |
| Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis. International journal of molecular sciences 2021 1 22 (1): . Nedoszytko Boguslaw, Arock Michel, Lyons Jonathan J, Bachelot Guillaume, Schwartz Lawrence B, Reiter Andreas, Jawhar Mohamad, Schwaab Juliana, Lange Magdalena, Greiner Georg, Hoermann Gregor, Niedoszytko Marek, Metcalfe Dean D, Valent Pet |
| Clonal cytopenia of undetermined significance (CCUS) with dysplasia is enriched for MDS-type molecular findings compared to CCUS without dysplasia. European journal of haematology 2021 1 106 (4): 500-507. Jajosky Audrey N, Sadri Navid, Meyerson Howard J, Oduro Kwadwo A, Kelkar Ashwin, Fitzgerald Brynn, Tomlinson Benjamin, Moore Erika M, Beck Rose |
| Effect of mutation allele frequency on the risk stratification of myelodysplastic syndrome patients. American journal of hematology 2022 9 97 (12): 1589-1598. Lee Wan-Hsuan, Lin Chien-Chin, Tsai Cheng-Hong, Tseng Mei-Hsuan, Kuo Yuan-Yeh, Liu Ming-Chih, Tang Jih-Luh, Sun Hsun-I, Chuang Yi-Kuang, Chou Wen-Chien, Hou Hsin-An, Tien Hwei-Fa |
| The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing. Leukemia & lymphoma 2022 Jun 1-9. Xu Jing, Hao Zhuanghui, Chen Xian, Hong Minglin, Muyey Daniel Muteb, Chen Xiuhua, Wang Hongw |
| Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis. Cancers 2022 5 14 (10): . González-López Oscar, Muñoz-González Javier I, Orfao Alberto, Álvarez-Twose Iván, García-Montero Andrés |
| Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation. Annals of laboratory medicine 2022 4 42 (5): 590-596. Lee Jikyo, Kim Sung Min, Kim Soonok, Yun Jiwon, Jeong Dajeong, Lee Young Eun, Roh Eun-Youn, Lee Dong So |
| High Frequency of ASXL1 and IDH Mutations in Young Acute Myeloid Leukemia Egyptian Patients. Asian Pacific journal of cancer prevention : APJCP 2022 3 23 (3): 977-984. El Nahass Yasser H, Nader Heba A, Sabet Salwa, Nooh Hend A, Bassiony Heba, Kamel Mahmoud, Samra Mohamed A, Mahmoud Hossam K, El Metnawy Wafaa H, El Refaey Fatma |
| Distinct genetic landscapes and their clinical implications in younger and older patients with myelodysplastic syndromes. Hematological oncology 2022 11 . Lee Wan-Hsuan, Lin Chien-Chin, Wang Yu-Hung, Yao Chi-Yuan, Kuo Yuan-Yeh, Tseng Mei-Hsuan, Peng Yen-Ling, Hsu Cheng-An, Sun Hsun-I, Chuang Yi-Kuang, Hsu Chia-Lang, Tien Feng-Ming, Tsai Cheng-Hong, Chou Wen-Chien, Hou Hsin-An, Tien Hwei-Fa |
| [Clinical Significance of RAS Gene Mutations in Patients with Acute Myeloid Leukemia]. Zhongguo shi yan xue ye xue za zhi 2022 Oct 30 (5): 1391-1396. Wei Ji-Feng, Qiu Hui-Ying, Chen Ze, Miao Lei, Wang Ying, Zhao Li-Dong, Cai Zhi-M |
| Transcobalamin receptor gene polymorphisms and mutation in an elderly population. Clinical nutrition ESPEN 2023 5 55 425-427. Andrew McCaddon, Daniel F Carr, Hudson Peter, Stuart J Moat, Edward V Quadr |
| Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue. Acta neuropathologica communications 2023 3 11 (1): 40. Tauber Christina V, Schwarz Sigrid C, Rösler Thomas W, Arzberger Thomas, Gentleman Steve, Windl Otto, Krumbiegel Mandy, Reis André, Ruf Viktoria C, Herms Jochen, Höglinger Günter |
| 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 |
| Association of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms with serum folate, cobalanin and homocysteine concentrations in Greek adults. Scandinavian journal of clinical and laboratory investigation 2023 1 1-5. Mazokopakis Elias E, Papadomanolaki Maria G, Papadakis John |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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