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Journal Abstract Search

304 related items for PubMed ID: 1301992

  • 1. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.
    Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC.
    Nat Genet; 1992 Apr; 1(1):11-5. PubMed ID: 1301992
    [Abstract] [Full Text] [Related]

  • 2. A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.
    Chen FL, Liu Y, Song XY, Hu HY, Xu HB, Zhang XM, Shi JH, Hu J, Shen Y, Lu B, Wang XC, Hu RM.
    Mutat Res; 2006 Dec 01; 602(1-2):26-33. PubMed ID: 16949108
    [Abstract] [Full Text] [Related]

  • 3. Mitochondrial diabetes mellitus.
    Rötig A, Bonnefont JP, Munnich A.
    Diabetes Metab; 1996 Oct 01; 22(5):291-8. PubMed ID: 8896989
    [Abstract] [Full Text] [Related]

  • 4. [Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case].
    Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J.
    Med Clin (Barc); 1999 Jan 30; 112(3):99-101. PubMed ID: 10074618
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
    Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F.
    Biochem Biophys Res Commun; 2015 Apr 10; 459(3):353-60. PubMed ID: 25701779
    [Abstract] [Full Text] [Related]

  • 6. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
    Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J.
    Chin Med J (Engl); 2000 Feb 10; 113(2):111-6. PubMed ID: 11775531
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 106(6):1101-8. PubMed ID: 10366077
    [Abstract] [Full Text] [Related]

  • 8. Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.
    Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H, Ohsawa N.
    Biochem Biophys Res Commun; 1998 Apr 17; 245(2):523-7. PubMed ID: 9571188
    [Abstract] [Full Text] [Related]

  • 9. [A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)].
    Maassen JA, Jansen JJ, van den Ouweland JM, Hart LM, van Essen EH, Lemkes HH.
    Ned Tijdschr Geneeskd; 1998 Jan 31; 142(5):229-33. PubMed ID: 9557035
    [Abstract] [Full Text] [Related]

  • 10. Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA.
    Maassen JA, van den Ouweland JM, t Hart LM, Lemkes HH.
    Horm Metab Res; 1997 Feb 31; 29(2):50-5. PubMed ID: 9105898
    [Abstract] [Full Text] [Related]

  • 11. Mitochondrial 3243 BP mutation: a case report.
    Rigoli L, Caruso RA, Zuccarello D, Rigoli M, Barberi I.
    Diabetes Nutr Metab; 2001 Dec 31; 14(6):343-8. PubMed ID: 11853367
    [Abstract] [Full Text] [Related]

  • 12. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
    Olsson C, Zethelius B, Lagerström-Fermér M, Asplund J, Berne C, Landegren U.
    Hum Mutat; 1998 Dec 31; 12(1):52-8. PubMed ID: 9633820
    [Abstract] [Full Text] [Related]

  • 13. Maternally inherited deafness associated with a T1095C mutation in the mDNA.
    Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM.
    Eur J Hum Genet; 2001 Feb 31; 9(2):147-9. PubMed ID: 11313749
    [Abstract] [Full Text] [Related]

  • 14. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
    Reid FM, Vernham GA, Jacobs HT.
    Hum Mutat; 1994 Feb 31; 3(3):243-7. PubMed ID: 8019558
    [Abstract] [Full Text] [Related]

  • 15. [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
    Stratilová L, Zeman J, Hansíková H, Houstĕk J, Hermanská J, Dudková Z, Konrádová V, Hůlková H, Elleder M.
    Cas Lek Cesk; 1998 Jul 13; 137(14):430-3. PubMed ID: 9748738
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome.
    Perucca-Lostanlen D, Narbonne H, Hernandez JB, Staccini P, Saunieres A, Paquis-Flucklinger V, Vialettes B, Desnuelle C.
    Biochem Biophys Res Commun; 2000 Nov 02; 277(3):771-5. PubMed ID: 11062027
    [Abstract] [Full Text] [Related]

  • 18. Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.
    Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RF.
    Eur J Hum Genet; 2001 Jan 02; 9(1):56-8. PubMed ID: 11175301
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 27(6):802-8. PubMed ID: 16788417
    [Abstract] [Full Text] [Related]

  • 20. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
    Mizunuma M, Fujimori S, Ogino H, Ueno T, Inoue H, Kamatani N.
    Hum Mutat; 2001 Nov 02; 18(5):435-43. PubMed ID: 11668636
    [Abstract] [Full Text] [Related]

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