Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 247 Records) |
Query Trace: PTPN11[original query] |
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Genetic changes in refractory relapsed acute myeloid leukemia with NPM1 mutation: A case report. World journal of clinical cases 2022 12 10 (35): 13058-13063. Wang Shuang-Li |
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches. Gynecologic oncology 2023 9 177 86-94. Dimitrios Nasioudis, Marta Llaurado Fernandez, Nelson Wong, Daniel J Powell, Gordon B Mills, Shannon Westin, Amanda N Fader, Mark S Carey, Fiona Simpki |
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 |
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
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 |
Acute megakaryoblastic leukaemia shows high frequency of chromosome 1q aberrations and dismal outcome. British journal of haematology 2023 7 . Friederike Pastore, Hanna Gittinger, Susanne Raab, Sebastian Tschuri, Bianka Ksienzyk, Nikola P Konstandin, Stephanie Schneider, Maja Rothenberg-Thurley, Hans-Peter Horny, Martin Werner, Maria C Sauerland, Susanne Amler, Dennis Görlich, Wolfgang E Berdel, Bernhard Wörmann, Jan Braess, Wolfgang Hiddemann, Johanna Tischer, Tobias Herold, Klaus H Metzeler, Karsten Spiekerma |
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC). International journal of molecular sciences 2023 7 24 (13): . Cathy E Richards, Yasir Y Elamin, Aoife Carr, Kathy Gately, Shereen Rafee, Mattia Cremona, Emer Hanrahan, Robert Smyth, Daniel Ryan, Ross K Morgan, Susan Kennedy, Lance Hudson, Joanna Fay, Kenneth O'Byrne, Bryan T Hennessy, Sinead Toom |
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing. Cureus 2023 6 15 (6): e39818. Mohiuddin M Taher, Najwa A Bantan, Mustafa H Alwalily, Muhammad Saeed, Nuha M Taher, Meriem Bouzidi, Raid A Jastania, Kamal B Balkhoyo |
Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations. Circulation. Genomic and precision medicine 2023 6 e004206. Ingegerd Östman-Smi |
[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 |
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA neurology 2023 5 . Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E Zeynep Erson-Omay, Stephanie M Robert, Emre Kiziltug, Eyiyemisi C Damisah, Carol Nelson-Williams, Guangya Zhu, Wenna Kong, August Yue Huang, Edward Stronge, H Westley Phillips, Brian H Chhouk, Sara Bizzotto, Ming Hui Chen, Thiuni N Adikari, Zimeng Ye, Tom Witkowski, Dulcie Lai, Nadine Lee, Julie Lokan, Ingrid E Scheffer, Samuel F Berkovic, Shozeb Haider, Michael S Hildebrand, Edward Yang, Murat Gunel, Richard P Lifton, R Mark Richardson, Ingmar Blümcke, Sanda Alexandrescu, Anita Huttner, Erin L Heinzen, Jidong Zhu, Annapurna Poduri, Nihal DeLanerolle, Dennis D Spencer, Eunjung Alice Lee, Christopher A Walsh, Kristopher T Kah |
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 |
Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group. Leukemia & lymphoma 2023 3 1-9. Ramia de Cap Maximiliano, Wu Leo P, Hirt Christian, Pihan German A, Patel Sanjay S, Tam Wayne, Bueso-Ramos Carlos E, Kanagal-Shamanna Rashmi, Raess Philipp W, Siddon Alexa, Narayanan Damodaran, Morgan Elizabeth A, Pinkus Geraldine S, Mason Emily F, Hsi Eric D, Rogers Heesun J, Toth Laura, Foucar Kathryn, Hurwitz Stephanie N, Bagg Adam, Rets Anton, George Tracy I, Orazi Attilio, Arber Daniel A, Hasserjian Robert P, Weinberg Olga K, |
Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia. BMC pediatrics 2023 2 23 (1): 62. Shen Diying, Liu Lixia, Xu Xiaojun, Song Hua, Zhang Jingying, Xu Weiqun, Zhao Fenying, Liang Juan, Liao Chan, Wang Yan, Xia Tian, Wang Chengcheng, Lou Feng, Cao Shanbo, Qin Jiayue, Tang Yongm |
Whole-exome sequencing reveals genetic variants in low-risk and high-risk neuroblastoma. Gene 2023 2 860 147233. Altun Zekiye, Yuan Hongling, Baran Burçin, Akta? Safiye, Sönmez Esra Esmeray, Küçük Can, Olgun N |
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine 2023 2 e2160. Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu |
Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era. The Journal of pediatrics 2023 2 . Kim Susan Taejung, Lee Sang Yun, Kim Gi Beom, Bae Eun Jung, Ko Jung Min, Song Mi Kyou |
Follicular Thyroid Adenoma and Follicular Thyroid Carcinoma-A Common or Distinct Background? Loss of Heterozygosity in Comprehensive Microarray Study. Cancers 2023 2 15 (3): . Borowczyk Martyna, Dobosz Paula, Szczepanek-Parulska Ewelina, Budny Bart?omiej, D?bicki Szymon, Filipowicz Dorota, Wrotkowska El?bieta, Oszywa Michalina, Verburg Frederik A, Janicka-Jedy?ska Ma?gorzata, Ziemnicka Katarzyna, Rucha?a Mar |
[Clinical Study on the Relationship between Gene Mutation Profile and Prognosis in Pediatric Acute Lymphocyte Leukemia]. Zhongguo shi yan xue ye xue za zhi 2023 2 31 (1): 17-24. Chen Yan, Qi Shan-Shan, Ding Li-Li, DU Yu, Song Na, Wang Zhuo, Yang Li, Sun Ming, Xiong H |
Single-nucleotide polymorphisms link gout with health-related lifestyle factors in Korean cohorts. PloS one 2023 12 18 (12): e0295038. Hye Kyung Jeon, Hae Young Y |
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. British journal of haematology 2023 11 . Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flot |
The clinical features and prognostic implications of PTPN11 mutation in adult patients with acute myeloid leukemia in China. Cancer medicine 2023 11 . Jinjun Yang, Lei Zhao, Yu Wu, Ting Niu, Yuping Gong, Xinchuan Chen, Xiaoou Huang, Jiazhuo Liu, Yang Dai, Hongbing |
Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations. Open medicine (Warsaw, Poland) 2023 11 18 (1): 20230830. Li Sheng, Yajiao Liu, Yingying Zhu, Jingfen Zhou, Haiying H |
Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation. Pharmacogenomics and personalized medicine 2023 11 16 1011-1026. Rui Huang, Yi-Ting Zhang, Yu Lin, Ru-Li Pang, Zhi Yang, Wei-Hua Zh |
Genomic Mutation Profiles of Patients with Acute Myeloid Leukemia in Korea: a Single-Center Experience. Clinical laboratory 2023 11 69 (11): . Eunhee Han, Soorack Ryu, Dohyang Kim, Eun-Ha Koh, Jung-Hyun Byun, Dong-Hyun L |
[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 |
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
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- Page last updated:Apr 22, 2024
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