Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 183 Records) |
Query Trace: Splenomegaly[original query] |
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TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece. Medicina (Kaunas, Lithuania) 2021 8 57 (8): . Kakkas Ioannis, Tsinti Gerasimina, Kalala Fani, Farmaki Evangelia, Kourakli Alexandra, Kapousouzi Androniki, Dimou Maria, Kalaitzidou Vassiliki, Sevdali Eirini, Peristeri Athanasia-Marina, Tsiouma Georgia, Patiou Peristera, Papadimitriou Eleni, Vassilakopoulos Theodoros P, Panayiotidis Panayiotis, Kioumi Anna, Symeonidis Argiris, Speletas Matthai |
MPN-500 The Characteristics of Patients With Unprovoked Venous Thrombotic Events With JAK2 GGCC (46/1) Haplotype Treated in Tertiary Care Center in Saudi Arabia. Clinical lymphoma, myeloma & leukemia 2022 9 22 Suppl 2 S340-S341. King Shatha Alana |
STAT3 mutations in "gray-zone" cases of T-cell large granular lymphocytic leukemia associated with autoimmune rheumatic diseases. Frontiers in medicine 2022 9 9 1000265. Gorodetskiy Vadim, Sidorova Yulia, Biderman Bella, Kupryshina Natalia, Ryzhikova Natalya, Sudarikov Andr |
The protective effect of the spleen in sickle cell patients. A comparative study between patients with asplenia/hyposplenism and hypersplenism. Frontiers in physiology 2022 9 13 796837. Peretz Sari, Livshits Leonid, Pretorius Etheresia, Makhro Asya, Bogdanova Anna, Gassmann Max, Koren Ariel, Levin Cari |
GDF-15: A Potential Biomarker and Therapeutic Target in Systemic Lupus Erythematosus. Frontiers in immunology 2022 8 13 926373. Xu Wang-Dong, Huang Qi, Yang Chan, Li Rong, Huang An-Fa |
Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression. Molecular genetics and metabolism reports 2022 7 32 100895. Ridova Nevenka, Trajkova Sanja, Chonevska Biljana, Stojanoski Zlate, Ivanovski Martin, Popova-Labachevska Marija, Stojanovska-Jakimovska Simona, Filipche Venko, Sofijanova Aspazija, Panovska-Stavridis Iri |
Clinical features and next-generation sequencing landscape of essential thrombocythemia, prefibrotic primary myelofibrosis, and overt fibrotic primary myelofibrosis: a Chinese monocentric retrospective study. Journal of cancer research and clinical oncology 2022 6 . Zhang Lan, Ye Xingnong, Luo Shuna, Xu Xiaofei, Wang Shengjie, Jin Keyi, Zheng Yan, Zhu Xiaoqiong, Chen Dan, Jin Jie, Huang Ji |
Analysis of the Clinical Significance and Safety of Interferon in the Treatment of Chronic Myeloproliferative Tumors. Journal of oncology 2022 5 2022 6551868. Yin Fenglei, Yin Juan, Xu Weixing, Li Shuchen, Zhang Wei, Wang Ju |
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report. Clinical case reports 2022 5 10 (5): e05846. Jilani Houweyda, Hsoumi Faten, Rejeb Imen, Elaribi Yasmina, Hizem Syrine, Sebai Molka, Rolfs Arndt, Benjemaa Lam |
Clinical characteristics and risk factors associated with lymphoma in patients with systemic lupus erythematosus: a nationwide cohort study. Rheumatology (Oxford, England) 2022 4 62 (1): 217-224. Martín-López María, Galindo Maria, Pego-Reigosa José María, Jiménez Norman, Olivé Marqués Alejandro, Tomero Eva, Freire Mercedes, Martínez-Barrio Julia, Boteanu Alina, Salgado-Perez Eva, Fernández-Nebro Antonio, Calvo Jaime, Menor-Almagro Raul, Rúa-Figueroa Iñi |
Study of Clinical, Hematological and Molecular Characteristics of Patients of Thalassemia and Hemoglobinopathies in Tertiary Care Hospital. The Journal of the Association of Physicians of India 2022 4 70 (4): 11-12. Kumar Avdhesh, Gupta D K, Saluja Sumi |
Coexistence of Chronic Myelomonocytic Leukemia and Ulcerative Colitis With Rapid Progression to Acute Myelomonocytic Leukemia: A Case Report. Cureus 2022 3 14 (2): e22422. Pelkey Lauren J, Graham David M, Zakem Michael H, Muza-Moons Michelle |
Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis. The journal of allergy and clinical immunology. In practice 2022 11 11 (2): 581-590.e5. Lübke Johannes, Schwaab Juliana, Christen Deborah, Elberink Hanneke Oude, Span Bart, Niedoszytko Marek, Gorska Aleksandra, Lange Magdalena, Gleixner Karoline V, Hadzijusufovic Emir, Solomianyi Oleksii, Angelova-Fischer Irena, Zanotti Roberta, Bonifacio Massimiliano, Bonadonna Patrizia, Shoumariyeh Khalid, von Bubnoff Nikolas, Müller Sabine, Perkins Cecelia, Elena Chiara, Malcovati Luca, Hagglund Hans, Mattsson Mattias, Parente Roberta, Varkonyi Judit, Fortina Anna Belloni, Caroppo Francesca, Zink Alexander, Brockow Knut, Breynaert Christine, Bullens Dominique, Yavuz Akif Selim, Doubek Michael, Sabato Vito, Schug Tanja, Niederwieser Dietger, Hartmann Karin, Triggiani Massimo, Gotlib Jason, Hermine Olivier, Arock Michel, Kluin-Nelemans Hanneke C, Panse Jens, Sperr Wolfgang R, Valent Peter, Reiter Andreas, Jawhar Moham |
