Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 60 Records) |
Query Trace: Syndrome and JAK2[original query] |
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Role of calreticulin mutations in the aetiological diagnosis of splanchnic vein thrombosis. Journal of hepatology 2015 Jan 62 (1): 72-4. Turon Fanny, Cervantes Francisco, Colomer Dolors, Baiges Anna, Hernández-Gea Virginia, Garcia-Pagán Juan Carl |
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature communications 2014 5 4654. Nikolaev Sergey I, Garieri Marco, Santoni Federico, Falconnet Emilie, Ribaux Pascale, Guipponi Michel, Murray Aoife, Groet Jürgen, Giarin Emanuela, Basso Giuseppe, Nizetic Dean, Antonarakis Stylianos |
Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. Journal of gastroenterology and hepatology 2015 Aug . El Sebay Hatem M, Safan Manal A, Daoud Ashraf A, Tayel Safaa I, Nouh Alaa, El Shafie Shym |
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2015 Jan 26 (1): 42-8. Karaköse Süleyman, Oruç Nevin, Zengin Melia, Akarca Ulus Salih, Ersöz Gal |
Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China. Gastroenterology research and practice 2015 2015 807865. Zhang Peijin, Zhang Yanyan, Zhang Jing, Wang Hui, Ma He, Wang Wei, Gao Xiuyin, Xu Hao, Lu Zhaoj |
Thrombophilia Profile in Budd-Chiari Syndrome and Splanchnic Vein Thrombosis: A Study from Western India. The Journal of the Association of Physicians of India 2015 Sep 63 (9): 32-5. Sawant Prabha, Vashishtha Chitranshu, Nasa Mukesh, Parikh Pathik, Patel Jignesh, Agasti Anan |
Impact of genotype on leukaemic transformation in polycythaemia vera and essential thrombocythaemia. British journal of haematology 2017 09 178 (5): 764-771. Alvarez-Larrán Alberto, Senín Alicia, Fernández-Rodríguez Concepción, Pereira Arturo, Arellano-Rodrigo Eduardo, Gómez Montse, Ferrer-Marin Francisca, Martínez-López Joaquín, Camacho Laura, Colomer Dolors, Angona Anna, Navarro Blanca, Cervantes Francisco, Besses Carlos, Bellosillo Beatriz, Hernández-Boluda Juan Carl |
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. The New England journal of medicine 2017 02 376 (6): 536-547. Lindsley R Coleman, Saber Wael, Mar Brenton G, Redd Robert, Wang Tao, Haagenson Michael D, Grauman Peter V, Hu Zhen-Huan, Spellman Stephen R, Lee Stephanie J, Verneris Michael R, Hsu Katharine, Fleischhauer Katharina, Cutler Corey, Antin Joseph H, Neuberg Donna, Ebert Benjamin |
Bone marrow fibrosis in chronic myelomonocytic leukemia is associated with increased megakaryopoiesis, splenomegaly and with a shorter median time to disease progression. Oncotarget 2017 Nov 8 (61): 103274-103282. Petrova-Drus Kseniya, Chiu April, Margolskee Elizabeth, Barouk-Fox Sharon, Geyer Julia, Dogan Ahmet, Orazi Attil |
Idiopathic hypereosinophilia is clonal disorder? Clonality identified by targeted sequencing. PloS one 2017 12 (10): e0185602. Lee Jee-Soo, Seo Heewon, Im Kyongok, Park Si Nae, Kim Sung-Min, Lee Eun Kyoung, Kim Jung-Ah, Lee Joon-Hee, Kwon Sunghoon, Kim Miyoung, Koh Insong, Hwang Seungwoo, Park Heung-Woo, Kang Hye-Ryun, Park Kyoung Soo, Kim Ju Han, Lee Dong So |
Jak-2 mutation frequency in patients with thrombocytosis. Caspian journal of internal medicine 2018 9 (2): 189-193. Yokus Osman, Gedik Hab |
Chronic Myelomonocytic Leukemia With Fibrosis Is a Distinct Disease Subset With Myeloproliferative Features and Frequent JAK2 p.V617F Mutations. The American journal of surgical pathology 2018 Mar . Gur Hatice D, Loghavi Sanam, Garcia-Manero Guillermo, Routbort Mark, Kanagal-Shamanna Rashmi, Quesada Andres, Khogeer Haitham, Pierce Sherry, Medeiros L Jeffrey, Kantarjian Hagop, Khoury Joseph |
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 positive polycythemia vera: a case report. BMC cancer 2018 3 18 (1): 286. Pang Ying, Gupta Garima, Yang Chunzhang, Wang Herui, Huynh Thanh-Truc, Abdullaev Ziedulla, Pack Svetlana D, Percy Melanie J, Lappin Terence R J, Zhuang Zhengping, Pacak Kar |
Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH). Experimental hematology & oncology 2019 8 8 17. Lobry Camille, Bains Ashish, Zamechek Leah B, Ibrahim Sherif, Aifantis Iannis, Araten David |
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease. American journal of hematology 2019 4 94 (7): 757-766. Quesada Andrés E, Routbort Mark J, DiNardo Courtney D, Bueso-Ramos Carlos E, Kanagal-Shamanna Rashmi, Khoury Joseph D, Thakral Beenu, Zuo Zhuang, Yin C Cameron, Loghavi Sanam, Ok Chi Y, Wang Sa A, Tang Zhenya, Bannon Sarah A, Benton Christopher B, Garcia-Manero Guillermo, Kantarjian Hagop, Luthra Rajyalakshmi, Medeiros L Jeffrey, Patel Keyur |
Prevalence of prothrombotic factors in patients with Budd-Chiari syndrome or non-cirrhotic nonmalignant portal vein thrombosis: A hospital-based observational study. Journal of gastroenterology and hepatology 2019 11 35 (7): 1215-1222. Fan Jiahao, Wang Qiuhe, Luo Bohan, Chen Hui, Wang Zhengyu, Niu Jing, Yuan Jie, Yuan Xulong, Bai Wei, He Chuangye, Guo Wengang, Li Kai, Yin Zhanxin, Fan Daiming, Han Guoho |
Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders. Journal of clinical medicine 2020 Aug 9 (9): . Fortea José Ignacio, Carrera Inés García, Puente Ángela, Cuadrado Antonio, Huelin Patricia, Tato Carmen Álvarez, Fernández Paloma Álvarez, Montes María Del Rocío Pérez, Céspedes Javier Nuñez, López Ana Batlle, Sanchez Francisco José González, Hoyos Marcos López, Crespo Javier, Fábrega Emil |
Polycythemia Vera Presenting With Normal Hemoglobin and Hematocrit: A Rare Variant. Cureus 2020 7 12 (6): e8404. Erdinc Burak, Ramachandran Preethi, Boris Avezbakiy |
Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort.
