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14 results

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Page 1
Mitochondrial deafness.
Fischel-Ghodsian N. Fischel-Ghodsian N. Ear Hear. 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5. Ear Hear. 2003. PMID: 12923421 Review.
Surprisingly, however, inherited mitochondrial mutations also have been found to be a cause of non-syndromic hearing loss, and predispose to aminoglycoside induced hearing loss, while acquired mitochondrial mutations have be …
Surprisingly, however, inherited mitochondrial mutations also have been found to be a cause of non-syndromic hearing …
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.
Schrijver I. Schrijver I. J Mol Diagn. 2004 Nov;6(4):275-84. doi: 10.1016/S1525-1578(10)60522-3. J Mol Diagn. 2004. PMID: 15507665 Free PMC article. Review.
Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large number of mutations, but specific mutations in a single gene may lead to syndromic or non-syndromic hearing loss. S …
Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large num …
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, Liu XZ. Ouyang XM, et al. J Hum Genet. 2009 Mar;54(3):131-40. doi: 10.1038/jhg.2009.4. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197336 Free PMC article. Review.
Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused …
Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chi …
[Modification factors associated with maternally inherited non-syndromic hearing loss].
Hong WJ, Zheng BJ, Qian JF, Wu H, Jin H, Zhu YT. Hong WJ, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017 Jun 7;52(6):472-477. doi: 10.3760/cma.j.issn.1673-0860.2017.06.017. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017. PMID: 28635225 Review. Chinese.
Mutations in the mitochondrial DNA have been certified to be one of the most important causes of maternally inherited sensorineural hearing loss. Among these, mitochondrial 12S rRNA1555A>G, 1494C>T and other mutations are associated with b …
Mutations in the mitochondrial DNA have been certified to be one of the most important causes of maternally inherited sensorineura …
Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation.
Usami S, Abe S, Shinkawa H, Kimberling WJ. Usami S, et al. J Commun Disord. 1998 Sep-Oct;31(5):423-34; quiz 434-5. doi: 10.1016/s0021-9924(98)00014-8. J Commun Disord. 1998. PMID: 9777488 Review.
Mutations in mitochondrial DNA, which are maternally inherited, have been thought to be one of the causes of sensorineural hearing loss. ...The A1555G mutation causes increased susceptibility to aminoglycoside antibiotic-induced hearing loss …
Mutations in mitochondrial DNA, which are maternally inherited, have been thought to be one of the causes of sensorineural …
Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature.
Berrettini S, Forli F, Passetti S, Rocchi A, Pollina L, Cecchetti D, Mancuso M, Siciliano G. Berrettini S, et al. Biosci Rep. 2008 Feb;28(1):49-59. doi: 10.1042/BSR20070027. Biosci Rep. 2008. PMID: 18215147 Review.
Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. ...Among the known mtDNA mutations, the A1555G mutation in the 12S …
Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both synd …
Diagnosis routine and approach in genetic sensorineural hearing loss.
Abreu Alves FR, Quintanilha Ribeiro Fde A. Abreu Alves FR, et al. Braz J Otorhinolaryngol. 2007 May-Jun;73(3):412-7. doi: 10.1016/s1808-8694(15)30087-2. Braz J Otorhinolaryngol. 2007. PMID: 17684664 Free PMC article. Review.
Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to better determine the hearing loss. Genetic tests and mitochondrial inheritance should be considered in any family with ma …
Through a high suspicion index, syndromic cases can be diagnosed or excluded, with a careful evaluation and molecular basis tests used to be …
Deafness genes.
Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H. Kitamura K, et al. J Med Dent Sci. 2000 Mar;47(1):1-11. J Med Dent Sci. 2000. PMID: 12162522 Review.
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing loss, and in half of that number the loss is inherited. ...To date, 31 autosomal dominant, 28 autosomal recessive, and 6 X-lin …
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing …
The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK, Zhao F, Danesh AA, Duprey R. Manchaiah VK, et al. Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):151-8. doi: 10.1016/j.ijporl.2010.11.023. Epub 2010 Dec 21. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21176974 Review.
It is estimated that approximately 40% of cases have an underlying genetic basis, which can be inherited in both syndromic and non syndromic conditions. This review paper provides an overview of the genetic conditions associated with auditory neuropathy spectrum dis …
It is estimated that approximately 40% of cases have an underlying genetic basis, which can be inherited in both syndromic and non …
[Non-syndromic hereditary hearing impairment].
Birkenhäger R, Aschendorff A, Schipper J, Laszig R. Birkenhäger R, et al. Laryngorhinootologie. 2007 Apr;86(4):299-309; quiz 310-3. doi: 10.1055/s-2007-966309. Laryngorhinootologie. 2007. PMID: 17407011 Review. German.
Hearing impairment is the most common sensorineural disorder in humans. ...Genetic causes of hearing impairment in combination with a syndrome as Usher, Pendred are distinguished from non-syndromic hearing impairment. ...
Hearing impairment is the most common sensorineural disorder in humans. ...Genetic causes of hearing impairment in comb …
14 results