Karina Lezirovitz
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(BR)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, RNA regulation and disease, Hearing Loss and Rehabilitation, Connexins and lens biology, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion(2011)93 cited
- → Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling(2008)88 cited
- → Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13(2005)77 cited
- → Novel OTOF mutations in Brazilian patients with auditory neuropathy(2009)63 cited
- → Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness(2007)62 cited
- → Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes(2009)43 cited
- → A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3(2008)34 cited
- → <a name="home"></a>Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients(2006)32 cited
- → Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss(2018)31 cited
- → Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25(2008)26 cited