Elevated plasma EDA fibronectin in primary myelofibrosis is determined by high allele burden of JAK2V617F mutation and strongly predicts splenomegaly progression. Frontiers in oncology 2022 10 12 987643. Malara Alessandro, Gruppi Cristian, Massa Margherita, Tira Maria Enrica, Rosti Vittorio, Balduini Alessandra, Barosi Giovan |
Triple-Negativity Identifies a Subgroup of Patients with Better Overall Survival in Essential Thrombocythemia. Hematology reports 2022 Aug 14 (3): 265-269. Santoro Marco, Accurso Vincenzo, Mancuso Salvatrice, Napolitano Mariasanta, Mattana Marta, Vajana Giorgia, Russello Federica, Siragusa Serg |
Exploration of risk factors of platelet transfusion refractoriness and its impact on the prognosis of hematopoietic stem cell transplantation: a retrospective study of patients with hematological diseases. Platelets 2023 7 34 (1): 2229905. Xiaofei Song, Jiaqian Qi, Xueqian Li, Meng Zhou, Jingyi He, Tiantian Chu, Yue H |
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 |
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation. The American journal of the medical sciences 2023 7 . Xiangke Xin, Na Wang, Yicheng Zha |
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene. Annals of clinical biochemistry 2023 6 45632231186076. Paula Sienes Bailo, Nuria Goñi Ros, Bárbara Menéndez Jándula, Ramiro Álvarez Alegret, Eduardo González Gómez, Ricardo González Tarancón, Silvia Izquierdo Álvar |
[Clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm accelerated/blast phase]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2023 6 44 (4): 276-283. X Yan, T J Qin, B Li, S Q Qu, L J Pan, F H Li, N N Liu, Z J Xiao, Z F |
Allelic burden of Janus kinase 2 in a 6-month course of therapy for myeloproliferative neoplasms. Molecular biology reports 2023 5 . It?r ?irino?lu Demiriz, Mehmet Hanifi Kazanci, Esra Menfaatli, Davoud Jafari-Gharabaghlou, Nosratollah Zargha |
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 |
Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in JAK2V617F, CALR, and MPL. Technology in cancer research & treatment 2023 2 22 15330338231154092. Wang Yan, Ran Fei, Lin Jin, Zhang Jing, Ma D |
The Impact of JAK2 V617F, CALR, and MPL Mutations as Molecular Diagnostic Markers of Myeloproliferative Neoplasms in Kurdish Patients. A Single-center Experience. Cellular and molecular biology (Noisy-le-Grand, France) 2023 2 68 (8): 202-209. Basim Najm Maysam, Jalal Sana Dlawar, Getta Hisham Ar |
Clinical characteristics and symptom burden of Thai myeloproliferative neoplasm patients. Hematology (Amsterdam, Netherlands) 2023 11 28 (1): 2280731. Naritsara Cherdchoo, Chantana Polprasert, Ponlapat Rojnuckarin, Sunisa Kongkiatkam |
Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms. International journal of molecular sciences 2023 11 24 (22): . Maria Teresa Bochicchio, Giorgia Micucci, Silvia Asioli, Martina Ghetti, Giorgia Simonetti, Alessandro Lucche |
Molecular landscape of the JAK2 gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil. Biomedical reports 2023 11 19 (6): 98. Dania G Torres, Emanuela V Barbosa Alves, Miliane Araújo de Sousa, Wanessa H Laranjeira, Jhemerson Paes, Erycka Alves, Deborah Canté, Allyson G Costa, Adriana Malheiro, Rosângela Abreu, Leny Nascimento, Nelson A Fraiji, George A V Silva, Lucivana P de Souza Mourão, Andréa M Tarra |
Association of TERT (rs2736098 and rs2736100) genetic variants with elevated risk of hepatocellular carcinoma: a retrospective case-control study. Scientific reports 2023 10 13 (1): 18382. Walaa R Seif Eldin, Entsar A Saad, Ahmed Monier, Rami M Elshaz |
Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A?>?T) in Indian Sickle Cell Disease Patients. Journal of laboratory physicians 2023 10 15 (4): 583-589. Hareram Pandey, Kanwaljeet Singh, Ravi Ranjan, Jasmita Dass, Seema Tyagi, Tulika Seth, Renu Saxena, Manoranjan Mahapat |
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report. Frontiers in oncology 2023 10 13 1266996. Petruta Gurban, Cristina Mambet, Anca Botezatu, Laura G Necula, Ana I Neagu, Lilia Matei, Ioana M Pitica, Saviana Nedeianu, Mihaela Chivu-Economescu, Coralia Bleotu, Marius Ataman, Gabriela Mocanu, Carmen Saguna, Anca G Pavel, Danae Stambouli, Elise Sepulchre, Gabriela Anton, Carmen C Diaconu, Stefan N Constantines |
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