Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: PCCA[original query] |
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[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Feb 32 (1): 26-30. Chen Zhanling, Wen Pengqiang, Wang Guobing, Hu Yuhui, Liu Xiaohong, Chen Li, Chen Shuli, Wan Lisheng, Cui Dong, Shang Yue, Li Chengro |
Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers. Neoplasma 2016 63 (5): 681-6. Jo Y S, Oh H R, Kim M S, Yoo N J, Lee S |
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. Genetic testing and molecular biomarkers 2016 May . Gupta Deepti, Bijarnia-Mahay Sunita, Kohli Sudha, Saxena Renu, Puri Ratna Dua, Shigematsu Yosuke, Yamaguchi Seiji, Sakamoto Osamu, Gupta Neerja, Kabra Madhulika, Thakur Seema, Deb Roumi, Verma Ishwar Chand |
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. Journal of child neurology 2018 7 33 (11): 713-717. AlGhamdi Afnan, Alrifai Muhammad Talal, Al Hammad Abdullah I, Al Mutairi Fuad, Alswaid Abdulrahman, Eyaid Wafaa, Alfadhel Maj |
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Molecular genetics and metabolism reports 2019 2 18 22-29. Al-Hamed Mohamed H, Imtiaz Faiqa, Al-Hassnan Zuhair, Al-Owain Mohammed, Al-Zaidan Hamad, Alamoudi Mohamed S, Faqeih Eissa, Alfadhel Majid, Al-Asmari Ali, Saleh M M, Almutairi Fuad, Moghrabi Nabil, AlSayed Moeenalde |
Nerve Fibers in the Tumor Microenvironment as a Novel Biomarker for Oncological Outcome in Patients Undergoing Surgery for Perihilar Cholangiocarcinoma. Liver cancer 2021 7 10 (3): 260-274. Bednarsch Jan, Kather Jakob, Tan Xiuxiang, Sivakumar Shivan, Cacchi Claudio, Wiltberger Georg, Czigany Zoltan, Ulmer Florian, Neumann Ulf Peter, Heij Lara Rosali |
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. Medicine 2021 3 100 (10): e24161. Chen Yao, Lin Xuehua, Lin Qingying, Zeng Yinglin, Qiu Xiaolong, Liu Guanghua, Zhu Wenb |
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 694-697. Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdo |
The genomic landscape of cholangiocarcinoma reveals the disruption of post-transcriptional modifiers. Nature communications 2022 Jun 13 (1): 3061. Zhang Yaodong, Ma Zijian, Li Changxian, Wang Cheng, Jiang Wangjie, Chang Jiang, Han Sheng, Lu Zefa, Shao Zicheng, Wang Yirui, Wang Hongwei, Jiao Chenyu, Wang Dong, Wu Xiaofeng, Shen Hongbing, Wang Xuehao, Hu Zhibin, Li Xiangche |
Genetic Variant of CXCR1 (rs2234671) Associates with Clinical Outcome in Perihilar Cholangiocarcinoma. Liver cancer 2022 5 11 (2): 162-173. Lurje Isabella, Czigany Zoltan, Bednarsch Jan, Gaisa Nadine Therese, Dahl Edgar, Knüchel Ruth, Miller Hannah, Ulmer Tom Florian, Strnad Pavel, Trautwein Christian, Tacke Frank, Neumann Ulf Peter, Lurje Geo |
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital. Orphanet journal of rare diseases 2022 3 17 (1): 135. Liu Yi, Chen Zhehui, Dong Hui, Ding Yuan, He Ruxuan, Kang Lulu, Li Dongxiao, Shen Ming, Jin Ying, Zhang Yao, Song Jinqing, Tian Yaping, Cao Yongtong, Liang Desheng, Yang Yanli |
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations. Saudi journal of biological sciences 2022 10 29 (12): 103461. Al-Asmari Ali, Peer-Zada Abdul Ali, AlDehaimi Abdulwahed, Polychronakos Constantin, Chentoufi Aziz |
Specific genomic alterations and prognostic analysis of perihilar cholangiocarcinoma and distal cholangiocarcinoma. Journal of gastrointestinal oncology 2021 Dec 12 (6): 2631-2642. Zheng Yuanwen, Qin Yejun, Gong Wei, Li Hongguang, Li Bin, Wang Yu, Chao Baoting, Zhao Shulei, Liu Luguang, Yao Shuzhan, Shi Junping, Shi Xiaoliang, Wang Kai, Xu Shife |
Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways. Scientific reports 2023 4 13 (1): 6681. Leonard M Quinn, Sam Haldenby, Philip Antzcak, Anna Fowler, Katie Bullock, John Kenny, Timothy Gilbert, Timothy Andrews, Rafael Diaz-Nieto, Stephen Fenwick, Robert Jones, Eithne Costello-Goldring, Graeme Poston, William Greenhalf, Daniel Palmer, Hassan Malik, Chris Goldri |
Tumour stage and overall survival in patients with intrahepatic cholangiocarcinoma and primary sclerosing cholangitis - a retrospective cohort study. Zeitschrift fur Gastroenterologie 2024 1 62 (1): 37-42. Christoph Schramm, Ayaz Sapuk, Dieter Hoyer, Sonia Radünz, Hartmut Schmi |
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- Page last updated:Apr 22, 2024
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