(Q33975212)

30 July 2017

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title

Maternally inherited hearing impairment (English)

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30 July 2017

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Van Camp G

1

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30 July 2017

Smith RJ

series ordinal

2

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30 July 2017

publication date

1 June 2000

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30 July 2017

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30 July 2017

volume

57

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30 July 2017

issue

6

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30 July 2017

page(s)

409-414

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Cloning genes for non-syndromal hearing impairment.

30 July 2017

cites work

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

21 January 2018

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A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

21 January 2018

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Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

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Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.

21 January 2018

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Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

21 January 2018

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Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

21 January 2018

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A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

21 January 2018

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Mitochondrial mutation associated with nonsyndromic deafness

21 January 2018

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Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

21 January 2018

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The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

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Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

21 January 2018

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A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

21 January 2018

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Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

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Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

21 January 2018

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Maternally inherited nonsyndromic hearing loss.

21 January 2018

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Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

21 January 2018

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

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Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 January 2018

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population

21 January 2018

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7 January 2021

Molecular Phenotype of the np 7472 Deafness-Associated Mitochondrial Mutation in Osteosarcoma Cell Cybrids

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7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570601.X

7 January 2021

Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570601.X

7 January 2021

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570601.X

7 January 2021

10.1034/J.1399-0004.2000.570601.X

Identifiers

DOI

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30 July 2017

1 reference