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Items: 1 to 20 of 26


Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients.

Zhang Y, Du X, Geng X, Chu C, Lu H, Shen Y, Chen R, Fang P, Feng Y, Zhang X, Chen Y, Zhou Y, Wang C, Jia W.

J Diabetes Res. 2017;2017:4683857. doi: 10.1155/2017/4683857. Epub 2017 Jun 21.


A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.

Wang M, Liu H, Zheng J, Chen B, Zhou M, Fan W, Wang H, Liang X, Zhou X, Eriani G, Jiang P, Guan MX.

J Biol Chem. 2016 Sep 30;291(40):21029-21041. Epub 2016 Aug 12.


Monogenic diabetes and pregnancy.

Murphy R.

Obstet Med. 2015 Sep;8(3):114-20. doi: 10.1177/1753495X15590713. Epub 2015 Jun 29. Review.


When to consider a diagnosis of MODY at the presentation of diabetes: aetiology matters for correct management.

Juszczak A, Pryse R, Schuman A, Owen KR.

Br J Gen Pract. 2016 Jun;66(647):e457-9. doi: 10.3399/bjgp16X685537. No abstract available.


Searching for "monogenic diabetes" in dogs using a candidate gene approach.

Short AD, Holder A, Rothwell S, Massey J, Scholey R, Kennedy LJ, Catchpole B, Ollier WE.

Canine Genet Epidemiol. 2014 Jul 7;1:8. doi: 10.1186/2052-6687-1-8. eCollection 2014.


Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report.

Imamura T, Konno S, Inoue M, Murata M, Nakazora H, Sugimoto H, Fujioka T.

Clin Case Rep. 2015 Jul;3(7):656-9. doi: 10.1002/ccr3.309. Epub 2015 Jun 11.


Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17.


Truth is a daughter of time: a case of MELAS diagnosed 25 years after initial manifestation.

Windpessl M, Müller P, Wallner M.

Oxf Med Case Reports. 2014 May 8;2014(2):24-5. doi: 10.1093/omcr/omu010. eCollection 2014 May.


Genetics of type 2 diabetes-pitfalls and possibilities.

Prasad RB, Groop L.

Genes (Basel). 2015 Mar 12;6(1):87-123. doi: 10.3390/genes6010087. Review.


Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D.

Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28.


Mitochondrial metabolism and diabetes.

Kwak SH, Park KS, Lee KU, Lee HK.

J Diabetes Investig. 2010 Oct 19;1(5):161-9. doi: 10.1111/j.2040-1124.2010.00047.x. Review.


Monogenic diabetes: a diagnostic algorithm for clinicians.

Carroll RW, Murphy R.

Genes (Basel). 2013 Sep 26;4(4):522-35. doi: 10.3390/genes4040522.


Endocrine disorders in mitochondrial disease.

Schaefer AM, Walker M, Turnbull DM, Taylor RW.

Mol Cell Endocrinol. 2013 Oct 15;379(1-2):2-11. doi: 10.1016/j.mce.2013.06.004. Epub 2013 Jun 13. Review.


Pathogenesis of the metabolic syndrome: insights from monogenic disorders.

Murphy R, Carroll RW, Krebs JD.

Mediators Inflamm. 2013;2013:920214. doi: 10.1155/2013/920214. Epub 2013 May 21. Review.


The clinical utility of C-peptide measurement in the care of patients with diabetes.

Jones AG, Hattersley AT.

Diabet Med. 2013 Jul;30(7):803-17. doi: 10.1111/dme.12159. Review.


Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Raap AK, Jahangir Tafrechi RS, van de Rijke FM, Pyle A, Wählby C, Szuhai K, Ravelli RB, de Coo RF, Rajasimha HK, Nilsson M, Chinnery PF, Samuels DC, Janssen GM.

PLoS One. 2012;7(12):e52080. doi: 10.1371/journal.pone.0052080. Epub 2012 Dec 18.


Vacant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy and diabetes mellitus.

Kato T, Hirose S, Nohara R.

BMJ Case Rep. 2012 Aug 8;2012. pii: bcr2012006645. doi: 10.1136/bcr-2012-006645. No abstract available.


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.


A family with diabetes and heart failure.

Gerber B, Manser C, Wiesli P, Meier CA.

BMJ Case Rep. 2010 Oct 18;2010. pii: bcr0120102613. doi: 10.1136/bcr.01.2010.2613.


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.

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