Maria Teresa B.M. Auricchio

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Background. It has been widely suggested that analyses considering multilocus effects would be crucial to characterize the relationship between gene variability and essential hypertension (EH). Objective. To test for the presence of multilocus effects between/among seven polymorphisms (six genes) on blood pressure-related traits in African-derived(More)
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing(More)
The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo(More)
To the Editor: Hearing loss (HL) is one of the most genetically heterogeneous disorders known. Post-lingual HL affects 10% of the population by the age of 60 years, with genetic causes playing an important role (1). Non-syndromic deafness represents 70% of all hereditary cases. Autosomal dominant inheritance probably accounts for 20% of all cases of(More)
In this study the effects on nutritional status and energetic metabolism due to abdominal irradiation were analysed. Adult male Wistar rats (48), were divided in two groups Control (C) and Radiated (R). The rats were maintained all time in metabolic cages. The study was done in two periods: Period 1 begun at 0 day, where rats adapted to cages and oral diet,(More)
An experimental study was carried out with the purpose to examine the 4-epidoxorubicine (4-EPI) action on malignant tumor development and its repercussion on nutritional conditions of the host. Cancer and chemotherapy can generate malnutrition. In order to study the nutritional repercussions, 48 host Wistar rats were divided into 5 groups: Group C: 12(More)
In order to assess the molecular variability related to fragile X (FMR1 locus), we investigated the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. Special attention was given to Amerindian Wai-Wai (Northern Brazil) and Ache (Paraguay), as well as to Brazilian isolated(More)
At least 25 African-derived populations (quilombo remnants) are believed to exist in the Ribeira River Valley, located in the southern part of São Paulo State, Brazil. We studied four Alu polymorphic loci (APO, ACE, TPA25, and FXIIIB) in individuals belonging to six quilombo remnants in addition to individuals sampled from the city of São Paulo. The allelic(More)
Ballana et al. [E. Ballana, E. Morales, R. Rabionet, B. Montserrat, M. Ventayol, O. Bravo, P. Gasparini, X. Estivill, Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment, Biochem. Biophys. Res. Commun. 341 (2006) 950-957] detected a T1291C mutation segregating in a Cuban pedigree with(More)
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family(More)