These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 30516030)

  • 1. Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.
    de Laat P; Rodenburg RJ; Smeitink JAM; Janssen MCH
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00523. PubMed ID: 30516030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.
    de Laat P; Fleuren LH; Bekker MN; Smeitink JA; Janssen MC
    Mitochondrion; 2015 Nov; 25():98-103. PubMed ID: 26455484
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
    de Laat P; Koene S; van den Heuvel LP; Rodenburg RJ; Janssen MC; Smeitink JA
    J Inherit Metab Dis; 2012 Nov; 35(6):1059-69. PubMed ID: 22403016
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
    de Laat P; Rodenburg RR; Roeleveld N; Koene S; Smeitink JA; Janssen MC
    J Med Genet; 2021 Jan; 58(1):48-55. PubMed ID: 32439810
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P; Smeitink JAM; Janssen MCH; Keunen JEE; Boon CJF
    Ophthalmology; 2013 Dec; 120(12):2684-2696. PubMed ID: 23806424
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Determining Mitochondrial 3243A>G Heteroplasmy Using an ARMS-ddPCR Strategy.
    Xu P; Jia M; Yan J; Yuan X; Yu W; Zhou Z; Fang H; Gao F; Shen L
    Am J Clin Pathol; 2022 May; 157(5):664-677. PubMed ID: 34698344
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial DNA mutation m.3243A>G is associated with altered mitochondrial function in peripheral blood mononuclear cells, with heteroplasmy levels and with clinical phenotypes.
    Geng X; Zhang Y; Yan J; Chu C; Gao F; Jiang Z; Zhang X; Chen Y; Wei X; Feng Y; Lu H; Wang C; Zeng F; Jia W
    Diabet Med; 2019 Jun; 36(6):776-783. PubMed ID: 30536471
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.
    Haast RAM; Ivanov D; IJsselstein RJT; Sallevelt SCEH; Jansen JFA; Smeets HJM; de Coo IFM; Formisano E; Uludağ K
    Neuroimage Clin; 2018; 18():231-244. PubMed ID: 29868447
    [TBL] [Abstract][Full Text] [Related]  

  • 9. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
    Grady JP; Pickett SJ; Ng YS; Alston CL; Blakely EL; Hardy SA; Feeney CL; Bright AA; Schaefer AM; Gorman GS; McNally RJ; Taylor RW; Turnbull DM; McFarland R
    EMBO Mol Med; 2018 Jun; 10(6):. PubMed ID: 29735722
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.
    Koene S; de Laat P; van Tienoven DH; Vriens D; Brandt AM; Sweep FC; Rodenburg RJ; Donders AR; Janssen MC; Smeitink JA
    Neurology; 2014 Jul; 83(2):125-33. PubMed ID: 24907231
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.
    Rubegni A; Cardaioli E; Chini E; Da Pozzo P; Battisti C; Malandrini A; Federico A
    J Neurol Sci; 2014 Mar; 338(1-2):232-4. PubMed ID: 24468540
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heteroplasmy and phenotype spectrum of the mitochondrial tRNA
    Liu G; Shen X; Sun Y; Lv Q; Li Y; Du A
    J Neurol Sci; 2020 Jan; 408():116562. PubMed ID: 31722256
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness].
    Cataldo LR; Olmos P; Valerie Smalley S; Díez A; Parada A; Gejman R; Fadic R; Santos JL
    Rev Med Chil; 2013 Mar; 141(3):305-12. PubMed ID: 23900320
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation.
    de Laat P; Zweers HE; Knuijt S; Smeitink JA; Wanten GJ; Janssen MC
    Neth J Med; 2015 Jan; 73(1):30-6. PubMed ID: 26219939
    [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. 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]  

  • 19. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.
    Laloi-Michelin M; Meas T; Ambonville C; Bellanné-Chantelot C; Beaufils S; Massin P; Vialettes B; Gin H; Timsit J; Bauduceau B; Bernard L; Bertin E; Blickle JF; Cahen-Varsaux J; Cailleba A; Casanova S; Cathebras P; Charpentier G; Chedin P; Crea T; Delemer B; Dubois-Laforgue D; Duchemin F; Ducluzeau PH; Bouhanick B; Dusselier L; Gabreau T; Grimaldi A; Guerci B; Jacquin V; Kaloustian E; Larger E; Lecleire-Collet A; Lorenzini F; Louis J; Mausset J; Murat A; Nadler-Fluteau S; Olivier F; Paquis-Flucklinger V; Paris-Bockel D; Raynaud I; Reznik Y; Riveline JP; Schneebeli S; Sonnet E; Sola-Gazagnes A; Thomas JL; Trabulsi B; Virally M; Guillausseau PJ;
    J Clin Endocrinol Metab; 2009 Aug; 94(8):3025-30. PubMed ID: 19470619
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier.
    Finsterer J
    Am J Case Rep; 2021 Apr; 22():e930175. PubMed ID: 33867519
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.