Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and PDGFRB[original query] |
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| Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation. Anticancer research 0 28 (5A): 2745-51. Trojani Alessandra, Ripamonti Carla Barbara, Penco Silvana, Beghini Alessandro, Nadali Gianpaolo, Di Bona Eros, Viola Assunta, Castagnola Carlo, Colapietro Patrizia, Grillo Giovanni, Pezzetti Laura, Ravelli Erica, Patrosso Maria Cristina, Marocchi Alessandro, Cuneo Antonio, Ferrara Felicetto, Lazzarino Mario, Pizzolo Giovanni, Cairoli Roberto, Morra Enri |
| Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta neurochirurgica 2010 Dec 152 (12): 2153-60. Roder Constantin, Peters Vera, Kasuya Hidetoshi, Nishizawa Tsutomu, Takehara Yayoi, Berg Daniela, Schulte Claudia, Khan Nadia, Tatagiba Marcos, Krischek Bor |
| Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: a case-only study. Cancer 2012 Feb 118 (3): 804-11. Zhai Rihong, Zhao Yang, Liu Geoffrey, Ter-Minassian Monica, Wu I-Chen, Wang Zhaoxi, Su Li, Asomaning Kofi, Chen Feng, Kulke Matthew H, Lin Xihong, Heist Rebecca S, Wain John C, Christiani David |
| Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human molecular genetics 2012 Feb 21 (4): 934-46. Spain Sarah L, Carvajal-Carmona Luis G, Howarth Kimberley M, Jones Angela M, Su Zhan, Cazier Jean-Baptiste, Williams Jennet, Aaltonen Lauri A, Pharoah Paul, Kerr David J, Cheadle Jeremy, Li Li, Casey Graham, Vodicka Pavel, Sieber Oliver, Lipton Lara, Gibbs Peter, Martin Nicholas G, Montgomery Grant W, Young Joanne, Baird Paul N, Morreau Hans, van Wezel Tom, Ruiz-Ponte Clara, Fernandez-Rozadilla Ceres, Carracedo Angel, Castells Antoni, Castellvi-Bel Sergi, Dunlop Malcolm, Houlston Richard S, Tomlinson Ian P |
| Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects. Gene 2013 Sep 526 (2): 437-42. Wang Xiaomeng, Zhang Zhizhong, Liu Wenhua, Xiong Yunyun, Sun Wen, Huang Xianjun, Jiang Yongjun, Ni Guanzhong, Sun Wenshan, Zhou Lulu, Wu Li, Zhu Wusheng, Li Hua, Liu Xinfeng, Xu Gel |
| Molecular profiling of soft tissue sarcomas using next-generation sequencing: a pilot study toward precision therapeutics. Human pathology 2014 Aug 45 (8): 1563-71. Jour George, Scarborough John D, Jones Robin L, Loggers Elizabeth, Pollack Seth M, Pritchard Colin C, Hoch Benjamin |
| VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma. Thyroid : official journal of the American Thyroid Association 2014 Aug 24 (8): 1251-5. Mancikova Veronika, Inglada-Pérez Lucía, Curras-Freixes Maria, de Cubas Aguirre A, Gómez Álvaro, Letón Rocío, Kersten Iris, Leandro-García Luis Javier, Comino-Méndez Iñaki, Apellaniz-Ruiz María, Sánchez Lara, Cascón Alberto, Sastre-Marcos Julia, García Juan F, Rodríguez-Antona Cristina, Robledo Merced |
| Distinct clinicopathological features of NAB2-STAT6 fusion gene variants in solitary fibrous tumor with emphasis on the acquisition of highly malignant potential. Human pathology 2015 Mar 46 (3): 347-56. Akaike Keisuke, Kurisaki-Arakawa Aiko, Hara Kieko, Suehara Yoshiyuki, Takagi Tatsuya, Mitani Keiko, Kaneko Kazuo, Yao Takashi, Saito Tsuyos |
| Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma. The Journal of pathology 2016 Jun . Tetzlaff Michael T, Singh Rajesh R, Seviour Elena G, Curry Jonathan L, Hudgens Courtney W, Bell Diana, Wimmer Daniel A, Ning Jing, Czerniak Bogdan A, Zhang Li, Davies Michael A, Prieto Victor G, Broaddus Russell R, Ram Prahlad, Luthra Rajyalakshmi, Esmaeli Bi |
| Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. Journal of neurosurgical sciences 2016 Oct . Raso Alessandro, Biassoni Roberto, Mascelli Samantha, Nozza Paolo, Ugolotti Elisabetta, DI Marco Eddi, DE Marco Patrizia, Merello Elisa, Cama Armando, Pavanello Marco, Capra Valer |
| Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. Journal of human genetics 2017 Mar . Wang Chong, Yao Xiang-Ping, Chen Hai-Ting, Lai Jing-Hui, Guo Xin-Xin, Su Hui-Zhen, Dong En-Lin, Zhang Qi-Jie, Wang Ning, Chen Wan-J |
| Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma. Oncotarget 2017 Dec 8 (63): 106551-106564. Garrigós Carmen, Espinosa Marta, Salinas Ana, Osman Ignacio, Medina Rafael, Taron Miguel, Molina-Pinelo Sonia, Duran Ignac |
| [Characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 3 36 (3): 249-252. Zhang Xiuwen, Zhou Min, Chao Hongying, Jiang Naike, Lu Xuzhang, Jiang Yu, Zhang |
| Identification of SLC20A2 deletions in patients with primary familial brain calcification. Clinical genetics 2019 3 96 (1): 53-60. Guo Xin-Xin, Su Hui-Zhen, Zou Xiao-Huan, Lai Lu-Lu, Lu Ying-Qian, Wang Chong, Li Yun-Lu, Hong Jing-Mei, Zhao Miao, Lin Kun-Xin, Lin Jie, Zeng Yi-Heng, Yao Xiang-Ping, Wang Ning, Chen Wan-J |
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy.
American journal of human genetics 2019 Dec 105 (6): 1076-1090. Nath Artika P, Ritchie Scott C, Grinberg Nastasiya F, Tang Howard Ho-Fung, Huang Qin Qin, Teo Shu Mei, Ahola-Olli Ari V, Würtz Peter, Havulinna Aki S, Santalahti Kristiina, Pitkänen Niina, Lehtimäki Terho, Kähönen Mika, Lyytikäinen Leo-Pekka, Raitoharju Emma, Seppälä Ilkka, Sarin Antti-Pekka, Ripatti Samuli, Palotie Aarno, Perola Markus, Viikari Jorma S, Jalkanen Sirpa, Maksimow Mikael, Salmi Marko, Wallace Chris, Raitakari Olli T, Salomaa Veikko, Abraham Gad, Kettunen Johannes, Inouye Micha |
| Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia. Frontiers in oncology 2020 8 10 1184. Lejman Monika, W?odarczyk Monika, Styka Borys, Pastorczak Agata, Zawitkowska Joanna, Taha Joanna, S?dek ?ukasz, Skonieczka Katarzyna, Braun Marcin, Haus Olga, Szczepa?ski Tomasz, M?ynarski Wojciech, Kowalczyk Jerzy |
| Integrative Analysis of Pleomorphic Dermal Sarcomas Reveals Fibroblastic Differentiation and Susceptibility to Immunotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 8 26 (21): 5638-5645. Klein Sebastian, Quaas Alexander, Noh Ka-Won, Cartolano Maria, Abedpour Nima, Mauch Cornelia, Quantius Jennifer, Reinhardt Hans Christian, Buettner Reinhard, Peifer Martin, Helbig Dor |
| Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American journal of medical genetics. Part A 2020 6 182 (7): 1576-1591. Wenger Tara L, Bly Randall A, Wu Natalie, Albert Catherine M, Park Julie, Shieh Joseph, Chenbhanich Jirat, Heike Carrie L, Adam Margaret P, Chang Irene, Sun Angela, Miller Danny E, Beck Anita E, Gupta Deepti, Boos Markus D, Zackai Elaine H, Everman David, Ganapathi Shireen, Wilson Meredith, Christodoulou John, Zarate Yuri A, Curry Cynthia, Li Dong, Guimier Anne, Amiel Jeanne, Hakonarson Hakon, Webster Richard, Bhoj Elizabeth J, Perkins Jonathan A, Dahl John P, Dobyns William |
| PHACTR1 is associated with disease progression in Chinese Moyamoya disease. PeerJ 2020 5 8 e8841. Yang Yongbo, Wang Jian, Liang Qun, Wang Yi, Chen Xinhua, Zhang Qingrong, Na Shijie, Liu Yi, Yan Ting, Hang Chunhua, Zhu Yich |
| An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.
