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PUBMED FOR HANDHELDS

Journal Abstract Search


204 related items for PubMed ID: 33541179

  • 21. A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
    Bannwarth S, Abbassi M, Valéro R, Fragaki K, Dubois N, Vialettes B, Paquis-Flucklinger V.
    Diabetes Care; 2011 Dec; 34(12):2591-3. PubMed ID: 21994425
    [Abstract] [Full Text] [Related]

  • 22. Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
    Vaclavik V, Navarro A, Jacot-Guillarmod A, Bottani A, Sun YJ, Franco JA, Mahajan VB, Smirnov V, Bouvet-Drumare I.
    Graefes Arch Clin Exp Ophthalmol; 2024 Jun; 262(6):1737-1744. PubMed ID: 38206414
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. 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; 106(6):1101-8. PubMed ID: 10366077
    [Abstract] [Full Text] [Related]

  • 25. Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism.
    Mory PB, Santos MC, Kater CE, Moisés RS.
    Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):574-7. PubMed ID: 23295301
    [Abstract] [Full Text] [Related]

  • 26. 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 Nov; 12():728043. PubMed ID: 34899594
    [Abstract] [Full Text] [Related]

  • 27. Maternally inherited diabetes and deafness (MIDD): diagnosis and management.
    Naing A, Kenchaiah M, Krishnan B, Mir F, Charnley A, Egan C, Bano G.
    J Diabetes Complications; 2014 Nov; 28(4):542-6. PubMed ID: 24746802
    [Abstract] [Full Text] [Related]

  • 28. Maternally inherited diabetes and deafness complicated by mesangial galactose-deficient IgA1 deposits: a case report.
    Sugai K, Ueda H, Morimoto K, Tanaka M, Takahashi D, Nakashima A, Kato J, Takahashi H, Yamaguchi Y, Kawamura T, Hanaoka K, Miyazaki Y, Yokoo T.
    BMC Nephrol; 2018 Dec 10; 19(1):350. PubMed ID: 30526529
    [Abstract] [Full Text] [Related]

  • 29. Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.
    Chwiejczak K, Byles D, Gerry P, Von Lany H, Tasiopoulou A, Hattersley A.
    GMS Ophthalmol Cases; 2023 Dec 10; 13():Doc23. PubMed ID: 38111473
    [Abstract] [Full Text] [Related]

  • 30. Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
    Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E.
    Ophthalmic Res; 2020 Dec 10; 63(2):141-151. PubMed ID: 31927556
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. 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 Feb 22; 18():231-244. PubMed ID: 29868447
    [Abstract] [Full Text] [Related]

  • 33. Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
    Tabebi M, Charfi N, Kallabi F, Alila-Fersi O, Ben Mahmoud A, Tlili A, Keskes-Ammar L, Kamoun H, Abid M, Mnif M, Fakhfakh F.
    J Diabetes Complications; 2017 Jan 22; 31(1):253-259. PubMed ID: 27422531
    [Abstract] [Full Text] [Related]

  • 34. 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 08; 103(10):e37447. PubMed ID: 38457558
    [Abstract] [Full Text] [Related]

  • 35. 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 08; 31(4):240-3. PubMed ID: 21067488
    [Abstract] [Full Text] [Related]

  • 36. The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.
    Zhu J, Yang P, Liu X, Yan L, Rampersad S, Li F, Li H, Sheng C, Cheng X, Zhang M, Qu S.
    J Diabetes Complications; 2017 Aug 08; 31(8):1354-1359. PubMed ID: 28599824
    [Abstract] [Full Text] [Related]

  • 37. 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 08; 35(6):1059-69. PubMed ID: 22403016
    [Abstract] [Full Text] [Related]

  • 38. Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.
    Tsang SH, Aycinena ARP, Sharma T.
    Adv Exp Med Biol; 2018 Nov 08; 1085():163-165. PubMed ID: 30578504
    [Abstract] [Full Text] [Related]

  • 39. New insights into Stargardt disease with multimodal imaging.
    Pang CE, Suqin Y, Sherman J, Freund KB.
    Ophthalmic Surg Lasers Imaging Retina; 2015 Feb 08; 46(2):257-61. PubMed ID: 25707054
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  • 40. Mitochondrial diabetes and deafness: possible dysfunction of strial marginal cells of the inner ear.
    Olmos PR, Borzone GR, Olmos JP, Diez A, Santos JL, Serrano V, Cataldo LR, Anabalón JL, Correa CH.
    J Otolaryngol Head Neck Surg; 2011 Apr 08; 40(2):93-103. PubMed ID: 21453644
    [Abstract] [Full Text] [Related]


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