![]() PloS one 2021 9 16 (9): e0247287. Ashvetiya Tamara, Fan Sherry X, Chen Yi-Ju, Williams Charles H, O'Connell Jeffery R, Perry James A, Hong Charles |
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome. Frontiers in oncology 2020 10 610525. Fang Ying, Guo Juan, Wu Dong, Wu Ling-Yun, Song Lu-Xi, Zhang Zheng, Zhao You-Shan, Chang Chun-Ka |
Comprehensive Thrombophilia Evaluation in Cerebral Venous Thrombosis: A Single Center Cross Sectional Study. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2022 6 38 (3): 522-528. Kumar Rajiv, Vinny Pulikottil Wilson, Nair Vishnu G, Jakku Raje |
Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations. JACC. CardioOncology 2022 Mar 4 (1): 38-49. Calvillo-Argüelles Oscar, Schoffel Alice, Capo-Chichi José-Mario, Abdel-Qadir Husam, Schuh Andre, Carrillo-Estrada Montserrat, Liu Shiying, Gupta Vikas, Schimmer Aaron D, Yee Karen, Shlush Liran I, Natarajan Pradeep, Thavendiranathan Paaladine |
Rivaroxaban for the treatment of noncirrhotic splanchnic vein thrombosis: an interventional prospective cohort study. Blood advances 2022 4 6 (12): 3569-3578. Ageno Walter, Beyer Westendorf Jan, Contino Laura, Bucherini Eugenio, Sartori Maria Teresa, Senzolo Marco, Grandone Elvira, Santoro Rita, Carrier Marc, Delluc Aurélien, De Stefano Valerio, Pomero Fulvio, Donadini Marco Paolo, Tosetto Alberto, Becattini Cecilia, Martinelli Ida, Nardo Barbara, Bertoletti Laurent, Di Nisio Marcello, Lazo-Langner Alejandro, Schenone Alessandro, Riva Nicolet |
Lab tests for MPN. International review of cell and molecular biology 2022 2 366 187-220. Moncada Alice, Pancrazzi Alessand |
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
![]() HGG advances 2022 10 4 (1): 100147. Pillalamarri Vamsee, Shi Wen, Say Conrad, Yang Stephanie, Lane John, Guallar Eliseo, Pankratz Nathan, Arking Dan |
Familial Clonal Hematopoiesis in a Long Telomere Syndrome. The New England journal of medicine 2023 5 . Emily A DeBoy, Michael G Tassia, Kristen E Schratz, Stephanie M Yan, Zoe L Cosner, Emily J McNally, Dustin L Gable, Zhimin Xiang, David B Lombard, Emmanuel S Antonarakis, Christopher D Gocke, Rajiv C McCoy, Mary Armani |
Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity. EJHaem 2023 5 4 (2): 463-469. Piers Blombery, Vahid Pazhakh, Adriana S Albuquerque, Jesmeen Maimaris, Lingge Tu, Brenda Briones Miranda, Florence Evans, Ella R Thompson, Ben Carpenter, Ian Proctor, Julie A Curtin, Jonathan Lambert, Siobhan O Burns, Graham J Liesch |
Liquid Biopsies for Circulating Tumor DNA Detection May Reveal Occult Hematologic Malignancies in Patients With Solid Tumors. JCO precision oncology 2023 3 7 e2200583. Aldea Mihaela, Tagliamento Marco, Bayle Arnaud, Vasseur Damien, Vergé Véronique, Marinello Arianna, Danlos François-Xavier, Blanc-Durand Felix, Bernard Elsa, Cerbone Luigi, Mosele Maria Fernanda, Renneville Aline, Hadoux Julien, Loriot Yohann, Sakkal Madona, Vozy Aurore, Sarkozy Clementine, Smolenschi Cristina, Nicotra Claudio, Martin-Romano Patricia, Boccon-Gibod Clementine, Habza Wafikaamira, Lazarovici Julien, Ponce Santiago, Hollebecque Antoine, Marzac Christophe, Lacroix Ludovic, Barlesi Fabrice, André Fabrice, Besse Benjamin, Rouleau Etienne, Italiano Antoine, Micol Jean-Baptis |
Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study. International journal of molecular sciences 2024 9 25 (18): . Fei Fei, Amar Jariwala, Sheeja Pullarkat, Eric Loo, Yan Liu, Parastou Tizro, Haris Ali, Salman Otoukesh, Idoroenyi Amanam, Andrew Artz, Feras Ally, Milhan Telatar, Ryotaro Nakamura, Guido Marcucci, Michelle Afkha |
The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital. Thrombosis journal 2024 6 22 (1): 50. Shaoying Wang, Ming Yao, Xinzhuang Yang, Yicheng Zhu, Bin Pe |
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