Results 71 to 80 of about 9,773 (106)

Genetic etiology of non-syndromic hearing loss in Latin America

Human Genetics, 2021
Latin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic profiles regarding the geographical origin of the ancestors and proportions of admixture between the Native American, European and African components. In the first years following the
Karina Lezirovitz, Regina Célia Mingroni-Netto   +1 more
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Genetics of non-syndromic hearing loss in the Middle East

International Journal of Pediatric Otorhinolaryngology, 2014
Hearing impairment is the most common sensory disorder, present 1 in every 500 newborns. About 80% of genetic HL is classified as non-syndromic deafness. To date, over 115 non-syndromic loci have been identified of which fifty associated with autosomal recessive non-syndromic hearing loss (ARNSHL).
Hossein, Najmabadi, Kimia, Kahrizi
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Audiometric Patterns of Genetic Non-syndromal Sensorineural Hearing Loss

International Journal of Audiology, 1997
Sixty-five families with non-syndromal sensorineural hearing loss (NS-SNHL) of genetic aetiology were subtyped according to Gorlin et al. Individual audiogram shapes were also classified in order to detect inter- and intra-familial variations. In 48 families with an Autosomal Dominant (AD) inherited form, 26 exhibited the features of (high-frequency ...
MARTINI, ALESSANDRO, Milani M, Rosignoli M, Mazzoli M, Prosser S.   +4 more
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Non-syndromic congenital hearing loss

Gineco.eu, 2015
Non-syndromic congenital hearing loss is a global problem. It is the most common disorder at birth, occurring in 1-2/1000 newborns. Congenital hearing loss leads to delayed language development, impaired psychosocial interactions abnormal behavior and poor educational achievement.
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Genetic testing for congenital non-syndromic sensorineural hearing loss

International Journal of Pediatric Otorhinolaryngology, 2019
Approximately 60% of congenital pediatric hearing loss is of genetic etiology. To evaluate non-syndromic sensorineural hearing loss (NSSNHL), guidelines emphasize the use of comprehensive genetic testing (CGT) with next generation sequencing (NGS), yet these tests have limited accessibility, and potential CGT results may not be well understood.
Mallory Raymond, Elizabeth Walker, Ishaan Dave, Kavita Dedhia   +3 more
openaire   +2 more sources

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Nature Genetics, 1999
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2 that are predicted to affect the triple-helix domain of the collagen protein.
McGuirt, W.T., Prasad, S.D., Griffith, A.J., Kunst, H.P.M., Green, G.E., Shpargel, K.B., Runge, C., Huybrechts, C., Mueller, R.F., Lynch, E., King, M.C., Brunner, H.G., Cremers, C.W.R.J., Takanosu, M., Li, S.W., Arita, M., Mayne, R., Prockop, D.J., Van Camp, G., Smith, R.J.H.   +19 more
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Genomic copy number alterations in non‐syndromic hearing loss

Clinical Genetics, 2015
Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array‐CGH patients presenting non‐syndromic hearing loss with presumptive autosomal ...
C, Rosenberg, É L, Freitas, D T, Uehara, M T B M, Auricchio, S S, Costa, J, Oiticica, A G, Silva, A C, Krepischi, R C, Mingroni-Netto   +8 more
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Non-syndromic hereditary sensorineural hearing loss

The Journal of Laryngology & Otology, 2014
Background: Hereditary sensorineural hearing loss is the most frequently occurring birth defect. It has profound effects for the individual and is a substantial burden on society. Insight into disease mechanisms can help to broaden therapeutic options and considerably lower lifetime social costs.
Stelma, F., Bhutta, M. F.
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Genetic and clinical diagnosis in non-syndromic hearing loss

Hearing Balance and Communication, 2013
Once a diagnosis of unilateral or bilateral congenital hearing loss is established in an infant by age-specific auditory testing, a search for an underlying aetiological diagnosis is required. A rational and cost-efficient aetiological work-up requires a basic knowledge about risk factors and the most common reasons for ...
Manou Sommen, Guy van Camp, An Boudewyns
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Non-syndromic hereditary sensorineural hearing loss: review of the genes involved

The Journal of Laryngology & Otology, 2014
AbstractBackground:Hereditary sensorineural hearing loss is the most frequently occurring birth defect. It has profound effects for the individual and is a substantial burden on society. Insight into disease mechanisms can help to broaden therapeutic options and considerably lower lifetime social costs.
F, Stelma, M F, Bhutta
openaire   +2 more sources