European journal of human genetics : EJHG 2020 Oct . Ruotsalainen Sanni E, Partanen Juulia J, Cichonska Anna, Lin Jake, Benner Christian, Surakka Ida, , Reeve Mary Pat, Palta Priit, Salmi Marko, Jalkanen Sirpa, Ahola-Olli Ari, Palotie Aarno, Salomaa Veikko, Daly Mark J, Pirinen Matti, Ripatti Samuli, Koskela Juk |
| Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways. Blood advances 2021 10 6 (2): 637-651. Witte Hanno M, Künstner Axel, Hertel Nadine, Bernd Heinz-Wolfram, Bernard Veronica, Stölting Stephanie, Merz Hartmut, von Bubnoff Nikolas, Busch Hauke, Feller Alfred C, Gebauer Nikl |
| Functional analysis of HECA variants identified in congenital heart disease in the Chinese population. Journal of clinical laboratory analysis 2022 8 36 (9): e24649. Li Ting, Wu Yao, Chen Wei-Cheng, Xue Xing, Suo Mei-Jiao, Li Ping, Sheng Wei, Huang Guo-Yi |
| Association between germline variants and somatic mutations in colorectal cancer. Scientific reports 2022 Jun 12 (1): 10207. Barfield Richard, Qu Conghui, Steinfelder Robert S, Zeng Chenjie, Harrison Tabitha A, Brezina Stefanie, Buchanan Daniel D, Campbell Peter T, Casey Graham, Gallinger Steven, Giannakis Marios, Gruber Stephen B, Gsur Andrea, Hsu Li, Huyghe Jeroen R, Moreno Victor, Newcomb Polly A, Ogino Shuji, Phipps Amanda I, Slattery Martha L, Thibodeau Stephen N, Trinh Quang M, Toland Amanda E, Hudson Thomas J, Sun Wei, Zaidi Syed H, Peters Ulri |
| Genomic Diagnoses for Ectopic Intracerebral Calcifications. Neurology. Genetics 2023 8 9 (5): e200083. Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo To |
| Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: reevaluation of the defining characteristics in a registry-based cohort. Leukemia 2023 7 . Georgia Metzgeroth, Laurenz Steiner, Nicole Naumann, Johannes Lübke, Sebastian Kreil, Alice Fabarius, Claudia Haferlach, Torsten Haferlach, Wolf-Karsten Hofmann, Nicholas C P Cross, Juliana Schwaab, Andreas Reit |
| Whole-exome sequencing reveals the genomic profile and IL6ST mutations as a prognostic biomarker of paraneoplastic pemphigus associated unicentric Castleman disease. The Journal of investigative dermatology 2023 10 . Sai Wang, Rui Wang, Panpan Shang, Xuejun Zhu, Xixue Chen, Guohong Zhang, Mingyue Wa |
| Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics 2023 1 . van de Beek Irma, Glykofridis Iris E, Tanck Michael W T, Luijten Monique N H, Starink Theo M, Balk Jesper A, Johannesma Paul C, Hennekam Eric, van den Hoff Maurice J B, Gunst Quinn D, Gille Johan J P, Polstra Abeltje M, Postmus Pieter E, van Steensel Maurice A M, Postma Alex V, Wolthuis Rob M F, Menko Fred H, Houweling Arjan C, Waisfisz Quint |
| [Genetic Analysis of Cerebrovascular Diseases]. No shinkei geka. Neurological surgery 2024 9 52 (5): 1057-1081. Satoru Miyawaki, Hiroki Hongo, Seiei Torazawa, Shotaro Ogawa, Nobuhito Sai |
| Associations of genetic variation and mRNA expression of PDGF/PDGFRB pathway genes with coronary artery disease in the Chinese population. Journal of cellular and molecular medicine 2024 11 28 (22): e70193. Pengfei Wei, Hankun Xie, Junxiang Sun, Qian Zhuang, Jichao Xie, Yunjie Yin, Fangyuan Liu, Wen Li, Changying Chen, Feifan Wang, Xu Han, Liang Xu, Xianghai Zhao, Yanchun Chen, Song Yang, Chong Sh |
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