Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 70 Records) |
| Query Trace: Disease and PTPN11[original query] |
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| High Throughput Molecular Characterization of Normal Karyotype Acute Myeloid Leukemia in the Context of the Prospective Trial 02/06 of the Northern Italy Leukemia Group (NILG). Cancers 2020 8 12 (8): . Salmoiraghi Silvia, Cavagna Roberta, Zanghì Pamela, Pavoni Chiara, Michelato Anna, Buklijas Ksenija, Elidi Lara, Intermesoli Tamara, Lussana Federico, Oldani Elena, Caprioli Chiara, Stefanoni Paola, Gianfaldoni Giacomo, Audisio Ernesta, Terruzzi Elisabetta, De Paoli Lorella, Borlenghi Erika, Cavattoni Irene, Mattei Daniele, Scattolin Annamaria, Tajana Monica, Ciceri Fabio, Todisco Elisabetta, Campiotti Leonardo, Corradini Paolo, Fracchiolla Nicola, Bassan Renato, Rambaldi Alessandro, Spinelli Oriet |
| Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. Best practice & research. Clinical haematology 2020 5 33 (2): 101171. Lasho Terra, Patnaik Mrinal |
| De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific reports 2020 Apr 10 (1): 7046. Ji Weizhen, Ferdman Dina, Copel Joshua, Scheinost Dustin, Shabanova Veronika, Brueckner Martina, Khokha Mustafa K, Ment Laura |
| RAS Pathway Mutation Patterns in Patients With Juvenile Myelomonocytic Leukemia: A Developing Country Single-center Experience. Clinical lymphoma, myeloma & leukemia 2020 Feb . Hamdy Nayera, Bokhary Hossam, Elsayed Amr, Hozayn Walaa, Soliman Sonya, Salem Sherine, Alsheshtawi Khaled, Abdalla Amr, Hafez Hanafy, Hammad Mahmo |
| Mutations predictive of hyperactive Ras signaling correlate with inferior survival across high-risk pediatric acute leukemia. Translational pediatrics 2020 3 9 (1): 43-50. Ney Gina M, Anderson Bailey, Bender Jonathan, Kumar-Sinha Chandan, Wu Yi-Mi, Vats Pankaj, Cieslik Marcin, Robinson Dan R, Li Qing, Chinnaiyan Arul M, Mody Raj |
| Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Clinical genetics 2021 8 100 (5): 563-572. D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Danie |
| What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? Analysis of the Mutational Landscape and Prognosis of the TARGET-AML Cohort. Genes 2021 May 12 (6): . Herlin Morten Krogh, Yones Sara A, Kjeldsen Eigil, Holmfeldt Linda, Hasle Henr |
| Pediatric Acute Promyelocytic Leukemia: Epidemiology, Molecular Features, and Importance of GST-Theta 1 in Chemotherapy Response and Outcome. Frontiers in oncology 2021 11 642744. Andrade Francianne G, Feliciano Suellen V M, Sardou-Cezar Ingrid, Brisson Gisele D, Dos Santos-Bueno Filipe V, Vianna Danielle T, Marques Luísa V C, Terra-Granado Eugênia, Zalcberg Ilana, Santos Marceli de O, Costa Juliana T, Noronha Elda P, Thuler Luiz C S, Wiemels Joseph L, Pombo-de-Oliveira Maria S, |
| Real-life experience with CPX-351 and impact on the outcome of high-risk AML patients: a multicentric French cohort. Blood advances 2021 Jan 5 (1): 176-184. Chiche Edmond, Rahmé Ramy, Bertoli Sarah, Dumas Pierre-Yves, Micol Jean-Baptiste, Hicheri Yosr, Pasquier Florence, Peterlin Pierre, Chevallier Patrice, Thomas Xavier, Loschi Michael, Genthon Alexis, Legrand Ollivier, Mohty Mohamad, Raffoux Emmanuel, Auberger Patrick, Caulier Alexis, Joris Magalie, Bonmati Caroline, Roth-Guepin Gabrielle, Lejeune Caroline, Pigneux Arnaud, Vey Norbert, Recher Christian, Ades Lionel, Cluzeau Thom |
Genome-Wide Association Study of Peripheral Artery Disease.
