Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 177 Records) |
Query Trace: RFC1[original query] |
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Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. Annals of neurology 2020 9 88 (6): 1132-1143. Wan Linlin, Chen Zhao, Wan Na, Liu Mingjie, Xue Jin, Chen Hongsheng, Zhang Youming, Peng Yun, Tang Zhichao, Gong Yiqing, Yuan Hongyu, Wang Shang, Deng Qi, Hou Xuan, Wang Chunrong, Peng Huirong, Shi Yuting, Peng Linliu, Lei Lijing, Duan Ranhui, Xia Kun, Qiu Rong, Shen Lu, Tang Beisha, Ashizawa Tetsuo, Jiang Ho |
A M?ori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain : a journal of neurology 2020 8 143 (9): 2673-2680. Beecroft Sarah J, Cortese Andrea, Sullivan Roisin, Yau Wai Yan, Dyer Zoe, Wu Teddy Y, Mulroy Eoin, Pelosi Luciana, Rodrigues Miriam, Taylor Rachael, Mossman Stuart, Leadbetter Ruth, Cleland James, Anderson Tim, Ravenscroft Gianina, Laing Nigel G, Houlden Henry, Reilly Mary M, Roxburgh Richard |
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. Journal of human genetics 2020 Jul . Tsuchiya Mai, Nan Haitian, Koh Kishin, Ichinose Yuta, Gao Lihua, Shimozono Keisuke, Hata Takanori, Kim Yeon-Jeong, Ohtsuka Toshihisa, Cortese Andrea, Takiyama Yoshihi |
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort. Neurology. Genetics 2020 6 6 (3): e440. Aboud Syriani Dona, Wong Darice, Andani Sameer, De Gusmao Claudio M, Mao Yuanming, Sanyoura May, Glotzer Giacomo, Lockhart Paul J, Hassin-Baer Sharon, Khurana Vikram, Gomez Christopher M, Perlman Susan, Das Soma, Fogel Brent |
B vitamin blood concentrations and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a unit of transfusion medicine: a cross-sectional study. European journal of nutrition 2020 Dec . Bortolus Renata, Filippini Francesca, Udali Silvia, Rinaldi Marianna, Genesini Sabrina, Gandini Giorgio, Montagnana Martina, Chiaffarino Francesca, Lippi Giuseppe, Pattini Patrizia, De Grandi Gelinda, Olivieri Oliviero, Parazzini Fabio, Friso Simonet |
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. Journal of the neurological sciences 2021 9 430 118061. Abramzon Yevgenya, Dewan Ramita, Cortese Andrea, Resnick Susan, Ferrucci Luigi, Houlden Henry, Traynor Bryan |
The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis. Medical science monitor : international medical journal of experimental and clinical research 2021 5 27 e929911. Yi Kang, Ma Yu-Hu, Wang Wei, Zhang Xin, Gao Jie, He Shao-E, Xu Xiao-Min, Ji Meng, Guo Wen-Fen, You T |
Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring. European journal of pediatrics 2021 Apr . Qin Jiabi, Li Jinqi, Li Fang, Sun Mengting, Wang Tingting, Diao Jingyi, Zhang Senmao, Luo Liu, Li Yihuan, Chen Letao, Huang Peng, Zhu Pi |
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. PLoS genetics 2021 Mar 17 (3): e1009413. Patel Jenil, Bircan Emine, Tang Xinyu, Orloff Mohammed, Hobbs Charlotte A, Browne Marilyn L, Botto Lorenzo D, Finnell Richard H, Jenkins Mary M, Olshan Andrew, Romitti Paul A, Shaw Gary M, Werler Martha M, Li Jingyun, Nembhard Wendy N, |
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort. Journal of neurology 2021 3 268 (9): 3337-3343. Montaut Solveig, Diedhiou Nadège, Fahrer Pauline, Marelli Cécilia, Lhermitte Benoit, Robelin Laura, Vincent Marie Claire, Corti Lucas, Taieb Guillaume, Gebus Odile, Rudolf Gabrielle, Tarabeux Julien, Dondaine Nicolas, Canuet Matthieu, Almeras Marilyne, Benkirane Mehdi, Larrieu Lise, Chanson Jean-Baptiste, Nadaj-Pakleza Aleksandra, Echaniz-Laguna Andoni, Cauquil Cécile, Lannes Béatrice, Chelly Jamel, Anheim Mathieu, Puccio Hélène, Tranchant Christi |
Influence of RFC1 c.80A>G Polymorphism on Methotrexate-Mediated Toxicity and Therapeutic Efficacy in Rheumatoid Arthritis: A Meta-analysis. The Annals of pharmacotherapy 2021 Mar 10600280211002053. Naushad Shaik Mohammad, Alrokayan Salman A, Almajhdi Fahad N, Hussain Tajam |
Association of Multiple Gene Polymorphisms Including Homozygous NUDT15 R139C With Thiopurine Intolerance During the Treatment of Acute Lymphoblastic Leukemia. Journal of pediatric hematology/oncology 2021 2 43 (8): e1173-e1176. Kudo Ko, Sato Tomohiko, Takahashi Yuka, Yuzawa Kentaro, Kobayashi Akie, Kamio Takuya, Sasaki Shinya, Shimada Jun, Otani Katsuki, Tusjimoto Shinichi, Kato Motohiro, Toki Tsutomu, Terui Kiminori, Ito Etsu |
The Role of Genetic Polymorphisms in High-Dose Methotrexate Toxicity and Response in Hematological Malignancies: A Systematic Review and Meta-Analysis. Frontiers in pharmacology 2021 12 757464. Song Zaiwei, Hu Yang, Liu Shuang, Jiang Dan, Yi Zhanmiao, Benjamin Mason M, Zhao Rongshe |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
