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Items: 1 to 20 of 159

1.

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;40(2):93-103. Review.

PMID:
21453644
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.

PMID:
7910800
3.

[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;141(3):305-12. doi: 10.4067/S0034-98872013000300004. Spanish.

4.

The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.

Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, Vialettes B, Gin H, Timsit J, Bauduceau B, Bernard L, Bertin E, Blickle JF, Cahen-Varsaux J, Cailleba A, Casanova S, Cathebras P, Charpentier G, Chedin P, Crea T, Delemer B, Dubois-Laforgue D, Duchemin F, Ducluzeau PH, Bouhanick B, Dusselier L, Gabreau T, Grimaldi A, Guerci B, Jacquin V, Kaloustian E, Larger E, Lecleire-Collet A, Lorenzini F, Louis J, Mausset J, Murat A, Nadler-Fluteau S, Olivier F, Paquis-Flucklinger V, Paris-Bockel D, Raynaud I, Reznik Y, Riveline JP, Schneebeli S, Sonnet E, Sola-Gazagnes A, Thomas JL, Trabulsi B, Virally M, Guillausseau PJ; Mitochondrial Diabetes French Study Group.

J Clin Endocrinol Metab. 2009 Aug;94(8):3025-30. doi: 10.1210/jc.2008-2680. Epub 2009 May 26.

PMID:
19470619
5.

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;10(6):381-9.

PMID:
17154655
6.

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
7.

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;27(6):802-8.

PMID:
16788417
8.

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
9.

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.

10.

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.

11.

Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation.

Yamasoba T, Tsukuda K, Oka Y, Kobayashi T, Kaga K.

Neurology. 1999 May 12;52(8):1705-7.

PMID:
10331707
12.

[Diabetes mellitus associated with the mitochondrial mutation A3243G: frequency and clinical presentation].

Salles JE, Kalinin LB, Ferreira SR, Kasamatsu T, Moisés RS.

Arq Bras Endocrinol Metabol. 2007 Jun;51(4):559-65. Portuguese.

13.

Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome.

Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T.

Laryngoscope. 1996 Jan;106(1 Pt 1):43-8.

PMID:
8544626
14.

Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA.

Sawada S, Takeda T, Kakigi A, Saito H, Suehiro T, Nakauchi Y, Chikamori K.

Am J Otol. 1997 May;18(3):332-5.

PMID:
9149827
15.

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;8(7):1118-24.

16.

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;74(10):455-457.

17.

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;115(1):71-4. doi: 10.1159/000252811. Epub 2009 Oct 27.

PMID:
19864902
18.

Mitochondrial 3243 BP mutation: a case report.

Rigoli L, Caruso RA, Zuccarello D, Rigoli M, Barberi I.

Diabetes Nutr Metab. 2001 Dec;14(6):343-8.

PMID:
11853367
20.

[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. Czech.

PMID:
9748738

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