128 related articles for article (PubMed ID: 31143779)
1. De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
Jiang Z; Zhang Y; Yan J; Li F; Geng X; Lu H; Wei X; Feng Y; Wang C; Jia W
J Diabetes Res; 2019; 2019():5184647. PubMed ID: 31143779
[TBL] [Abstract][Full Text] [Related]
2. The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients.
Yang M; Xu L; Xu C; Cui Y; Jiang S; Dong J; Liao L
Front Endocrinol (Lausanne); 2021; 12():728043. PubMed ID: 34899594
[TBL] [Abstract][Full Text] [Related]
3. Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
Rho EH; Baek SI; Lee H; Seong MW; Chae JH; Park KS; Kwak SH
Diabetes Metab J; 2024 May; 48(3):482-486. PubMed ID: 38311059
[TBL] [Abstract][Full Text] [Related]
4. The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10-year follow-up observation study and literature review.
Zheng S; Wang J; Sun M; Wang P; Shi W; Zhang Z; Wang Z; Zhang H
Clin Case Rep; 2024 Feb; 12(2):e8458. PubMed ID: 38314188
[TBL] [Abstract][Full Text] [Related]
5. Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series.
Seo JS
Medicine (Baltimore); 2024 Mar; 103(10):e37447. PubMed ID: 38457558
[TBL] [Abstract][Full Text] [Related]
6. Identification of eight genomic protective alleles for mitochondrial diabetes by Kinship-graph convolutional network.
Wang J; Yan D; Cui H; Zhang R; Ma X; Chen L; Hu C; Wu J
J Diabetes Investig; 2024 Jan; 15(1):52-62. PubMed ID: 38157301
[TBL] [Abstract][Full Text] [Related]
7. Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Cannon SJ; Hall T; Hawkes G; Colclough K; Boggan RM; Wright CF; Pickett SJ; Hattersley AT; Weedon MN; Patel KA
Hum Mol Genet; 2024 Feb; 33(5):465-474. PubMed ID: 37988592
[TBL] [Abstract][Full Text] [Related]
8. Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients.
van de Peppel IP; Demirdas S; Özcan B
Front Endocrinol (Lausanne); 2023; 14():1205862. PubMed ID: 37351107
[No Abstract] [Full Text] [Related]
9. Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.
Ferreira F; Gonçalves Bacelar C; Lisboa-Gonçalves P; Paulo N; Quental R; Nunes AT; Silva R; Tavares I
Nefrologia (Engl Ed); 2023 Dec; 43 Suppl 2():1-7. PubMed ID: 38355238
[TBL] [Abstract][Full Text] [Related]
10. Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.
Makgopa H; Kemp T; Meldau S; Honey EM; Chale-Matsau B
Afr J Lab Med; 2024; 13(1):2384. PubMed ID: 38840956
[TBL] [Abstract][Full Text] [Related]
11. The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
Saunders C; Longman C; Gorman G; James K; Oliwa A; Petty R; Snadden L; Farrugia ME
J Neuromuscul Dis; 2024; 11(1):179-189. PubMed ID: 38108361
[TBL] [Abstract][Full Text] [Related]
12. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Hall AM; Vilasi A; Garcia-Perez I; Lapsley M; Alston CL; Pitceathly RD; McFarland R; Schaefer AM; Turnbull DM; Beaumont NJ; Hsuan JJ; Cutillas PR; Lindon JC; Holmes E; Unwin RJ; Taylor RW; Gorman GS; Rahman S; Hanna MG
Kidney Int; 2015 Mar; 87(3):610-22. PubMed ID: 25207879
[TBL] [Abstract][Full Text] [Related]
13. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso M; Orsucci D; Angelini C; Bertini E; Carelli V; Comi GP; Donati A; Minetti C; Moggio M; Mongini T; Servidei S; Tonin P; Toscano A; Uziel G; Bruno C; Ienco EC; Filosto M; Lamperti C; Catteruccia M; Moroni I; Musumeci O; Pegoraro E; Ronchi D; Santorelli FM; Sauchelli D; Scarpelli M; Sciacco M; Valentino ML; Vercelli L; Zeviani M; Siciliano G
J Neurol; 2014 Mar; 261(3):504-10. PubMed ID: 24375076
[TBL] [Abstract][Full Text] [Related]
14. Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.
Matsumoto S; Uchiumi T; Noda N; Ueyanagi Y; Hotta T; Kang D
Lab Med; 2024 Mar; 55(2):227-233. PubMed ID: 37478467
[TBL] [Abstract][Full Text] [Related]
15. A case-comparison study of pregnant women with mitochondrial disease - what to expect?
Feeney CL; Lim AZ; Fagan E; Blain A; Bright A; Maddison J; Devine H; Stewart J; Taylor RW; Gorman GS; Turnbull DM; Nesbitt V; McFarland R
BJOG; 2019 Oct; 126(11):1380-1389. PubMed ID: 30801962
[TBL] [Abstract][Full Text] [Related]
16. Maternally Inherited Diabetes and Deafness (MIDD) - Atypical Clinical Diabetes Features Leading to the Diagnosis.
Kyriakidou A; Hadjivassiliou M; Papapostolou A; Picolos MK
JCEM Case Rep; 2023 May; 1(3):luad047. PubMed ID: 37908567
[TBL] [Abstract][Full Text] [Related]
17. Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.
Yagi K; Okazaki S; Ohbatake A; Nakaya M; Liu J; Arite E; Miyamoto Y; Ito N; Nakano K; Yamaaki N; Honoki H; Fujisaka S; Chujo D; Tsunoda SI; Yanagimoto K; Nozue T; Yamada M; Ooe K; Araki T; Nakashima A; Azami Y; Sodemoto Y; Tadokoro K; Nagano M; Noguchi T; Nohara A; Origasa H; Niida Y; Tada H
Mol Genet Metab; 2023 Nov; 140(3):107691. PubMed ID: 37660570
[TBL] [Abstract][Full Text] [Related]
18. Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation.
Zhang T; Su R; Xiang W; Wang W
Ir J Med Sci; 2024 Apr; 193(2):937-943. PubMed ID: 37561388
[TBL] [Abstract][Full Text] [Related]
19. T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
Walker MA; Li S; Livak KJ; Karaa A; Wu CJ; Mootha VK
J Inherit Metab Dis; 2024 Mar; ():. PubMed ID: 38499449
[TBL] [Abstract][Full Text] [Related]
20. Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia.
Liao NY; Lai KL; Liao YC; Hsiao CT; Lee YC
J Formos Med Assoc; 2023 Oct; 122(10):1028-1034. PubMed ID: 37311680
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
