Novel OTOF mutations in Brazilian patients with auditory neuropathy
Romanos, Jihane, Kimura, Lilian, Fávero, Mariana Lopes, Izarra, Fernanda Attanasio R, de Mello Auricchio, Maria Teresa Balester, Batissoco, Ana Carla, Lezirovitz, Karina, Abreu-Silva, Ronaldo Serafim, Mingroni-Netto, Regina Célia
Published in Journal of human genetics (01.07.2009)
Published in Journal of human genetics (01.07.2009)
Get full text
Journal Article
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
Nonose, Renata Watanabe, Lezirovitz, Karina, de Mello Auricchio, Maria Teresa Balester, Batissoco, Ana Carla, Yamamoto, Guilherme Lopes, Mingroni-Netto, Regina Célia
Published in BMC medical genetics (08.05.2018)
Published in BMC medical genetics (08.05.2018)
Get full text
Journal Article
The search of a genetic basis for noise-induced hearing loss (NIHL)
Abreu-Silva, Ronaldo Serafim, Rincon, Daniel, Horimoto, Andréa Roseli Vançan Russo, Sguillar, Ary Papa, Ricardo, Luiz Artur Costa, Kimura, Lilian, Batissoco, Ana Carla, Auricchio, Maria Teresa Balester De Mello, Otto, Paulo Alberto, Mingroni-Netto, Regina Célia
Published in Annals of human biology (01.03.2011)
Published in Annals of human biology (01.03.2011)
Get full text
Journal Article
Genomic ancestry of rural African-derived populations from Southeastern Brazil
Kimura, Lilian, Ribeiro-Rodrigues, Elzemar Martins, De Mello Auricchio, Maria Teresa Balester, Vicente, João Pedro, Batista Santos, Sidney Emanuel, Mingroni-Netto, Regina Célia
Published in American journal of human biology (01.01.2013)
Published in American journal of human biology (01.01.2013)
Get full text
Journal Article
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
Angeli, Claudia B., Capelli, Leonardo P., Auricchio, Maria Teresa B.M., Vianna-Morgante, Angela M., Mingroni-Netto, Regina C., Leal-Mesquita, Emygdia R., Ribeiro-dos-Santos, Ândrea K.C., Ferrari, Iris, Oliveira, Silviene F., Klautau-Guimarães, Maria de Nazaré
Published in American journal of medical genetics. Part A (15.01.2005)
Published in American journal of medical genetics. Part A (15.01.2005)
Get full text
Journal Article
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
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.
Published in Genetics and molecular biology (2006)
Published in Genetics and molecular biology (2006)
Get full text
Journal Article
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss
Uehara, Daniela Tiaki, Rincon, Daniel, Abreu-Silva, Ronaldo Serafim, Auricchio, Maria Teresa Balester de Mello, Tabith, Alfredo, Kok, Fernando, Mingroni-Netto, Regina Célia
Published in Genetic testing and molecular biomarkers (01.10.2010)
Published in Genetic testing and molecular biomarkers (01.10.2010)
Get more information
Journal Article
Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations
Mingroni-Netto, Regina Célia, Angeli, Claudia B, Auricchio, Maria Teresa B M, Leal-Mesquita, Emygdia R, Ribeiro-dos-Santos, Andrea K C, Ferrari, Iris, Hutz, Mara H, Salzano, Francisco M, Hill, Kim, Hurtado, A Magdalena, Vianna-Morgante, Angela M
Published in American journal of medical genetics (15.08.2002)
Published in American journal of medical genetics (15.08.2002)
Get more information
Journal Article
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes
Pêgo, Sabina Pena B., Coletta, Ricardo D., Dumitriu, Simona, Iancu, Daniela, Albanyan, Saleh, Kleta, Robert, Auricchio, Maria Teresa, Santos, Luis Antônio, Rocha, Breno, Martelli-Júnior, Hercílio
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.02.2017)
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01.02.2017)
Get full text
Journal Article
Enamel-renal syndrome in two patients with a mutation in FAM20A and atypical hypertrichosis and hearing loss phenotypes
Pêgo, Sabina Pena B., DDS, PhD, Coletta, Ricardo D., DDS, PhD, Dumitriu, Simona, MD, PhD, Lancu, Daniela, MD, PhD, Albanyan, Saleh, MD, Kleta, Robert, MD, PhD, Auricchio, Maria Teresa, PhD, Santos, Luis Antônio, DDS, PhD, Rocha, Breno, DDS, Martelli-Júnior, Hercílio, DDS, PhD
Published in Oral surgery, oral medicine, oral pathology and oral radiology (2016)
Published in Oral surgery, oral medicine, oral pathology and oral radiology (2016)
Get full text
Journal Article
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations
Angeli, Claudia B., Capelli, Leonardo P., Auricchio, Maria Teresa B.M., Vianna-Morgante, Angela M., Mingroni-Netto, Regina C., Leal-Mesquita, Emygdia R., Ribeiro-dos-Santos, Ândrea K.C., Ferrari, Iris, Oliveira, Silviene F., Klautau-Guimarães, Maria de Nazaré
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
Get full text
Journal Article
Heterogeneous Distribution of HbS and HbC Alleles in Afro-derived Brazilian Populations
Oliveira, Silviene F., Pedrosa, Maria Angélica F., Sousa, Sandra M. B., Mingroni-Netto, Regina C., Abe-Sandes, Kiyoko, Ferrari, Íris, Barbosa, Ana A. L., Auricchio, Maria Teresa B. M., Klautau-Guimarães, Maria de Nazaré
Published in International journal of human genetics (01.09.2002)
Published in International journal of human genetics (01.09.2002)
Get full text
Journal Article