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1
Novel mutations of PAX3, MITF and SOX10 genes found in Waardenburg syndrome types 1 and 2 in Brazilian patients
Novel mutations of PAX3, MITF and SOX10 genes found in Waardenburg syndrome types 1 and 2 in Brazilian patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Novel mutations of PAX3, MITF and SOX10 genes found in Waardenburg syndrome types 1 and 2 in Brazilian patients

M. A Prettel Bocangel Regina Celia Mingroni Netto; Paulo A Otto; Congresso Brasileiro de Genética (59. 2013 Águas de Lindóia)

Resumos Ribeirão Preto: Sociedade Brasileira de Genética - SBG, 2013

Ribeirão Preto Sociedade Brasileira de Genática - SBG 2013

Acesso online

2
Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"
Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"
Material Type:
Artigo 		Adicionar ao Meu Espaço

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"

Ronaldo Serafim Abreu-Silva Ana Carla Batissoco; Karina Lezirovitz; Jihane Romanos; Daniel Rincon; Maria Teresa Ballester de Melo Auricchio; Paulo A Otto; Regina Celia Mingroni Netto

Biochemical and Biophysical Research Communications v. 343, n. 3, p. 675-676, 2006

San Diego 2006

Item não circula. Consulte sua biblioteca.(Acessar)

3
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)
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)
Material Type:
Artigo 		Adicionar ao Meu Espaço

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)

Gerson S Kobayashi Gleiciele A. Vieira Silva; Elisa Varella Branco; Danielle P Moreira; João Paulo F. W Kitajima; Claudia R.M.L Hemza; Regina Celia Mingroni Netto; Fernando H Lojudice; Jeanne Oiticica; Ricardo F Bento; Ana C Batissoco; Karina Lezirovitz

Stem Cell Research Amsterdam: Elsevier BV v. 71, e. 103181, 2023

Amsterdam 2023

Item não circula. Consulte sua biblioteca.(Acessar)

4
Waardenburg syndrome the contribution of next-generation sequencing to the identification of novel causative variants
Waardenburg syndrome the contribution of next-generation sequencing to the identification of novel causative variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

Waardenburg syndrome the contribution of next-generation sequencing to the identification of novel causative variants

William Bertani Torres Karina Lezirovitz; Danillo Alencar Coutinho; Eliete Pardono; Silvia Souza da Costa; Larissa do Nascimento Antunes; Judite de Oliveira; Paulo A Otto; Véronique Pingault; Regina Celia Mingroni Netto

Audiology Research Basel: MDPI AG v. 14, n. 1, p. 9-25, 2024

Basel 2024

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Mingroni Netto, R
  2. Lezirovitz, K
  3. Otto, P
  4. Batissoco, A
  5. Oliveira, J

Neste Assunto:

  1. Perda Auditiva
  2. Mutação Genética
  3. Dna Mitocondrial
  4. Pigmentos
  5. Íris (Anormalidades)

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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