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Journal Abstract Search

399 related items for PubMed ID: 23357420

  • 1. 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
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  • 2. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
    Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F.
    Biochem Biophys Res Commun; 2011 Jul 29; 411(2):247-52. PubMed ID: 21723259
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  • 3. Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.
    Mkaouar-Rebai E, Chamkha I, Mezghani N, Ben Ayed I, Fakhfakh F.
    Mitochondrial DNA; 2013 Jun 29; 24(3):163-78. PubMed ID: 23301511
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  • 4. 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
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  • 5. [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 10; 141(3):305-12. PubMed ID: 23900320
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  • 6. [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
    Li W, Han D, Yuan H, Wang Y, Cao J, Yang W, Jiang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec 10; 18(6):415-20. PubMed ID: 11774206
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  • 7. 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 10; 42(4):485-92. PubMed ID: 10230654
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  • 8. Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy?
    Holmes-Walker DJ, Mitchell P, Boyages SC.
    Diabet Med; 1998 Nov 10; 15(11):946-52. PubMed ID: 9827849
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  • 10. 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
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  • 12. Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA.
    Azevedo O, Vilarinho L, Almeida F, Ferreira F, Guardado J, Ferreira M, Lourenço A, Medeiros R, Almeida J.
    Cardiology; 2010 Jun 10; 115(1):71-4. PubMed ID: 19864902
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  • 13. A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria.
    Adema AY, Janssen MC, van der Heijden JW.
    Neth J Med; 2016 Dec 10; 74(10):455-457. PubMed ID: 27966441
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  • 15. 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 10; 43(6):746-51. PubMed ID: 7910800
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  • 18. Ptosis as an associated finding in maternally inherited diabetes and deafness.
    Robberecht K, Decock C, Stevens A, Seneca S, De Bleecker J, Leroy BP.
    Ophthalmic Genet; 2010 Dec 10; 31(4):240-3. PubMed ID: 21067488
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  • 19. 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 Dec 10; 2019():5184647. PubMed ID: 31143779
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  • 20. Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families.
    Wu CC, Chiu YH, Chen PJ, Hsu CJ.
    Ear Hear; 2007 Jun 10; 28(3):332-42. PubMed ID: 17485982
    [Abstract] [Full Text] [Related]

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