Circulation. Genomic and precision medicine 2021 Oct CIRCGEN119002862. van Zuydam Natalie R, Stiby Alexander, Abdalla Moustafa, Austin Erin, Dahlström Emma H, McLachlan Stela, Vlachopoulou Efthymia, Ahlqvist Emma, Di Liao Chen, Sandholm Niina, Forsblom Carol, Mahajan Anubha, Robertson Neil R, Rayner N William, Lindholm Eero, Sinisalo Juha, Perola Markus, Kallio Milla, Weiss Emily, Price Jackie, Paterson Andrew, Klein Barbara, Salomaa Veikko, Palmer Colin N A, Groop Per-Henrik, Groop Leif, McCarthy Mark I, de Andrade Mariza, Morris Andrew P, Hopewell Jemma C, Colhoun Helen M, Kullo Iftikhar J, |
| Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
| Genomic and Clinical Analysis of Children with Acute Lymphoblastic Leukemia. Computational and mathematical methods in medicine 2022 2022 7904293. Liu Yu, Nuriding Hailiqiguli, Zhao Li, Wang Xuemei, Yue Yingbin, Song Yue, Yan M |
| Noonan syndrome associated with hypoplastic left heart syndrome. Cardiology in the young 2022 8 1-3. Lawrence Kendall M, Burstein Danielle S, Ahrens-Nicklas Rebecca, Gaynor J William, Nuri Muhammad |
| PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation. Leukemia research 2022 5 118 106859. Liu Jie, Qin Wei, Wang Biao, Wang Zheng, Hua Haiying, Zhou Feng, Jia Zhuxia, Wu Pin, Chao Hongying, Lu Xuzha |
| TP53 copy number and protein expression inform mutation status across risk categories in acute myeloid leukemia. Blood 2022 4 140 (1): 58-72. Tashakori Mehrnoosh, Kadia Tapan, Loghavi Sanam, Daver Naval, Kanagal-Shamanna Rashmi, Pierce Sherry, Sui Dawen, Wei Peng, Khodakarami Farnoosh, Tang Zhenya, Routbort Mark, Bivins Carol A, Jabbour Elias J, Medeiros L Jeffrey, Bhalla Kapil, Kantarjian Hagop M, Ravandi Farhad, Khoury Joseph |
| PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease. Disease markers 2022 4 2022 8290779. Xu Zi-Qing, Chen Wei-Cheng, Li Yu-Jie, Suo Mei-Jiao, Tian Gui-Xiang, Sheng Wei, Huang Guo-Yi |
| Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. BMC genomic data 2022 3 23 (1): 23. Vanlallawma Andrew, Lallawmzuali Doris, Pautu Jeremy L, Scaria Vinod, Sivasubbu Sridhar, Kumar Nachimuthu Senth |
| [The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 3 57 (3): 317-323. Gao Y, Li Z C, Ma X L, Gao Y Q, Xiao Y, Dai X, Ma |
| Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia. HemaSphere 2022 10 6 (10): e785. Pilheden Mattias, Ahlgren Louise, Hyrenius-Wittsten Axel, Gonzalez-Pena Veronica, Sturesson Helena, Hansen Marquart Hanne Vibeke, Lausen Birgitte, Castor Anders, Pronk Cornelis Jan, Barbany Gisela, Pokrovskaja Tamm Katja, Fogelstrand Linda, Lohi Olli, Norén-Nyström Ulrika, Asklin Johanna, Chen Yilun, Song Guangchun, Walsh Michael, Ma Jing, Zhang Jinghui, Saal Lao H, Gawad Charles, Hagström-Andersson Anna |
| Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
| SHP2 is involved in the occurrence, development and prognosis of cancer. Oncology letters 2023 8 26 (3): 393. Shu Li, Jialing Qu, Xiaotong Wang, Qin Zou, Chunli |
| Gene mutation profiling and clinical significances in patients with renal cell carcinoma. Clinics (Sao Paulo, Brazil) 2023 7 78 100259. Yongquan Wang, Peng He, Xiaozhou Zhou, Cong Wang, Jian Fu, Dawei Zhang, Deyang Liao, Zhansong Zhou, Chunman Wu, Wei Go |
| The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
| [Genomics of next generation sequencing in pediatric B-acute lymphoblastic leukemia and its impact on minimal residual disease]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 6 61 (6): 527-532. Y Y Gao, Y J Jia, B Q Qi, X Y Zhang, Y M Chen, Y Zou, Y Guo, W Y Yang, L Zhang, S C Wang, R R Zhang, T F Liu, Z Song, X F Zhu, X J Ch |
| Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
| [Genetic characteristics and survival analysis of 27 cases of juvenile myelomonocytic leukemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 1 61 (1): 56-60. Li J J, Hu T, Li J H, Zhang Z X, Feng S Q, Shi X D, Zhang L, Cao J, Song Z L, Hu M Z, Zhong D X, Yue M, Fan W, Tang R H, Zou B H, Liu |
| 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 |
| CD33 and SHP-1/PTPN6 Interaction in Alzheimer's Disease. Genes 2024 9 15 (9): . Lien Beckers, Mamunur Rashid, Annie J Lee, Zena K Chatila, Kirstin A Tamucci, Ryan C Talcoff, Jennifer L Hall, David A Bennett, Badri N Vardarajan, Elizabeth M Bradsh |
| Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients. Journal of hematology & oncology 2024 8 17 (1): 70. Adriane Halik, Marlon Tilgner, Patricia Silva, Natalia Estrada, Robert Altwasser, Ekaterina Jahn, Michael Heuser, Hsin-An Hou, Marta Pratcorona, Robert K Hills, Klaus H Metzeler, Laurene Fenwarth, Anna Dolnik, Christine Terre, Klara Kopp, Olga Blau, Martin Szyska, Friederike Christen, Jan Krönke, Loïc Vasseur, Bob Löwenberg, Jordi Esteve, Peter J M Valk, Matthieu Duchmann, Wen-Chien Chou, David C Linch, Hartmut Döhner, Rosemary E Gale, Konstanze Döhner, Lars Bullinger, Kenichi Yoshida, Frederik Da |
| Impact of myelodysplasia-related and additional gene mutations in intensively treated patients with NPM1-mutated AML. HemaSphere 2025 1 9 (1): e70060. Sibylle Cocciardi, Maral Saadati, Nina Weiß, Daniela Späth, Silke Kapp-Schwoerer, Isabelle Schneider, Annika Meid, Verena I Gaidzik, Sabrina Skambraks, Walter Fiedler, Michael W M Kühn, Ulrich Germing, Karin T Mayer, Michael Lübbert, Elli Papaemmanuil, Felicitas Thol, Michael Heuser, Arnold Ganser, Lars Bullinger, Axel Benner, Hartmut Döhner, Konstanze Döhn |
- Page last reviewed:Feb 1, 2024
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