HuGE Literature Finder
Records 1-30
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In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.
Molecular biology reports 2019 Apr . Kumari Niti, Kumar Aman, Pal Amit, Thapa Babu Ram, Modi Manish, Prasad Rajend |
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Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers.
Epigenetics & chromatin 2019 02 12 (1): 10. Mordaunt Charles E, Kieffer Dorothy A, Shibata Noreene M, Czlonkowska Anna, Litwin Tomasz, Weiss Karl-Heinz, Zhu Yihui, Bowlus Christopher L, Sarkar Souvik, Cooper Stewart, Wan Yu-Jui Yvonne, Ali Mohamed R, LaSalle Janine M, Medici Valenti |
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The global prevalence of Wilson disease from next-generation sequencing data.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep . Gao Jiali, Brackley Simon, Mann Jake |
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Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Journal of Korean medical science 2018 Jun 33 (26): e177. Shim Jung Ok, Yang Hye Ran, Moon Jin Soo, Chang Ju Young, Ko Jae Sung, Park Sung Sup, Seo Jeong K |
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Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Journal of genetics 2017 Dec 96 (6): 933-939. Tuan Pham Le Anh, Nguyen Trong Tue, Nga Le Hoang Bich, Tran Dat Quoc, Ho Cam Tu, Tran Thinh Huy, Ta Van Thanh, Bui The Hung, Tran Van Kha |
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Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease.
Annals of human genetics 2017 Oct . Roy Shubhrajit, Ganguly Kausik, Pal Prosenjit, Ghosh Sampurna, Das Shyamal K, Gangopadhyay Prasanta K, Bavdekar Ashish, Ray Kunal, Sengupta Mainak, Ray Jhar |
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ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Genetic testing and molecular biomarkers 2016 Jan . Ljubi? Hana, Kalauz Mirjana, Telarovi? Sr?ana, Ferenci Peter, Ostoji? Rajko, Noli Maria Cristina, Lepori Maria Barbara, Hrsti? Irena, Vukovi? Jurica, Premuži? Marina, Radi? Davor, Grubeli? Ravi? Katja, Serti? Jadranka, Merkler Ana, Acman Bariši? Ana, Loudianos Georgios, Vuceli? Bor |
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Bone demineralisation in a large cohort of Wilson disease patients.
Journal of inherited metabolic disease 2015 Sep 38 (5): 949-56. Weiss Karl Heinz, Van de Moortele Mart, Gotthardt Daniel Nils, Pfeiffenberger Jan, Seeßle Jessica, Ullrich Elena, Gielen Evelien, Borghs Herman, Adriaens Els, Stremmel Wolfgang, Meersseman Wouter, Boonen Steven, Cassiman Dav |
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Clinical and genetic analysis of pediatric patients with Wilson disease.
The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2015 Sep 26 (5): 397-403. ?im?ek Papur Özlenen, A??k Akman Sezin, Terzio?lu Orh |
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Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Gene 2015 Sep 569 (1): 83-7. Guggilla Sreenivasa Rao, Senagari Jalandhar Reddy, Rao P N, Madireddi Sujat |
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Geographic distribution of ATP7B mutations in Wilson disease.
Annals of human biology 2015 Jul 1-8. Gomes Amanda, Dedoussis George |
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Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.
Journal of hepatology 2015 Jul 63 (1): 156-63. Stättermayer Albert Friedrich, Traussnigg Stefan, Dienes Hans-Peter, Aigner Elmar, Stauber Rudolf, Lackner Karoline, Hofer Harald, Stift Judith, Wrba Friedrich, Stadlmayr Andreas, Datz Christian, Strasser Michael, Maieron Andreas, Trauner Michael, Ferenci Pet |
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Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease.
Liver international : official journal of the International Association for the Study of the Liver 2015 Jan 35 (1): 215-22. Gromadzka Gra?yna, Kruszy?ska Monika, Wierzbicka Diana, Litwin Tomasz, Dzie?yc Karolina, Wierzchowska-Ciok Agata, Chabik Grzegorz, Cz?onkowska An |
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[Whole blood allele-specific PCR, a simple method to detect four ATP7B gene mutations in Wilson disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Apr 31 (2): 185-8. Sun Wei, Guan Junjie, Wang Jin, Qin Zhengho |
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Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Parkinsonism & related disorders 2014 Jan 20 (1): 75-81. Mukherjee Shashwata, Dutta Shruti, Majumdar Sulagna, Biswas Tamoghna, Jaiswal Preeti, Sengupta Mainak, Bhattacharya Abhisek, Gangopadhyay Prasanta K, Bavdekar Ashish, Das Shyamal K, Ray Kun |
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Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Annals of human genetics 2013 Jul 77 (4): 299-307. Aggarwal Annu, Chandhok Gursimran, Todorov Theodor, Parekh Saloni, Tilve Sharada, Zibert Andree, Bhatt Mohit, Schmidt Hartmut H |
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Association of dopamine receptor gene polymorphisms with the clinical course of Wilson disease.