Is Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? - A Case Report. Pharmacogenomics and personalized medicine 2022 5 15 465-475. Jeiziner Chiara, Allemann Samuel S, Hersberger Kurt E, Meyer Zu Schwabedissen Henriette |
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. European journal of neurology 2022 3 29 (7): 2156-2161. Beijer Danique, Dohrn Maike F, De Winter Jonathan, Fazal Sarah, Cortese Andrea, Stojkovic Tanya, Fernández-Eulate Gorka, Remiche Gauthier, Gentile Mattia, Van Coster Rudy, Dufke Claudia, Synofzik Matthis, De Jonghe Peter, Züchner Stephan, Baets Jonath |
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain : a journal of neurology 2022 3 145 (3): 1139-1150. Miyatake Satoko, Yoshida Kunihiro, Koshimizu Eriko, Doi Hiroshi, Yamada Mitsunori, Miyaji Yosuke, Ueda Naohisa, Tsuyuzaki Jun, Kodaira Minori, Onoue Hiroyuki, Taguri Masataka, Imamura Shintaro, Fukuda Hiromi, Hamanaka Kohei, Fujita Atsushi, Satoh Mai, Miyama Takabumi, Watanabe Nobuko, Kurita Yusuke, Okubo Masaki, Tanaka Kenichi, Kishida Hitaru, Koyano Shigeru, Takahashi Tatsuya, Ono Yoya, Higashida Kazuhiro, Yoshikura Nobuaki, Ogata Katsuhisa, Kato Rumiko, Tsuchida Naomi, Uchiyama Yuri, Miyake Noriko, Shimohata Takayoshi, Tanaka Fumiaki, Mizuguchi Takeshi, Matsumoto Naomic |
Associations of variants of folate cycle genes with features of the clinical course of severe intraventricular hemorrhages in premature infants. Journal of neonatal-perinatal medicine 2022 3 15 (3): 545-551. Fishchuk L, Rossokha Z, Pokhylko V, Cherniavska Yu, Popova O, Tsvirenko S, Gorovenko |
An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population. Journal of clinical medicine 2022 3 11 (5): . Zió?kowska Katarzyna, Tobo?a-Wróbel Kinga, Pietryga Marek, Kasprzak Gra?yna, Jamsheer Aleksander, Wysocka E |
Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte. Molecular genetics and genomics : MGG 2022 11 298 (1): 293-313. Halder Pinku, Pal Upamanyu, Ganguly Agnish, Ghosh Papiya, Ray Anirban, Sarkar Sumantra, Ghosh Suj |
Lifestyle and dietary factors, iron status and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a Transfusion Medicine Unit: a cross-sectional study. The British journal of nutrition 2022 10 1-6. Bortolus Renata, Filippini Francesca, Chiaffarino Francesca, Udali Silvia, Rinaldi Marianna, Gandini Giorgio, Montagnana Martina, Lippi Giuseppe, Olivieri Oliviero, Parazzini Fabio, Friso Simonet |
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain communications 2023 8 5 (4): fcad208. Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Darshan Ghia, Robert D Henderson, Nerissa Jordan, Antony Winkel, Phillipa J Lamont, Miriam J Rodrigues, Richard H Roxburgh, Ben Weisburd, Nigel G Laing, Ira W Deveson, Mark R Davis, Gianina Ravenscro |
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
Polymorphisms in Maternal Selected Folate Metabolism-Related Genes in Neural Tube Defect-Affected Pregnancy. Advanced biomedical research 2023 8 12 160. Winner K Dewelle, Daniel S Melka, Abenezer T Aklilu, Mahlet Y Gebremariam, Markos A Alemayehu, Dawit H Alemayehu, Tamrayehu S Woldemichael, Solomon G Geb |
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. Movement disorders : official journal of the Movement Disorder Society 2023 12 . Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernande-Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines Albajar, Rhiannon Laban, Alexander M Rossor, Anna Pichiecchio, Giuseppe Cosentino, Paola Saveri, Ettore Salsano, Francesca Andreetta, Enza M Valente, Henrik Zetterberg, Paola Giunti, Tanya Stojkovic, Chiara Briani, Adolfo López de Munain, Davide Pareyson, Mary M Reilly, Henry Houlden, Cristina Tassorelli, Andrea Corte |
Single-nucleotide polymorphism profiling by multimodal-targeted next-generation sequencing in methotrexate-resistant and -sensitive human osteosarcoma cell lines. Frontiers in pharmacology 2023 12 14 1294873. Chiara Casotti, Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Michela Pasello, Katia Scotlandi, Toni Ibrahim, Massimo Ser |
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics 2023 11 . Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Far |
Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study. International journal of reproductive biomedicine 2024 4 22 (2): 127-138. Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-A |
Correlation between gene polymorphism and adverse reactions of high-dose methotrexate in osteosarcoma patients: a systematic review and meta-analysis. World journal of surgical oncology 2024 1 22 (1): 19. Ben Liu, Gang Liu, Binbin Liu, Yao Guo, Ningning Peng, Tiejun |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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