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Molecular genetics study of deafness in Brazil: 8-year experience
(Wiley-lissHobokenEUA, 2007)
Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
(2013)
Hearing loss is the most common inherited sensorial defi ciency in humans; about 1 in 1000 children suff er from severe or profound hearing
loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, ...
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
(NATURE PUBLISHING GROUP, 2008)
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred ...
Etiologic and diagnostic evaluation: Algorithm for severe to profound sensorineural hearing loss in Brazil
(Informa HealthcareLondonInglaterra, 2013)
Investigating deafness genes as a cause of sudden sensorineural hearing loss
(Sociedade Brasileira de Genática - SBGÁguas de Lindóia, 2013-09-16)
Hearing loss is a very heterogeneous genetic condition, meaning that identical or similar phenotypes result from
mutations in many di erent genes, with diverse inheritance mechanisms. Sudden sensorineural hearing loss ...
Molecular study in Brazilian cochlear implant recipients
(Wiley-lissHobokenEUA, 2007)
Perda auditiva em indivíduos paralíticos cerebrais: discussão etiológica
(ABORL-CCF Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial, 2002-05-13)
Aim: the present study aimed at verifying the ability to detect pure tones of different frequencies by means of liminal tonal audiometries. Study design: clinical prospective randomized. Material and method: we studied 67 ...
Screening Of Genetic Alterations Related To Non-syndromic Hearing Loss Using Massarray Iplex (r) Technology
(BIOMED CENTRAL LTDLONDON, 2015)
Implante coclear: correlação da recuperação neural, privação auditiva e etiologia
(Pró-Fono Produtos Especializados para Fonoaudiologia Ltda., 2010)
TEMA: a Função de Recuperação do Nervo Auditivo (REC) pode ser extraída do potencial de ação das fibras neurais - ECAP (Eletrically Evoked Compound Action Potential). O ECAP pode ser influenciado pela estimulação recebida ...
Anomalias oculares em pacientes portadores de deficiência auditiva genética
(Conselho Brasileiro de Oftalmologia, 2000-12-01)
Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients. Methods: 97 patients with definite or suspected ...