Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: SURF1[original query] |
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High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009 Mar 13 (2): 146-53. Piekutowska-Abramczuk Dorota, Popowska Ewa, Pronicki Maciej, Karczmarewicz Elzbieta, Tylek-Lemanska Dorota, Sykut-Cegielska Jolanta, Szymanska-Dembinska Tamara, Bielecka Liliana, Krajewska-Walasek Malgorzata, Pronicka E |
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 2015 Sep 25 6-16. Bindu Parayil Sankaran, Arvinda Hanumanthapura, Taly Arun B, Govindaraju Chikanna, Sonam Kothari, Chiplunkar Shwetha, Kumar Rakesh, Gayathri Narayanappa, Bharath Mm Srinivas, Nagappa Madhu, Sinha Sanjib, Khan Nahid Akthar, Govindaraj Periyasamy, Nunia Vandana, Paramasivam Arumugam, Thangaraj Kumarasa |
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 2016 Jan . Bindu Parayil Sankaran, Govindaraju C, Sonam Kothari, Nagappa Madhu, Shwetha Chiplunkar, Kumar Rakesh, Gayathri N, Srinivas Bharath M M, Arvinda Hanumanthapura R, Sinha Sanjib, Khan Nahid Akthar, Govindaraj P, Nunia Vandana, Paramsivam A, Thangaraj K, Taly Arun |
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. The Journal of molecular diagnostics : JMD 2019 3 21 (3): 503-513. Schoonen Maryke, Smuts Izelle, Louw Roan, Elson Joanna L, van Dyk Etresia, Jonck Lindi-Maryn, Rodenburg Richard J T, van der Westhuizen Francois |
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. Frontiers in neurology 2020 10 11 1000. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wang |
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. Journal of clinical pathology 2020 10 75 (1): 34-38. Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tra |
Genetic Polymorphisms Involved in Mitochondrial Metabolism and Pancreatic Cancer Risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021 Sep . Peduzzi Giulia, Gentiluomo Manuel, Tavano Francesca, Arcidiacono Paolo Giorgio, Ermini Stefano, Vodicka Pavel, Boggi Ugo, Cavestro Giulia Martina, Capurso Gabriele, Morelli Luca, Milanetto Anna Caterina, Pezzilli Raffaele, Lawlor Rita T, Carrara Silvia, Lovecek Martin, Sou?ek Pavel, Guo Feng, Hackert Thilo, Uzuno?lu Faik G, Gazouli Maria, Párniczky Andrea, Kupcinskas Juozas, Bijlsma Maarten F, Bueno-de-Mesquita Bas, Vermeulen Roel, van Eijck Casper H J, Jamroziak Krzysztof, Talar-Wojnarowska Renata, Greenhalf William, Gioffreda Domenica, Petrone Maria C, Landi Stefano, Archibugi Livia, Puzzono Marta, Funel Niccola, Sperti Cosimo, Piredda Maria L, Mohelnikova-Duchonova Beatrice, Lu Ye, Hlavá? Viktor, Gao Xin, Schneider Martin, Izbicki Jakob R, Theodoropoulos George, Bunduc Stefania, Kreivenaite Edita, Busch Olivier R, Ma?ecka-Panas Ewa, Costello Eithne, Perri Francesco, Testoni Sabrina Gloria Giulia, Vanella Giuseppe, Pasquali Claudio, Oliverius Martin, Brenner Hermann, Loos Martin, Götz Mara, Georgiou Konstantinos, Er?ss Bálint, Maiello Evaristo, Szentesi Andrea, Bazzocchi Francesca, Basso Daniela, Neoptolemos John P, Hegyi Péter, Kiudelis Vytautas, Canzian Federico, Campa Danie |
Using multi-tissue transcriptome-wide association study to identify candidate susceptibility genes for respiratory infectious diseases. Frontiers in genetics 2023 4 14 1164274. Zhu Xiaobo, Zou Yixin, Jia Linna, Ye Xiangyu, Zou Yanzheng, Tu Junlan, Li Juntong, Yu Rongbin, Yang Sheng, Huang Pe |
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies. Brain & development 2023 12 . Sareh Hosseinpour, Ehsan Razmara, Morteza Heidari, Zahra Rezaei, Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Reyhaneh Kameli, Ali Hosseini Bereshneh, Hassan Vahidnezhad, Reza Azizimalamiri, Zahra Zamani, Neda Pak, Maryam Rasulinezhad, Bahram Mohammadi, Homa Ghabeli, Mohammad Ghafouri, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Sasan Saket, Bahareh Rabbani, Nejat Mahdieh, Ali Ahani, Masoud Garshasbi, Ali Reza Tavaso |
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia. International journal of molecular sciences 2023 1 24 (2): . Kistol Denis, Tsygankova Polina, Krylova Tatiana, Bychkov Igor, Itkis Yulia, Nikolaeva Ekaterina, Mikhailova Svetlana, Sumina Maria, Pechatnikova Natalia, Kurbatov Sergey, Bostanova Fatima, Migiaev Ochir, Zakharova Ekateri |
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- Page last updated:May 20, 2024
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