(Q46902442)

English

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

scientific article published in February 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

1 reference

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1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Xavier Estivill i Pallejà

7

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

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Rafael de Cid

3

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author name string

Nancy Govea

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Cecilia Garcia

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Carles Arribas

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Jordi Rosell

6

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

publication date

1 February 2008

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

29

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Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

248-257

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

1 reference

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Sequence and organization of the human mitochondrial genome

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Mitochondrial sequence analysis for forensic identification using pyrosequencing technology

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Polymorphic variants in the human mitochondrial cytochrome b gene

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Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

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Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

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MITOMAP: a human mitochondrial genome database--2004 update

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7 January 2021

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

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Candidate locus for a nuclear modifier gene for maternally inherited deafness

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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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Mitochondrial DNA mutations in the pathogenesis of human disease

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7 January 2021

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

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7 January 2021

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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

1 reference

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7 January 2021

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

1 reference

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7 January 2021

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Mitochondrial DNA mutations in human disease.

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

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

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7 January 2021

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Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms

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Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity.

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Effects of mutations in mitochondrial cytochrome b in yeast and man. Deficiency, compensation and disease.

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7 January 2021

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A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

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Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

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https://api.crossref.org/works/10.1002%2FHUMU.20639

7 January 2021

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Molecular pathogenetic mechanism of maternally inherited deafness

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7 January 2021

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Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

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7 January 2021

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A molecular basis for human hypersensitivity to aminoglycoside antibiotics

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7 January 2021

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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

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Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling

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Functional characterization of novel mutations in the human cytochrome b gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20639

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Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

1 reference

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7 January 2021

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A high observed substitution rate in the human mitochondrial DNA control region

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Mitochondrial genetics '98 is the bottleneck cracked?

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

1 reference

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Paternal inheritance of mitochondrial DNA

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Inter- and intragenerational transmission of a human mitochondrial DNA heteroplasmy among 13 maternally-related individuals and differences between and within tissues in two family members.

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Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment

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Diseases of the mitochondrial DNA.

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Mitochondrial diseases in man and mouse

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Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

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Optimized PCR fragments for heteroduplex analysis of the whole human mitochondrial genome with denaturing HPLC

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Identifiers

10.1002/HUMU.20639

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/17999439

ResearchGate publication ID

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