Search Results - "Batissoco, Ana C"

A Cell Junctional Protein Network Associated with Connexin-26 by Batissoco, Ana C, Salazar-Silva, Rodrigo, Oiticica, Jeanne, Bento, Ricardo F, Mingroni-Netto, Regina C, Haddad, Luciana A

“…mutations are the leading cause of non-syndromic inherited hearing loss. encodes connexin-26 (CX26), which is a connexin (CX) family protein expressed in…”
Get full text

Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A) by Kobayashi, Gerson S., Vieira-Silva, Gleiciele A., Varella-Branco, Elisa, Moreira, Danielle P., Kitajima, João Paulo F.W., Hemza, Claudia R.M.L., Mingroni-Netto, Regina C., Lojudice, Fernando H., Oiticica, Jeanne, Bento, Ricardo F., Batissoco, Ana C., Lezirovitz, Karina

“…The DFNA58 locus contains a genomic duplication involving three protein-coding genes (CNRIP1, PLEK, and PPP3R1′s exon 1) and other uncharacterized lncRNA genes…”
Get full text

A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58 by Lezirovitz, Karina, Vieira-Silva, Gleiciele A, Batissoco, Ana C, Levy, Débora, Kitajima, Joao P, Trouillet, Alix, Ouyang, Ellen, Zebarjadi, Navid, Sampaio-Silva, Juliana, Pedroso-Campos, Vinicius, Nascimento, Larissa R, Sonoda, Cindy Y, Borges, Vinícius M, Vasconcelos, Laura G, Beck, Roberto M O, Grasel, Signe S, Jagger, Daniel J, Grillet, Nicolas, Bento, Ricardo F, Mingroni-Netto, Regina C, Oiticica, Jeanne

“…Abstract Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal…”
Get full text

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness by LEZIROVITZ, Karina, PARDONO, Eliete, DE MELLO AURICCHIO, Maria T. B, DE CARVALHO E SILVA, Fernando L, LOPES, Juliana J, ABREU-SILVA, Ronaldo S, ROMANOS, Jihane, BATISSOCO, Ana C, MINGRONI-NETTO, Regina C

Get full text

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family by Lezirovitz, Karina, Batissoco, Ana C., Lima, Fernanda T., Auricchio, Maria T.B.M., Nonose, Renata W., dos Santos, Simone R., Guilherme, Luiza, Oiticica, Jeanne, Mingroni-Netto, Regina C.

“…We ascertained a Brazilian family with nine individuals affected by autosomal dominant nonsyndromic sensorineural hearing loss. The bilateral hearing loss…”
Get full text

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness by Lezirovitz, Karina, Pardono, Eliete, de Mello Auricchio, Maria T B, de Carvalho E Silva, Fernando L, Lopes, Juliana J, Abreu-Silva, Ronaldo S, Romanos, Jihane, Batissoco, Ana C, Mingroni-Netto, Regina C

“…Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been…”
Get full text

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness by Lezirovitz, Karina, Pardono, Eliete, De Mello Auricchio, Maria Tb, De Carvalho E Silva, Fernando L, Lopes, Juliana J, Abreu-silva, Ronaldo S, Romanos, Jihane, Batissoco, Ana C, Mingroni-netto, Regina C

Get full text

Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea by Oiticica, Jeanne, Barboza-Junior, Luiz Carlos M, Batissoco, Ana Carla, Lezirovitz, Karina, Mingroni-Netto, Regina C, Haddad, Luciana A, Bento, Ricardo F

“…Culturing otospheres from dissociated organ of Corti is an appropriate starting point aiming at the development of cell therapy for hair cell loss. Although…”
Get full text

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness by Lezirovitz, Karina, Pardono, Eliete, Auricchio, Maria TB de Mello, Silva, Fernando L de Carvalho e, Lopes, Juliana J, Abreu-Silva, Ronaldo S, Romanos, Jihane, Batissoco, Ana C, Mingroni-Netto, Regina C

Get full text

Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness by Lezirovitz, Karina, Pardono, Eliete, de Mello Auricchio, Maria TB, de Carvalho e Silva, Fernando L, Lopes, Juliana J, Abreu-Silva, Ronaldo S, Romanos, Jihane, Batissoco, Ana C, Mingroni-Netto, Regina C

Get full text