Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 87 Records) |
| Query Trace: Wilson Disease[original query] |
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| Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. PloS one 2019 5 14 (5): e0215779. Singh Nivedita, Kallollimath Pradeep, Shah Mohd Hussain, Kapoor Saketh, Bhat Vishwanath Kumble, Viswanathan Lakshminarayanapuram Gopal, Nagappa Madhu, Bindu Parayil S, Taly Arun B, Sinha Sanjib, Kumar Ar |
| A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease. Molecular genetics & genomic medicine 2020 8 8 (10): e1428. Woimant France, Poujois Aurelia, Bloch Adrien, Jordi Tabaras, Laplanche Jean-Louis, Morel Hélène, Collet Corin |
| Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice? JHEP reports : innovation in hepatology 2020 7 2 (4): 100114. Espinós Carmen, Ferenci Pet |
| Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report. Medicine 2020 7 99 (28): e20997. Zhang Shijie, Li Liangyong, Wang Jiuxia |
| Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease. Stem cell research 2020 2 43 101708. Petters Janine, Cimmaruta Chiara, Iwanov Katharina, Chang Matthew L, Völkner Christin, Knuebel Gudrun, Murua Escobar Hugo, Frech Moritz J, Hermann Andreas, Rolfs Arndt, Lukas J |
| Prevalence of Wilson disease based on genome databases in Japan. Pediatrics international : official journal of the Japan Pediatric Society 2020 12 63 (8): 918-922. Yamaguchi Hiroshi, Nagase Hiroaki, Tokumoto Shoichi, Tomioka Kazumi, Nishiyama Masahiro, Takeda Hiroki, Ninchoji Takeshi, Nagano China, Iijima Kazumoto, Nozu Kand |
| Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity. Journal of gastroenterology 2020 11 56 (1): 78-89. García-Villarreal Luis, Hernández-Ortega Andrea, Sánchez-Monteagudo Ana, Peña-Quintana Luis, Ramírez-Lorenzo Teresa, Riaño Marta, Moreno-Pérez Raquel, Monescillo Alberto, González-Santana Daniel, Quiñones Ildefonso, Sánchez-Villegas Almudena, Olmo-Quintana Vicente, Garay-Sánchez Paloma, Espinós Carmen, González Jesús M, Tugores Anton |
| Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster. BMC medical genetics 2020 11 21 (1): 225. Brandi Giovanni, Rizzo Alessandro, Deserti Marzia, Relli Valeria, Indio Valentina, Bin Sofia, Pariali Milena, Palloni Andrea, De Lorenzo Stefania, Tovoli Francesco, Tavolari Simo |
| Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia. Balkan journal of medical genetics : BJMG 2020 1 22 (2): 37-42. Zarina A, Tolmane I, Krumina Z, Tutane A I, Gailite |
| Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease. BMC gastroenterology 2021 9 21 (1): 339. Li Mingming, Ma Jing, Wang Wenlong, Yang Xu, Luo Kaizho |
| ATP7B variant spectrum in a French pediatric Wilson disease cohort. European journal of medical genetics 2021 Aug 64 (10): 104305. Couchonnal Eduardo, Bouchard Sophie, Sandahl Thomas Damgaard, Pagan Cecile, Lion-François Laurence, Guillaud Olivier, Habes Dalila, Debray Dominique, Lamireau Thierry, Broué Pierre, Fabre Alexandre, Vanlemmens Claire, Sobesky Rodolphe, Gottrand Frederic, Bridoux-Henno Laure, Belmalih Abdelouahed, Poujois Aurelia, Brunet Anne Sophie, Lachaux Alain, Bost Muri |
| Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations. Scientific reports 2021 Apr 11 (1): 7674. Höflich Clemens, Brieger Angela, Zeuzem Stefan, Plotz Gui |
| 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 |
| 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 |
| Pearls and Oy-sters: Challenges and Controversies in Wilson Disease. Neurology 2022 6 . Ruiz-Lopez Marta, Estébanez Moreno, Tijero Beatriz, Fernandez Tamara, Rebollo-Perez Alba, Gabilondo Iñigo, Lopez-Osle Nuria, Ceberio-Hualde Leticia, Zarranz Juan Jose, Gomez-Esteban Juan Carl |
| 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 |
| [Phenotypes and ATP7B gene variants in 316 children with Wilson disease]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2022 4 60 (4): 317-322. Lu Z K, Cheng J, Li S M, Lin Y T, Zhang W, Li X Z, Sheng H Y, Mao X J, Mei H F, Zheng R D, Liang C L, Jiang M Y, Huang Y L, Liu L, Zeng C |
| 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 |
| [Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
| Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. Hepatology communications 2022 3 6 (7): 1611-1619. Panzer Marlene, Viveiros André, Schaefer Benedikt, Baumgartner Nadja, Seppi Klaus, Djamshidian Atbin, Todorov Theodor, Griffiths William J H, Schott Eckart, Schuelke Markus, Eurich Dennis, Stättermayer Albert Friedrich, Bomford Adrian, Foskett Pierre, Vodopiutz Julia, Stauber Rudolf, Pertler Elke, Morell Bernhard, Tilg Herbert, Müller Thomas, Kiechl Stefan, Jimenez-Heredia Raul, Weiss Karl Heinz, Hahn Si Houn, Janecke Andreas, Ferenci Peter, Zoller Hei |
| 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 |
| 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 |
| 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, |
| 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 |
| 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 |
| Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais. BMC medical genomics 2024 1 17 (1): 9. Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelers |
- Page last reviewed:Feb 1, 2024
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