CV Lattes
ResearcherID
ORCID
Google Scholar Citations
Universidade de São Paulo (USP). Faculdade de Medicina (FM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Karina Lezirovitz Mandelbaum in research grants and scholarships supported by FAPESP.
| News published in Agência FAPESP Newsletter about the researcher |
| More itemsLess items |
| TITULO |
| Articles published in other media outlets ( ): |
| More itemsLess items |
| VEICULO: TITULO (DATA) |
| VEICULO: TITULO (DATA) |
The sense of hearing is crucial for human interaction with the environment and its dysfunction orloss can have a lifelong social, financial, vocational, and educational impact. Deafness, hearing loss (HL), orimpairment, is one of the most heterogeneous disorders known. It presents vast clinical (syndromic and nonsyndromic)and etiological heterogeneity, as only for the non-syndromic forms …
Hearing loss is the most frequent sensory defect in humans, can have social, financial, vocational and educational impact for life. The study of deafness genes has contributed decisively to the knowledge of auditory physiology and to the development of strategies of how to intervene to restore it. However, there is still a substantial fraction of deafness genes to be identified. This rese…
Genetic mapping of deafness genes in large families lead to the discovery of more than a hundred loci associated with hereditary deafness, including the DFNA58 locus mapped by our team. About 50 gene products were identified since 1990, providing amazing knowledge to the comprehension of auditory physiology. Thus, the task of identifying novel deafness genes is not trivial, remaining an i…
(Only some records are available in English at this moment)
Hearing loss (HL) affects around 70 million people worldwide, and in 50% to 60% of cases, its origin is genetic. More than 150 genes have been associated with non-syndromic HL, including **STRC** and OTOA, both with an autosomal recessive inheritance pattern and often involved in large deletions (CNVs). The STRC gene, located on chromosome 15, encodes the stereocilin protein. A significa…
Deafness or hearing loss (HL) is one of the most heterogeneous disorders known, both in terms of clinical manifestation and etiology and may manifest in isolation (70% of AP cases) or be syndromic when accompanied by other clinical signs (30%). There are still many genes to be identified, although more than 120 are known only related to non-syndromic hearing loss. Next-generation sequenci…
Deafness, hearing loss or hearing impairment, is one of the most heterogeneous disorders known, both regarding clinical presentation and etiology. In 70% of cases, hearing loss is nonsyndromic. It can show all Mendelian inheritance patterns as well as mitochondrial inheritance. Only three cases of genomic duplication are described in the literature where deafness is nonsyndromic. We ident…
| 1 / 1 | Ongoing grants |
| 5 / 4 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 5 / 2 | Completed scholarships in Brazil |
| 12 / 8 | All research grants and scholarships |
| Associated processes | |