Search Results - "Fialho, G."

WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case by Gonçalves, A.C., Matos, T.D., Simões-Teixeira, H.R., Pimenta Machado, M., Simão, M., Dias, Ó.P., Andrea, M., Fialho, G., Caria, H.

“…Low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of HL in which frequencies at 2000Hz and below are predominantly affected. Most of the…”
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Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging by Gonçalves, A C, Santos, R, O'Neill, A, Escada, P, Fialho, G, Caria, H

“…Pendred syndrome (PS) is the second most common type of autosomal recessive syndromic hearing loss (HL). It is characterised by sensorineural HL and goiter…”
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A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss by Matos, T.D., Caria, H., Simões-Teixeira, H., Aasen, T., Dias, O., Andrea, M., Kelsell, D.P., Fialho, G.

“…Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different…”
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Gene symbol: GJB2 by Matos, Tiago, Caria, H, Teixeira, H, Fialho, G

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Toxoplasma gondii: Congenital transmission in a hamster model by Freyre, A., Fialho, C.G., Bigatti, L.E., Araujo, F.A.P., Falcón, J.D., Mendez, J., González, M.

“…The objective of the research was to test the hamster for a model of transmission of congenital toxoplasmosis. A non-invasive method for the diagnosis of…”
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A novel hearing loss-related mutation occurring in the GJB2 basal promoter by Matos, T D, Caria, H, Simões-Teixeira, H, Aasen, T, Nickel, R, Jagger, D J, O’Neill, A, Kelsell, D P, Fialho, G

“…Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic…”
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Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association by Matos, Tiago Daniel, Simões-Teixeira, Helena, Caria, Helena, Cascão, R., Rosa, H., O'Neill, A., Dias, Ó., Andrea, M. E., Kelsell, D. P., Fialho, Graça

“…Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C>T, c.-23G>T, and…”
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A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma by Caria, H, Matos, T, Oliveira‐Soares, R, Santos, AR, Galhardo, I, Soares‐Almeida, L, Dias, O, Andrea, M, Correia, C, Fialho, G

“…ABSTRACT Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK)…”
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Protection in a hamster model of congenital toxoplasmosis by Freyre, A., Araujo, F.A.P., Fialho, C.G., Bigatti, L.E., Falcón, J.D.

“…Almost uniform protection against congenital toxoplasmosis initiated by inoculations with cysts and oocysts of the parasite was seen in the hamster model,…”
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Caratterizzazione della mutazione SLC26A4 c.918+2T>C e report di una nuova variante potenzialmente a rischio by Gonçalves, A.C., Santos, R., O’Neill, A., Escada, P., Fialho, G., Caria, H.

“…La sindrome di Pendred è, in ordine di frequenza, la seconda causa di ipoacusia su base genetica autosomica recessiva. Si manifesta con un ipoacusia…”
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Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population by Haider, Haúla F, Flook, Marisa, Aparicio, Mariana, Ribeiro, Diogo, Antunes, Marilia, Szczepek, Agnieszka J, Hoare, Derek J, Fialho, Graça, Paço, João C, Caria, Helena

“…Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In…”
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Effects of 24-h Shift Work in the Emergency Room on Ambulatory Blood Pressure Monitoring Values of Medical Residents by Fialho, Guilherme, Cavichio, Luciano, Povoa, Rui, Pimenta, João

“…Medical residency is marked by long work hours and shift work. The acute effects of these factors on the blood pressure (BP) of medical residents have not been…”
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Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus? by Caroça, Cristina, de Matos, Tiago Morim, Ribeiro, Diogo, Lourenço, Vera, Martins, Tânia, Campelo, Paula, Fialho, Graça, Silva, Susana Nunes, Paço, João, Caria, Helena

“…Hearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly…”
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Can vegetation corridors support a small mammal community similar to that found within forest fragments? A case study in southeastern Brazil by Fialho, Mariana Y. G., Cerboncini, Ricardo A. S., Passamani, Marcelo

“…Vegetation corridors are generally proposed as a strategy to reduce forest fragment isolation in fragmented landscapes. In southern Minas Gerais, Brazil,…”
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Caratterizzazione della mutazione SLC26A4 c.918+2T>C e report di una nuova variante potenzialmente a rischio by A.C. Gonçalves, R. Santos, A. O’Neill, P. Escada, G. Fialho, H. Caria

“…La sindrome di Pendred è, in ordine di frequenza, la seconda causa di ipoacusia su base genetica autosomica recessiva. Si manifesta con un ipoacusia…”
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Exploring molecular interactions in two aqueous alkanolamines mixtures using refractive indices and molecular probes by Moita, Maria-Luísa C.J., Fialho, Beatriz G., Santos, Ângela F.S., Lampreia, Isabel M.S.

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Probing molecular interactions in the system {water + 2-(diethylamino) ethanol} using solvatochromic dyes and excess partial molar enthalpies, at 298.15 K by Moita, Maria-Luísa C.J., Fialho, Beatriz G., Santos, Ângela F.S., Lampreia, Isabel M.S.

“…[Display omitted] •Solvatochromic dyes were used to probe polarity descriptors for the system {water + 2-(diethylamino)ethanol}.•Direct excess partial molar…”
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Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report by Chora, Joana Rita, Simões-Teixeira, Helena, Matos, Tiago Daniel, Martins, Jorge Humberto, Alves, Marisa, Ferreira, Raquel, Silva, Luís, Ribeiro, Carlos, Fialho, Graça, Caria, Helena

“…Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation,…”
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Phase Space Calculations by Fialho, G. E. A.

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A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma by Caria, H, Matos, T, Oliveira-Soares, R, Santos, AR, Galhardo, I, Soares-Almeida, L, Dias, O, Andrea, M, Correia, C, Fialho, G

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