Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: TPP1[original query] |
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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a journal of neurology 2009 Mar 132 (Pt 3): 810-9. Kousi Maria, Siintola Eija, Dvorakova Lenka, Vlaskova Hana, Turnbull Julie, Topcu Meral, Yuksel Deniz, Gokben Sarenur, Minassian Berge A, Elleder Milan, Mole Sara E, Lehesjoki Anna-Eli |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres. Thyroid : official journal of the American Thyroid Association 2012 Apr 22 (4): 363-8. Cantara Silvia, Capuano Serena, Capezzone Marco, Benigni Michele, Pisu Milena, Marchisotta Stefania, Pacini Fur |
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. Gene 2016 Aug . Sleat David E, Gedvilaite Erika, Zhang Yeting, Lobel Peter, Xing Jinchu |
A Rare Variant P507L in TPP1 Interrupts TPP1-TIN2 Interaction, Influences Telomere Length, and Confers Colorectal Cancer Risk in Chinese Population. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jun . Li Jiaoyuan, Chang Jiang, Tian Jianbo, Ke Juntao, Zhu Ying, Yang Yang, Gong Yajie, Zou Danyi, Peng Xiating, Yang Nan, Mei Shufang, Wang Xiaoyang, Cheng Liming, Hu Weiguo, Gong Jing, Zhong Rong, Miao Xiaopi |
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. BMC medical genetics 2018 3 19 (1): 46. Prasad Aparna, Sdano Matthew A, Vanzo Rena J, Mowery-Rushton Patricia A, Serrano Moises A, Hensel Charles H, Wassman E Robe |
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. Seizure 2019 5 69 180-185. Chen Zi-Rong, Liu De-Tian, Meng Heng, Liu Liu, Bian Wen-Jun, Liu Xiao-Rong, Zhu Wei-Wen, He Yong, Wang Jie, Tang Bin, Su Tao, Yi Yong-Ho |
Genetic polymorphisms, mRNA expression levels of telomere-binding proteins, and associates with telomere damage in PAHs-Exposure workers. Chemosphere 2019 5 231 442-449. Duan Xiaoran, Yang Yongli, Zhang Daping, Wang Sihua, Feng Xiaolei, Wang Tuanwei, Wang Pengpeng, Ding Mingcui, Zhang Hui, Liu Bin, Wei Wan, Yao Wu, Cui Liuxin, Zhou Xiaoshan, Wang W |
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. Molecular genetics & genomic medicine 2020 5 8 (7): e1228. Kozina Anastasiya A, Okuneva Elena G, Baryshnikova Natalia V, Kondakova Olga B, Nikolaeva Ekaterina A, Fedoniuk Inessa D, Mikhailova Svetlana V, Krasnenko Anna Y, Stetsenko Ivan F, Plotnikov Nikolay A, Klimchuk Olesia I, Popov Yaroslav V, Surkova Ekaterina I, Shatalov Peter A, Rakitko Alexander S, Ilinsky Valery |
Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm. Frontiers in neurology 2020 2 10 1387. Dong Hongjuan, Luo Ying, Fan Shanghua, Yin Bo, Weng Chao, Peng B |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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- Page last updated:Mar 25, 2024
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