Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss von Batissoco, Ana Carla, Pedroso-Campos, Vinicius, Pardono, Eliete, Sampaio-Silva, Juliana, Sonoda, Cindy Yukimi, Vieira-Silva, Gleiciele Alice, da Silva de Oliveira Longati, Estefany Uchoa, Mariano, Diego, Hoshino, Ana Cristina Hiromi, Tsuji, Robinson Koji, Jesus-Santos, Rafaela, Abath-Neto, Osório, Bento, Ricardo Ferreira, Oiticica, Jeanne, Lezirovitz, Karina

Volltext

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants von Bertani-Torres, William, Lezirovitz, Karina, Alencar-Coutinho, Danillo, Pardono, Eliete, da Costa, Silvia Souza, Antunes, Larissa do Nascimento, de Oliveira, Judite, Otto, Paulo Alberto, Pingault, Véronique, Mingroni-Netto, Regina Célia

Volltext

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome von Alves, Leandro Ucela, Pardono, Eliete, Otto, Paulo A, Mingroni Netto, Regina Célia

Volltext

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome von Mazzeu, Juliana Forte, Pardono, Eliete, Vianna-Morgante, Angela M., Richieri-Costa, Antônio, Ae Kim, Chong, Brunoni, Décio, Martelli, Lúcia, de Andrade, Carlos Eugênio F., Colin, Guilherme, Otto, Paulo A.

Volltext

Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? von Lezirovitz, Karina, Nicastro, Fernanda Stávale, Pardono, Eliete, Abreu-Silva, Ronaldo Serafim, Batissoco, Ana Carla, Neustein, Isaac, Spinelli, Mauro, Mingroni-Netto, Regina Célia

Volltext

Waardenburg syndrome: Clinical differentiation between types I and II von Pardono, Eliete, van Bever, Yolande, van den Ende, Jenneke, Havrenne, Poti C., Iughetti, Paula, Maestrelli, Sylvia R.P., Costa F, Orozimbo, Richieri-Costa, Antonio, Frota-Pessoa, Oswaldo, Otto, Paulo A.

Volltext

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness von 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

Volltext

The structure of first-cousin marriages in Brazil von Otto, Paulo A., Lemes, Renan B., Farias, Allysson A., Weller, Mathias, Lima, Shirley O. A., Albino, Victor Alves, Marques-Alves, Yanna K., Pardono, Eliete, Bocangel, Magnolia A. P., Santos, Silvana

Volltext

Waardenburg syndrome: Novel mutations in a large Brazilian sample von Bocángel, Magnolia Astrid Pretell, Melo, Uirá Souto, Alves, Leandro Ucela, Pardono, Eliete, Lourenço, Naila Cristina Vilaça, Marcolino, Humberto Vicente Cezar, Otto, Paulo Alberto, Mingroni-Netto, Regina Célia

Volltext

Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant von Pardono, Eliete, Mazzeu, Juliana F., Lezirovitz, Karina, Auricchio, Maria Teresa B.M., Iughetti, Paula, Nascimento, Rafaella M.P., Mingroni-Netto, Regina C., Otto, Paulo A.

Volltext

Conhecimento e utilização da fitoterapia em idosos com aderência às práticas integrativas: estudo piloto von Da Silva, Thatiana Ezzaoui, Pardono, Eliete, De Oliveira, Ricardo Monezi Julião

Volltext

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness von 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

Volltext

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness von 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

Volltext

Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness von 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

Volltext

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness von 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

Volltext

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects von Santos, Silvana C., Pardono, Eliete, Ferreira da Costa, Maria Ione, de Melo, Aurea Nogueira, Graciani, Zodja, de Albuquerque e Souza, Alessandra Cavalcanti, Lezirovitz, Karina, Thiele-Aguiar, Renata Soares, Mingroni-Netto, Regina Célia, Opitz, John M., Kok, Fernando, Otto, Paulo A.

Volltext