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Publications by Aldo Giannotti

Maternally Inherited Deafness Associated With a T1095C Mutation in the mDNA

European Journal of Human Genetics
Genetics
2001English

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Cystoid Macular Changes on Optical Coherence Tomography in a Patient With Maternally Inherited Diabetes and Deafness (MIDD)-associated Macular Dystrophy

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Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Hearing Loss Is Associated With the 12S rRNA C1494T Mutation in Three Han Chinese Pedigrees

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DNA Mutation Motifs in the Genes Associated With Inherited Diseases

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Phenotypic Expression of Maternally Inherited Deafness Is Affected by RNA Modification and Cytoplasmic Ribosomal Proteins

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Functional and Morphological Abnormalities of Mitochondria Harbouring the tRNA Leu(UUR) Mutation in Mitochondrial DNA Derived From Patients With Maternally Inherited Diabetes and Deafness (MIDD) and Progressive Kidney Disease

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Modifier Locus for Mitochondrial DNA Disease: Linkage and Linkage Disequilibrium Mapping of a Nuclear Modifier Gene for Maternally Inherited Deafness

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Maternally Inherited Duplication of the Possible Imprinted 14q31 Region

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The Mitochondrial Transfer RNAAsp A7551G Mutation May Contribute to the Clinical Expression of Deafness Associated With the A1555G Mutation in a Pedigree With Hearing Impairment

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Sp2 Is a Maternally Inherited Transcription Factor Required for Embryonic Development

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