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Maternally Inherited Diabetes and Deafness is Phenotypically and Genotypically Heterogeneous.

作者信息

Finsterer Josef, Frank Marlies

机构信息

Hospital Rudolfstiftung, Vienna, Austria First Medical Department, Hospital Rudolfstiftung, Vienna, Austria.

出版信息

J Neuroophthalmol. 2016 Sep;36(3):346-7. doi: 10.1097/WNO.0000000000000387.

DOI:10.1097/WNO.0000000000000387
PMID:27286552
Abstract
摘要

相似文献

1
Maternally Inherited Diabetes and Deafness is Phenotypically and Genotypically Heterogeneous.
J Neuroophthalmol. 2016 Sep;36(3):346-7. doi: 10.1097/WNO.0000000000000387.
2
Maternally Inherited Diabetes and Deafness Is Phenotypically and Genotypically Heterogeneous: Response.母系遗传的糖尿病和耳聋在表型和基因型上具有异质性:回应。
J Neuroophthalmol. 2016 Sep;36(3):344-6. doi: 10.1097/WNO.0000000000000386.
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Letter to the Editor: Maternally Inherited Diabetes and Deafness is Not Only Biorgan but Multiorgan.
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Reply to Letter to the Editor "Maternally inherited diabetes and deafness is a mitochondrial multiorgan disorder syndrome (MIMODS)".
Acta Diabetol. 2017 Oct;54(10):981-982. doi: 10.1007/s00592-017-1030-x. Epub 2017 Aug 1.
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Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.线粒体DNA突变A3243G导致的家族表型异质性
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[OCT-Angiography analysis in a case of maternally inherited diabetes and deafness].
J Fr Ophtalmol. 2021 Nov;44(9):e543-e546. doi: 10.1016/j.jfo.2020.12.022. Epub 2021 Jul 3.
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Maternally inherited diabetes and deafness is a mitochondrial multiorgan disorder syndrome (MIMODS).母系遗传糖尿病和耳聋是一种线粒体多器官功能障碍综合征(MIMODS)。
Acta Diabetol. 2017 Oct;54(10):979-980. doi: 10.1007/s00592-017-1029-3. Epub 2017 Jul 29.
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Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome.线粒体变异在母系遗传糖尿病和耳聋综合征中的作用。
J Laryngol Otol. 2008 Nov;122(11):1249-52. doi: 10.1017/S0022215108001503.
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Variants m.13276G>A in the MT-ND5 and m.8241T>G in the MT-CO2 gene are not responsible for maternally inherited diabetes and deafness.MT-ND5基因中的m.13276G>A变异和MT-CO2基因中的m.8241T>G变异与母系遗传的糖尿病和耳聋无关。
J Diabetes Complications. 2017 Nov;31(11):1638. doi: 10.1016/j.jdiacomp.2017.08.002. Epub 2017 Aug 4.
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Commentary: Heteroplasmy in maternally inherited diabetes and deafness.评论:母系遗传的糖尿病和耳聋中的异质性。
Indian J Ophthalmol. 2020 Jan;68(1):253. doi: 10.4103/ijo.IJO_1296_19.

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The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.母系遗传的糖尿病和耳聋中的冰山一角
Oman Med J. 2018 Sep;33(5):437-440. doi: 10.5001/omj.2018.80.
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A New Approach to Treating Neurodegenerative Otologic Disorders.治疗神经退行性耳科疾病的新方法。
Biores Open Access. 2018 Jul 1;7(1):107-115. doi: 10.1089/biores.2018.0017. eCollection 2018.