Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 18 (of 18 Records) |
Query Trace: Maternally Inherited Diabetes And Deafness[original query] |
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Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. Journal of human genetics 2001 46 (10): 595-9. Nagata H, Kumahara K, Tomemori T, Arimoto Y, Isoyama K, Yoshida K, Konno |
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Human molecular genetics 2002 Jun 11 (13): 1581-3. Poulton Joanna, Luan Jian'an, Macaulay Vincent, Hennings Susie, Mitchell Jo, Wareham Nicholas |
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 2002 Jul 51 (7): 2317-20. Choo-Kang Alan T W, Lynn Stephen, Taylor Geoffrey A, Daly Mark E, Sihota Sarbpreet S, Wardell Teressa M, Chinnery Patrick F, Turnbull Douglass M, Walker Ma |
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). Diabetes & metabolism 2004 Apr 30 (2): 181-6. Guillausseau P J, Dubois-Laforgue D, Massin P, Laloi-Michelin M, Bellanné-Chantelot C, Gin H, Bertin E, Blickle J F, Bauduceau B, Bouhanick B, Cahen-Varsaux J, Casanova S, Charpentier G, Chedin P, Derrien C, Grimaldi A, Guerci B, Kaloustian E, Lorenzini F, Murat A, Olivier F, Paques M, Paquis-Flucklinger V, Tielmans A, Vincenot M, Vialettes B, Timsit J, |
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 225-30. Singh Rinki, Ellard Sian, Hattersley Andrew, Harries Lorna |
The G1888A variant in the mitochondrial 16S rRNA gene may be associated with Type 2 diabetes in Caucasian-Brazilian patients from southern Brazil. Diabetic medicine : a journal of the British Diabetic Association 2005 Dec 22 (12): 1683-9. Crispim D, Canani L H, Gross J L, Carlessi R M, Tschiedel B, Souto K E P, Roisenberg |
Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka. Diabetic medicine : a journal of the British Diabetic Association 2008 Mar 25 (3): 370-4. Katulanda P, Groves C J, Barrett A, Sheriff R, Matthews D R, McCarthy M I, Gloyn A |
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects. The Journal of clinical endocrinology and metabolism 2009 Aug 94 (8): 2872-9. Frederiksen Anja Lisbeth, Jeppesen Tina Dysgaard, Vissing John, Schwartz Marianne, Kyvik Kirsten Ohm, Schmitz Ole, Poulsen Per Løgstrup, Andersen Per Hed |
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013 Sep 56 (9): 1958-63. Ellard S, Lango Allen H, De Franco E, Flanagan S E, Hysenaj G, Colclough K, Houghton J A L, Shepherd M, Hattersley A T, Weedon M N, Caswell |
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 |
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation. BMC medical genetics 2015 16 (1): 92. Zhou Mei-Cen, Min Rui, Ji Jian-Jun, Zhang Shi, Tong An-Li, Xu Jian-Ping, Li Zeng-Yi, Zhang Hua-Bing, Li Yu-X |
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 |
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study. Neurology 2020 10 96 (2): e241-e249. Primiano Guido, Brunetti Valerio, Vollono Catello, Losurdo Anna, Moroni Rossana, Della Marca Giacomo, Servidei Serenel |
Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus. International journal of general medicine 2021 9 14 5719-5735. Lin Liangyan, Zhang Dongdong, Jin Qingsong, Teng Yaqin, Yao Xiaoyan, Zhao Tiantian, Xu Xinmiao, Jin Yongj |
Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation-associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report. Journal of diabetes investigation 2021 8 13 (2): 397-401. Zhang Xiaojuan, Chen Yongyong, Tong Nanwei, Shao Qing, Zhou Yueyang, Mu Tong, Yang Xiaoling, Zhang Yuw |
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene. Molecular syndromology 2022 9 13 (4): 305-317. Mara? Genç Hülya, Akp?nar Gürler, Kasap Murat, Uyur Yalç?n Emek, Üstek Duran, Aslanger Ayça Dilruba, Kara Büle |
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 |
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity. Journal of neuromuscular diseases 2023 12 . Charlie Saunders, Cheryl Longman, Grainne Gorman, Kelly James, Agata Oliwa, Richard Petty, Lesley Snadden, Maria Elena Farrug |
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