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Quoted phrase not found in phrase index: "Diabetes-deafness syndrome maternally transmitted"
Page 1
Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters.
Müller PL, Treis T, Pfau M, Esposti SD, Alsaedi A, Maloca P, Balaskas K, Webster A, Egan C, Tufail A. Müller PL, et al. Am J Ophthalmol. 2020 May;213:134-144. doi: 10.1016/j.ajo.2020.01.013. Epub 2020 Jan 24. Am J Ophthalmol. 2020. PMID: 31987901
The fovea was preserved in the majority of patients during the observation time. In the case of foveal involvement, the loss of visual acuity lagged behind central RPE atrophy in AF images. Sex, age, and number of atrophic foci predicted future progression rates wit …
The fovea was preserved in the majority of patients during the observation time. In the case of foveal involvement, the loss of visua …
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. Sugai K, et al. BMC Nephrol. 2018 Dec 10;19(1):350. doi: 10.1186/s12882-018-1152-6. BMC Nephrol. 2018. PMID: 30526529 Free PMC article.
Granular swollen epithelial cells (GSECs), characterised by abnormal mitochondria, were observed among the tubules and collecting ducts in both biopsy specimens. ...
Granular swollen epithelial cells (GSECs), characterised by abnormal mitochondria, were observed among the tubules and collecting duc …
Role of molecular genetics in transforming diagnosis of diabetes mellitus.
Molven A, Njølstad PR. Molven A, et al. Expert Rev Mol Diagn. 2011 Apr;11(3):313-20. doi: 10.1586/erm.10.123. Expert Rev Mol Diagn. 2011. PMID: 21463240 Review.
The finding of a mutation in monogenic diabetes may have implications for the prediction of prognosis and choice of treatment. Mutations in the GCK gene cause a mild form of diabetes, which seldom needs insulin and has a low risk for complications. ...
The finding of a mutation in monogenic diabetes may have implications for the prediction of prognosis and choice of treatment. Mutati …
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.
Oishi N, Kubota D, Nakamoto K, Takeda Y, Hayashi M, Gocho K, Yamaki K, Igarashi T, Takahashi H, Kameya S. Oishi N, et al. Ophthalmic Genet. 2021 Jun;42(3):304-311. doi: 10.1080/13816810.2021.1881978. Epub 2021 Feb 5. Ophthalmic Genet. 2021. PMID: 33541179
The results of high-resolution retinal imaging by AO revealed that the densities of the cone photoreceptor were significantly reduced in the fovea where no obvious atrophy of the RPE and choroid was observed.Conclusions: Our findings indicate that WES analysis can be used …
The results of high-resolution retinal imaging by AO revealed that the densities of the cone photoreceptor were significantly reduced in the …
Structural Features Associated With the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness.
Müller PL, Maloca P, Webster A, Egan C, Tufail A. Müller PL, et al. Am J Ophthalmol. 2020 Oct;218:136-147. doi: 10.1016/j.ajo.2020.05.023. Epub 2020 May 22. Am J Ophthalmol. 2020. PMID: 32446735
PURPOSE: To investigate the development and progression of retinal pigment epithelial and outer retinal atrophy (RORA) secondary to maternally inherited diabetes and deafness (MIDD). DESIGN: Retrospective observational case series. METHODS: Thirty-six eyes of 18 patients ( …
PURPOSE: To investigate the development and progression of retinal pigment epithelial and outer retinal atrophy (RORA) secondary to maternal …
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.
Oh JK, Lima de Carvalho JR Jr, Nuzbrokh Y, Ryu J, Chemudupati T, Mahajan VB, Sparrow JR, Tsang SH. Oh JK, et al. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):12. doi: 10.1167/iovs.61.12.12. Invest Ophthalmol Vis Sci. 2020. PMID: 33049060 Free PMC article.
Nascent outer retinal tubulations corresponding with faint foci of autofluorescence were observed in two patients with MIDD. Characteristic features of this cohort included a foveal sparing phenotype observed in 13 of 18 eyes (72%), global absence of intraretinal pi …
Nascent outer retinal tubulations corresponding with faint foci of autofluorescence were observed in two patients with MIDD. Characte …
Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations.
Yang L, Guo Q, Leng J, Wang K, Ding Y. Yang L, et al. J Clin Lab Anal. 2022 Jan;36(1):e24102. doi: 10.1002/jcla.24102. Epub 2021 Nov 22. J Clin Lab Anal. 2022. PMID: 34811812 Free PMC article.
PCR and sequence analysis are carried out to detect mtDNA variants in affected family members, in addition, phylogenetic conservation analysis, haplogroup classification, and pathogenicity scoring system are performed. Moreover, the GJB2, GJB3, GJB6, and TRMU genes …
PCR and sequence analysis are carried out to detect mtDNA variants in affected family members, in addition, phylogenetic conservation analys …
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. Tabebi M, et al. J Diabetes Complications. 2017 Jan;31(1):253-259. doi: 10.1016/j.jdiacomp.2016.06.028. Epub 2016 Jul 1. J Diabetes Complications. 2017. PMID: 27422531
The coexistence of these two mutations could explain the retinopathy observed in this patient....
The coexistence of these two mutations could explain the retinopathy observed in this patient....
Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.
Hendrix CLF, van den Heuvel FMA, Rodwell L, Timmermans J, Nijveldt R, Janssen MCH, Saris CGJ. Hendrix CLF, et al. Mol Genet Metab. 2022 Jul;136(3):219-225. doi: 10.1016/j.ymgme.2022.05.004. Epub 2022 May 28. Mol Genet Metab. 2022. PMID: 35659503 Free article.
MD patients with a high disease severity (NMDAS 21) had a higher prevalence of ECG abnormalities (44%, p = 0.039) and structural cardiac abnormalities (72%, p = 0.004) compared to patients with a NMDAS score of 11-20 and 10 (ECG: 34% and 19%; TTE: 63% and 39%). ECG abnorma …
MD patients with a high disease severity (NMDAS 21) had a higher prevalence of ECG abnormalities (44%, p = 0.039) and structural cardiac abn …
20 results