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354 related items for PubMed ID: 12086967

  • 1. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
    Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M.
    Diabetes; 2002 Jul; 51(7):2317-20. PubMed ID: 12086967
    [Abstract] [Full Text] [Related]

  • 2. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.
    Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800
    [Abstract] [Full Text] [Related]

  • 3. Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.
    Lu J, Wang D, Li R, Li W, Ji J, Zhao J, Ye W, Yang L, Qian Y, Zhu Y, Guan MX.
    Biochem Biophys Res Commun; 2006 Sep 15; 348(1):115-9. PubMed ID: 16876129
    [Abstract] [Full Text] [Related]

  • 4. Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.
    Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC.
    Mol Diagn Ther; 2006 Sep 15; 10(6):381-9. PubMed ID: 17154655
    [Abstract] [Full Text] [Related]

  • 5. A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.
    Akbari M, Skjelbred C, Følling I, Sagen J, Krokan HE.
    Scand J Clin Lab Invest; 2004 Apr 15; 64(2):86-92. PubMed ID: 15115244
    [Abstract] [Full Text] [Related]

  • 6. Molecular and clinical aspects of mitochondrial diabetes mellitus.
    Maassen JA, van Essen E, van den Ouweland JM, Lemkes HH.
    Exp Clin Endocrinol Diabetes; 2001 Apr 15; 109(3):127-34. PubMed ID: 11409293
    [Abstract] [Full Text] [Related]

  • 7. A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.
    Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Charfi N, Abid M, Fakhfakh F.
    Biochem Biophys Res Commun; 2013 Feb 22; 431(4):670-4. PubMed ID: 23357420
    [Abstract] [Full Text] [Related]

  • 8. Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).
    Hendrickx JJ, Mudde AH, 't Hart LM, Huygen PL, Cremers CW.
    Otol Neurotol; 2006 Sep 22; 27(6):802-8. PubMed ID: 16788417
    [Abstract] [Full Text] [Related]

  • 9. Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation.
    van den Ouweland JM, Lemkes HH, Gerbitz KD, Maassen JA.
    Muscle Nerve Suppl; 1995 Sep 22; 3():S124-30. PubMed ID: 7603513
    [Abstract] [Full Text] [Related]

  • 10. Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease.
    van den Ouweland JM, Maechler P, Wollheim CB, Attardi G, Maassen JA.
    Diabetologia; 1999 Apr 22; 42(4):485-92. PubMed ID: 10230654
    [Abstract] [Full Text] [Related]

  • 11. Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus.
    Małecki M, Klupa T, Wanic K, Frey J, Cyganek K, Sieradzki J.
    Med Sci Monit; 2001 Apr 22; 7(2):246-50. PubMed ID: 11257730
    [Abstract] [Full Text] [Related]

  • 12. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
    Ophthalmology; 1999 Jun 22; 106(6):1101-8. PubMed ID: 10366077
    [Abstract] [Full Text] [Related]

  • 13. A case of mitochondrial diabetes associated with 3243 bp tRNA(Leu(UUR)) mutation with few complications, regardless of 16-year disease duration.
    Suzuki Y, Atumi Y, Matsuoka K, Taniyama M, Shigeo O.
    Diabetes Res Clin Pract; 2005 Sep 22; 69(3):309-10. PubMed ID: 15913828
    [No Abstract] [Full Text] [Related]

  • 14. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
    Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA.
    Hum Mol Genet; 1996 Nov 22; 5(11):1835-40. PubMed ID: 8923013
    [Abstract] [Full Text] [Related]

  • 15. Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene.
    Goldstein JD, Shanske S, Bruno C, Perszyk AA.
    Pediatr Dev Pathol; 1999 Nov 22; 2(1):78-85. PubMed ID: 9841711
    [Abstract] [Full Text] [Related]

  • 16. Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.
    Lien LM, Lee HC, Wang KL, Chiu JC, Chiu HC, Wei YH.
    Acta Neurol Scand; 2001 Mar 22; 103(3):159-65. PubMed ID: 11240563
    [Abstract] [Full Text] [Related]

  • 17. Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.
    Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t' Hart LM, Smeets HJ, Bruijn JA, Lemkes HH.
    J Am Soc Nephrol; 1997 Jul 22; 8(7):1118-24. PubMed ID: 9219161
    [Abstract] [Full Text] [Related]

  • 18. MtDNA mutations in maternally inherited diabetes: presence of the 3397 ND1 mutation previously associated with Alzheimer's and Parkinson's disease.
    Cavelier L, Erikson I, Tammi M, Jalonen P, Lindholm E, Jazin E, Smith P, Luthman H, Gyllensten U.
    Hereditas; 2001 Jul 22; 135(1):65-70. PubMed ID: 12035616
    [Abstract] [Full Text] [Related]

  • 19. Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene.
    Yamasoba T, Oka Y, Tsukuda K, Nakamura M, Kaga K.
    Laryngoscope; 1996 Jan 22; 106(1 Pt 1):49-53. PubMed ID: 8544627
    [Abstract] [Full Text] [Related]

  • 20. [Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients].
    Biarnésa J, Rojas I, Fernández-Castañer M, Nunes V, Gómez M, Ricart W.
    Med Clin (Barc); 2001 Mar 03; 116(8):292-3. PubMed ID: 11333748
    [Abstract] [Full Text] [Related]

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