Publications by authors named "Ana Flavia Martinho Ferreira"
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Caio Robledo D' Angioli Costa Quaio Antonio Victor Campos Coelho Livia Maria Silva Moura Rafael Lucas Muniz Guedes Kelin Chen Ana Flavia Martinho Ferreira Tatiana Ferreira de Almeida
Front Genet
August 2022
Article Synopsis
- Hearing loss (HL) is common and poses both clinical and social challenges; a study analyzed whole-genome sequencing data from 2,097 individuals without HL to find variant associations with nonsyndromic hearing loss (NSHL).
- The researchers identified 10.59% of individuals as heterozygotes for sequence variants and a lower percentage for copy-number variants, with certain genes frequently linked to HL.
- A notable finding was that 4.96% of participants had variants tied to autosomal dominant NSHL, suggesting a potential risk for future hearing loss, and the estimated population frequency for affected individuals with autosomal recessive NSHL was about 1 in 2,222.
(group B , GBS) is a major pathogen in humans and animals. Pili and biofilm may be important virulence factors in this bacterial species. Here, biofilm production and the distribution of pilus variants among 134 GBS isolates from human and animal sources were evaluated.
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