Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, PJ Willems, RJ Smith - American journal of human …, 1997 - ncbi.nlm.nih.gov
The Past Prior to 1994, only three loci for nonsyndromic hearing impairment (NSHI) had
been identified. In the late 1980s, a sex-linked form of NSHI was mapped to Xql3-q21. 1 in …
been identified. In the late 1980s, a sex-linked form of NSHI was mapped to Xql3-q21. 1 in …
Mitochondrial DNA mutations and pathogenesis
EA Schon, E Bonilla, S DiMauro - Journal of bioenergetics and …, 1997 - Springer
Approximately three years ago, this journal published a review on the clinical and molecular
analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial …
analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial …
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
X Estivill, N Govea, A Barceló, E Perelló… - The American Journal of …, 1998 - cell.com
Hearing loss involves both genetic and environmental factors. A mutation (A1555G) in the
mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural …
mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural …
[HTML][HTML] Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene …
H Zhao, R Li, Q Wang, Q Yan, JH Deng, D Han… - The American Journal of …, 2004 - cell.com
We report here the characterization of a large Chinese family with maternally transmitted
aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides …
aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides …
Clinical spectrum and diagnosis of mitochondrial disorders
A Munnich, P Rustin - American journal of medical genetics, 2001 - Wiley Online Library
Respiratory chain deficiencies have long been regarded as neuromuscular diseases mostly
originating from mutations in the mitochondrial DNA. Actually, oxidative phosphorylation, ie …
originating from mutations in the mitochondrial DNA. Actually, oxidative phosphorylation, ie …
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
MX Guan, Q Yan, X Li, Y Bykhovskaya… - The American Journal of …, 2006 - cell.com
The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been
associated with aminoglycoside-induced and nonsyndromic deafness in many families …
associated with aminoglycoside-induced and nonsyndromic deafness in many families …
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity
MX Guan - Mitochondrion, 2011 - Elsevier
The mitochondrial 12S rRNA is a hot spot for mutations associated with both aminoglycoside-
induced and nonsyndromic hearing loss. Of those, the homoplasmic 1555A> G and 1494C> …
induced and nonsyndromic hearing loss. Of those, the homoplasmic 1555A> G and 1494C> …
Genetics of hearing and deafness
S Angeli, X Lin, XZ Liu - The Anatomical Record: Advances in …, 2012 - Wiley Online Library
This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
Z Li, R Li, J Chen, Z Liao, Y Zhu, Y Qian, S Xiong… - Human genetics, 2005 - Springer
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with
sensorineural hearing loss. We report here a systematic mutational screening of the …
sensorineural hearing loss. We report here a systematic mutational screening of the …
Mitochondrial deafness mutations reviewed
N Fischel‐Ghodsian - Human mutation, 1999 - Wiley Online Library
The first molecular defect for nonsyndromic hearing loss was identified in 1993, and was a
mitochondrial mutation. Since then a number of inherited mitochondrial DNA (mtDNA) …
mitochondrial mutation. Since then a number of inherited mitochondrial DNA (mtDNA) …