Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki, Silke B. Lohan, Sandra C. Doelken, +20

Journal of Medical Genetics

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

Ana Carla Batissoco, Ronaldo Serafim Abreu-Silva, Maria Cristina C. Braga, +5

Ear and Hearing

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

Lúcia Inês Macedo‐Souza, Fernando Kok, Silvana Santos, +6

Annals of Neurology

Novel OTOF mutations in Brazilian patients with auditory neuropathy

Jihane Romanos, Lilian Kimura, Mariana Lopes Fávero, +6

Journal of Human Genetics

Genetic DisorderAuditory Neuropathy Spectrum DisorderAudiologyNovel Otof MutationsAuditory Physiology +3

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Karina Lezirovitz, Eliete Pardono, Maria Teresa Balester De Mello Auricchio, +6

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsAudiologyGenetic Heterogeneity +5

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Lúcia Inês Macedo‐Souza, Fernando Kok, Silvana Santos, +11

Annals of Human Genetics

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

Karina Lezirovitz, Sylvia Regina Pedrosa Maestrelli, Nelson Henderson Cotrim, +3

Human Genetics

Shfld SyndromeMendelian DisorderGenetic DisorderGeneticsPathogenesis +4

&lt;a name="home"&gt;&lt;/a&gt;Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients

Ronaldo Serafim Abreu-Silva, Karina Lezirovitz, Maria Cristina C. Braga, +5

Brazilian Journal of Medical and Biological Research

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss

Vitor G.L. Dantas, Manmeet H. Raval, Ángela Ballesteros, +11

Scientific Reports

Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?

Karina Lezirovitz, Fernanda Stávale Nicastro, Eliete Pardono, +5

Journal of Human Genetics

Oculocutaneous AlbinismMendelian DisorderGenetic DisorderAudiologyArts +2