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Items: 1 to 20 of 36

1.

Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness.

Finsterer J, Frank M, Mishra A.

Int J Clin Exp Pathol. 2015 Nov 1;8(11):15439-41. eCollection 2015 Nov 1. No abstract available.

2.

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.

Reinauer C, Meissner T, Roden M, Thon A, Holterhus PM, Haberland H, Binder E, Marg W, Bollow E, Holl R.

Eur J Pediatr. 2016 May;175(5):613-22. doi: 10.1007/s00431-015-2675-5. Epub 2015 Dec 15.

PMID:
26670026
3.

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. doi: 10.1016/j.mito.2015.10.005. Epub 2015 Oct 9.

PMID:
26455484
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. doi: 10.1016/j.bbrc.2015.01.151. Epub 2015 Feb 19.

PMID:
25701779
5.

Pyrosequencing is an accurate and reliable method for the analysis of heteroplasmy of the A3243G mutation in patients with mitochondrial diabetes.

Yan JB, Zhang R, Xiong C, Hu C, Lv Y, Wang CR, Jia WP, Zeng F.

J Mol Diagn. 2014 Jul;16(4):431-9. doi: 10.1016/j.jmoldx.2014.03.005. Epub 2014 May 5. Erratum in: J Mol Diagn. 2014 Sep;16(5):591.

PMID:
24803323
6.

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 Jul-Aug;28(4):542-6. doi: 10.1016/j.jdiacomp.2014.03.006. Epub 2014 Mar 12.

PMID:
24746802
7.

A review of maternally inherited diabetes and deafness.

Li HZ, Li RY, Li M.

Front Biosci (Landmark Ed). 2014 Jan 1;19:777-82. Review.

PMID:
24389221
8.

Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis.

Cao XY, Wei RB, Wang YD, Zhang XG, Tang L, Chen XM.

Indian J Pathol Microbiol. 2013 Jul-Sep;56(3):272-5. doi: 10.4103/0377-4929.120392.

9.

Visual function and risk genotypes in maternally inherited diabetes and deafness.

Feigl B, Morris CP.

Can J Ophthalmol. 2013 Oct;48(5):e111-4. doi: 10.1016/j.jcjo.2013.02.013. No abstract available.

PMID:
24093199
10.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JA, Shepherd M, Hattersley AT, Weedon MN, Caswell R.

Diabetologia. 2013 Sep;56(9):1958-63. doi: 10.1007/s00125-013-2962-5. Epub 2013 Jun 15.

11.

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. doi: 10.1016/j.bbrc.2013.01.063. Epub 2013 Jan 26.

PMID:
23357420
12.

Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy.

Raja MS, Goldsmith C, Burton BJ.

Graefes Arch Clin Exp Ophthalmol. 2013 Sep;251(9):2265-7. doi: 10.1007/s00417-012-2217-z. Epub 2013 Jan 12. No abstract available.

PMID:
23314478
13.

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.

15.

Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.

Ogun O, Sheldon C, Barton JJ.

Neurology. 2012 Aug 7;79(6):e54-6. doi: 10.1212/WNL.0b013e31826356ad. No abstract available.

16.

Mitochondrial diabetes in children: seek and you will find it.

Mazzaccara C, Iafusco D, Liguori R, Ferrigno M, Galderisi A, Vitale D, Simonelli F, Landolfo P, Prisco F, Masullo M, Sacchetti L.

PLoS One. 2012;7(4):e34956. doi: 10.1371/journal.pone.0034956. Epub 2012 Apr 19.

17.

Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.

Martikainen MH, Rönnemaa T, Majamaa K.

Acta Diabetol. 2013 Oct;50(5):737-41. doi: 10.1007/s00592-012-0393-2. Epub 2012 Apr 11.

PMID:
22492248
18.

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. doi: 10.1007/s10545-012-9465-2. Epub 2012 Mar 9. Erratum in: J Inherit Metab Dis. 2012 Nov;35(6):1155-6.

19.

Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient.

Strauss DS, Freund KB.

Br J Ophthalmol. 2012 Apr;96(4):604. doi: 10.1136/bjophthalmol-2011-300004. Epub 2011 Mar 28. No abstract available.

PMID:
22049499
20.

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. doi: 10.2337/dc11-1012. Epub 2011 Oct 12.

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