Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 140 Records) |
| Query Trace: Disease and ATP7B[original query] |
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| Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease. Indian journal of pediatrics 2022 Sep . Nagral Aabha, Mallakmir Snehal, Garg Nikita, Tiwari Kritika, Masih Suzena, Nagral Nishtha, Unavane Ojas, Jhaveri Ajay, Phadke Shubha, ArunKumar GaneshPrasad, Aggarwal Rake |
| Pearls & Oy-sters: Challenges and Controversies in Wilson Disease. Neurology 2022 8 99 (6): 251-255. Ruiz-Lopez Marta, Moreno Estébanez Ana, Tijero Beatriz, Fernandez Tamara, Rebollo-Perez Alba, Gabilondo Iñigo, Lopez-Osle Nuria, Ceberio-Hualde Leticia, Zarranz Juan Jose, Gomez-Esteban Juan Carl |
| Cuproptosis-Related Gene - SLC31A1, FDX1 and ATP7B - Polymorphisms are Associated with Risk of Lung Cancer. Pharmacogenomics and personalized medicine 2022 15 733-742. Yun Yuhui, Wang Yun, Yang Ende, Jing X |
| Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam. Molecular genetics and metabolism reports 2022 7 31 100861. Huong Nguyen Thi Mai, Hoa Nguyen Pham Anh, Ngoc Ngo Diem, Mai Nguyen Thi Phuong, Yen Pham Hai, Anh Hoàng Th? Vân, Hoa Giang, Dien Tran Mi |
| Metabolic and Genetic Evaluation in Children with Nephrolithiasis. Indian journal of pediatrics 2022 Jul . Mandal Anita, Khandelwal Priyanka, Geetha Thenral S, Murugan Sakthivel, Meena Jitendra, Jana Manisha, Sinha Aditi, Kumar Rajeev, Seth Amlesh, Hari Pankaj, Bagga Arvi |
| Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa. Frontiers in medicine 2022 5 9 877752. Ye Zifan, Jia Xiuhua, Liu Xin, Zhang Qi, Wang Kaijun, Chen M |
| Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing. Klinicheskaia laboratornaia diagnostika 2022 Apr 67 (4): 250-256. Sivtsev A A, Zhalsanova I Zh, Postrigan A E, Fonova E A, Vasilyeva O Yu, Zarubin A A, Minaicheva L I, Agafonova A A, Petrova V V, Ravzhaeva E G, Salyukova O A, Skryabin N |
| Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China. Journal of clinical laboratory analysis 2022 4 36 (6): e24459. Huang Chenjun, Fang Meng, Xiao Xiao, Gao Zhiyuan, Wang Ying, Gao Chunfa |
| [Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 357-361. Liu Pan, Che Fengyu, Shu Chang, Li Yarong, Liu Xiaogu |
| Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study. Frontiers in neurology 2022 12 13 1058642. Yang Yue, Hao Wenjie, Wei Taohua, Tang LuLu, Qian Nannan, Yang Yulong, Xi Hu, Zhang Shijie, Yang Wenmi |
| Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease. The Journal of molecular diagnostics : JMD 2022 11 25 (1): 57-67. Xu Wan-Qing, Wang Rou-Min, Dong Yi, Wu Zhi-Yi |
| Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China. Journal of clinical laboratory analysis 2022 Oct e24735. Jia Siyu, Li Xiaojin, Zhang Wei, Zhang Bei, Wu Zhen, Duan Weijia, Ou Xiaojuan, Zhou Donghu, Huang Ji |
| ATP7B Gene Variant Profile ?dentified by NGS in Wilson's Disease. Fetal and pediatric pathology 2023 9 1-10. Orhan Gorukmez, Taner Özgür, Ozlem Gorukmez, Ali Top |
| A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China. Pediatric neurology 2023 6 145 135-147. Ziru Xue, Hongyu Chen, Lan Yu, Peifang Jia |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather. Frontiers in genetics 2023 4 14 1142968. Wang Yanjun, Fang Jiahui, Li Bin, Li Chongyang, Liu Shan, He Juan, Tao Lvyan, Li Cuifen, Yang Ya, Li Li, Xiao Shufa |