JIMD reports 2013 8 73-80. Litwin T, Gromadzka G, Samochowiec J, Grzywacz A, Cz?onkowski A, Cz?onkowska |
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Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Journal of human genetics 2012 Dec . Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX |
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Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Journal of human genetics 2012 Sep 57 (9): 564-7. Hofer Harald, Willheim-Polli Claudia, Knoflach Peter, Gabriel Christian, Vogel Wolfgang, Trauner Michael, Müller Thomas, Ferenci Pet |
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Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.
The neurologist 2012 Jul 18 (4): 184-9. Mihaylova Violeta, Todorov Teodor, Jelev Hristo, Kotsev Iskren, Angelova Ludmila, Kosseva Olga, Georgiev Georgi, Ganeva Ralica, Cherninkova Silvia, Tankova Ludmila, Savov Aleksei, Tournev Ivai |
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Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) 2012 Jun 26 (2-3): 97-101. Bost Muriel, Piguet-Lacroix Guénaelle, Parant François, Wilson C M |
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Iron metabolism and the role of HFE gene polymorphisms in Wilson disease.
Liver international : official journal of the International Association for the Study of the Liver 2012 Jan 32 (1): 165-70. Pfeiffenberger Jan, Gotthardt Daniel N, Herrmann Thomas, Seessle Jessica, Merle Uta, Schirmacher Peter, Stremmel Wolfgang, Weiss Karl Hei |
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Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
Hepatology research : the official journal of the Japan Society of Hepatology 2011 Jun . Tatsumi Y, Shinohara T, Imoto M, Wakusawa S, Yano M, Hayashi K, Hattori A, Hayashi H, Shimizu A, Ichiki T, Nakashima S, Katano Y, Goto H |
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Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Journal of inherited metabolic disease 2010 Dec 33 Suppl 3 S233-40. Weiss Karl Heinz, Runz Heiko, Noe Barbara, Gotthardt Daniel Nils, Merle Uta, Ferenci Peter, Stremmel Wolfgang, Füllekrug Joach |
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Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Hepatology (Baltimore, Md.) 2010 Nov 52 (5): 1662-70. Wan Lei, Tsai Chang-Hai, Hsu Chin-Moo, Huang Chin-Chang, Yang Chih-Chao, Liao Chiu-Chu, Wu Chin-Ching, Hsu Yu-An, Lee Cheng-Chun, Liu Su-Ching, Lin Wei-De, Tsai Fuu-J |
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Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.
Clinica chimica acta; international journal of clinical chemistry 2010 Sep 411 (17-18): 1223-31. Lin Chin-Wen, Er Tze-Kiong, Tsai Fu-Jen, Liu Ta-Chi, Shin Pang-Yin, Chang Jan-Gow |
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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
BMC gastroenterology 2010 10 (1): 8. Merle Uta, Weiss Karl Heinz, Eisenbach Christoph, Tuma Sabine, Ferenci Peter, Stremmel Wolfga |
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Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Oct 16 (10): 1130-7. Lirong J, Jianjun J, Hua Z, Guoqiang F, Yuhao Z, Xiaoli P, Xiaomin Z, Yuwen Z, Yu M, Jie C, Jihong D, Yueshi M, Zhenyao M, Chunjiu |
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[Introduction of DNA microarray in molecular diagnostics of Wilson disease].
Casopís lékar?? c?eských 2009 148 (3): 137-40. Gojová L, Jansová E, Pouchlá S, Fajkusová |
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Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 0 15 (3-4): 114-8. El-Mougy Fatma A, Sharaf Sahar A A, Elsharkawy Marwa M, Mandour Iman A, El-Essawy Riham A, Eldin Abeer M, Helmy Heba M, Soliman Dina H, Selim Lamia H, Sharafeldin Heba M, Mogahed Engy A, El-Karaksy Hanaa |
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- Page last updated:Mar 03, 2021
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