Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Deafness and MELAS[original query] |
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Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. American journal of human genetics 2003 Apr 72 (4): 1005-12. Torroni Antonio, Campos Yolanda, Rengo Chiara, Sellitto Daniele, Achilli Alessandro, Magri Chiara, Semino Ornella, García Alberto, Jara Pilar, Arenas Joaquín, Scozzari Rosar |
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Italian heart journal : official journal of the Italian Federation of Cardiology 2004 Jun 5 (6): 460-5. Menotti Francesca, Brega Agnese, Diegoli Marta, Grasso Maurizia, Modena Maria Grazia, Arbustini Eloi |
A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance. Acta diabetologica 2004 Dec 41 (4): 179-84. Martin-Kleiner I, Pape-Medvidovi? E, Pavli?-Renar I, Metelko Z, Kusec R, Gabrilovac J, Borani? |
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. Journal of neurology, neurosurgery, and psychiatry 2013 Jan . Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R |
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? Journal of neurology 2014 Mar 261 (3): 504-10. Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Carelli Valerio, Comi Giacomo Pietro, Donati Alice, Minetti Carlo, Moggio Maurizio, Mongini Tiziana, Servidei Serenella, Tonin Paola, Toscano Antonio, Uziel Graziella, Bruno Claudio, Ienco Elena Caldarazzo, Filosto Massimiliano, Lamperti Costanza, Catteruccia Michela, Moroni Isabella, Musumeci Olimpia, Pegoraro Elena, Ronchi Dario, Santorelli Filippo Maria, Sauchelli Donato, Scarpelli Mauro, Sciacco Monica, Valentino Maria Lucia, Vercelli Liliana, Zeviani Massimo, Siciliano Gabrie |
Audiological and Vestibular Findings in Subjects with MELAS Syndrome. The journal of international advanced otology 2019 7 15 (2): 296-303. Hougaard Dan Dupont, Hestoy Danial Hofgaard, Hojland Allan Thomas, Gailhede Michael, Petersen Michael Bjo |
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss. Molecular genetics and metabolism 2022 2 135 (4): 333-341. van Kempen Carlijn M A, Beynon Andy J, Smits Jeroen J, Janssen Mirian C |
Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases. Molecular genetics and metabolism 2023 9 140 (3): 107691. Kunimasa Yagi, Satoko Okazaki, Azusa Ohbatake, Masako Nakaya, Jianhui Liu, Eiko Arite, Yukiko Miyamoto, Naoko Ito, Kaoru Nakano, Naoto Yamaaki, Hisae Honoki, Shiho Fujisaka, Daisuke Chujo, Shin-Ichiro Tsunoda, Kunio Yanagimoto, Tsuyoshi Nozue, Masayo Yamada, Kotaro Ooe, Tsutomu Araki, Akikatsu Nakashima, Yasushi Azami, Yukio Sodemoto, Kenichi Tadokoro, Makoto Nagano, Tohru Noguchi, Atushi Nohara, Hideki Origasa, Yo Niida, Hayato Ta |
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