| Association of genetic polymorphisms in detoxifying systems and urinary metal(loid) levels with excess body weight among Spanish children: A proof-of-concept study. The Science of the total environment 2023 2 873 162333. Ramírez Viviana, Salcedo-Bellido Inmaculada, Rodrigo Lourdes, Hernández Fernando Gil, Olmedo Pablo, Martínez-González Luis Javier, Álvarez-Cubero María Jesús, Rivas A |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| An original cuproptosis-related genes signature effectively influences the prognosis and immune status of head and neck squamous cell carcinoma. Frontiers in genetics 2023 1 13 1084206. Zheng Xiwang, Zhang Chunming, Zheng Defei, Guo Qingbo, Maierhaba Mijiti, Xue Lingbin, Zeng Xianhai, Wu Yongyan, Gao W |
| Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2024 9 . Pablo Alonso-Castellano, Antonio Tugores, Zoe Mariño, Antonio Olveira, Marina Berenguer, M Pilar Huarte, Jose R Fernández-Ramos, María Lázaro-Ríos, María L González-Diéguez, José M Moreno-Planas, Manuel Hernández-Guerra, Paula Fernández-Álvarez, Manuel Delgado-Blanco, José M Pinazo-Bandera, Marta Romero, Javier Ampuero, Helena Masnou-Ridaura, Alba Cachero, Víctor Vargas, Judith Gómez-Camarero, María J Morillas-Ariño, Esther Molina-Pérez, Anna Miralpeix, Luis García-Villarreal, |
| Associations between cuprotosis-related genes and the spectrum of metabolic dysfunction-associated fatty liver disease: An exploratory study. Diabetes, obesity & metabolism 2024 9 . Hai-Yang Yuan, Wen-Yue Liu, Gong Feng, Sui-Dan Chen, Xin-Zhe Jin, Li-Li Chen, Zi-Jun Song, Ke Li, Christopher D Byrne, Giovanni Targher, Na Tian, Gang Li, Xin-Lei Zhang, Jacob George, Meng Zhou, Fudi Wang, Ming-Hua Zhe |
| The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. International journal of molecular sciences 2024 9 25 (17): . Grigoriy A Yanus, Evgeny N Suspitsin, Evgeny N Imyanit |
| Phenotypic and genetic characterization of children with Wilson Disease from Northeast China. BMC pediatrics 2024 9 24 (1): 576. Tianhe Zhang, Wenliang Song, Zhiqin M |
| [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]. Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2024 7 32 (6): 558-562. J K Xia, H F Ning, X Luo, Y Zeng, Y B Chen, X D Ko |
| [Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration]. Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2024 7 32 (6): 551-557. Q Q Xiao, Y H Xu, X Xu, Y W Shi, H X Cao, X Q Liu, J G F |
| A Case of Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis. Internal medicine (Tokyo, Japan) 2024 7 . Masami Minemura, Rei Fukuda, Kazuto Tajiri, Nozomu Muraishi, Aiko Murayama, Yuka Hayashi, Terumi Takahara, Akira Noguchi, Ichiro Yasu |
| Phenotype and molecular characterization of Wilson's disease in Morocco. Clinics and research in hepatology and gastroenterology 2024 4 102335. Nadia Abbassi, Aicha Bourrahouat, Eduardo Couchonnal Bedoya, Cécile Pagan, Meriem El Qabli, Sana Maidoumi, Abdelouahed Belmalih, Olivier Guillaud, Najib Kissani, Abdelhak Abkari, Imane Chahid, Mohammed Abdoh Rafai, Nezha Mouane, Yamna Kriouile, Saadia Aidi, Moustpha Hida, Mounia Lakhdar Idrissi, Mohammed Faouzi Belahsen, Mohammed El Abkari, Maria Rkain, Zahi Ismaili, Azeddine Sedki, Muriel Bost, Nisrine Aboussair, Alain Lacha |
| Novel cuprotosis-related gene signature: a prognostic indicator and regulator of the glioma immune microenvironment. Translational cancer research 2024 12 13 (11): 6282-6297. Dongming Gao, Lin Zhou, Youyuan Bao, Wenyin Shi, Lei Li, Liang G |
| Use of Estonian Biobank data and participant recall to improve Wilson's disease management. European journal of human genetics : EJHG 2024 12 . Miriam Nurm, Anu Reigo, Tarmo Annilo, Toomas Toomsoo, Margit Nõukas, Tiit Nikopensius, Vasili Pankratov, Tuuli Reisberg, Georgi Hudjashov, , Toomas Haller, Neeme Tõniss |
| Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases. World journal of clinical pediatrics 2024 12 13 (4): 98462. Jin-Ying You, Ling-Yun Xiong, Min-Fang Wu, Jun-Song Fan, Qi-Hua Fu, Ming-Hua Q |
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