Search Results - D. Bernardi
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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development by J.L. Cunha, Fernanda Caroline Soardi, R.D. Bernardi, Luiz Eduardo Chimello de Oliveira, Celso Eduardo Benedetti, Gil Guerra‐Júnior, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello
Published 2011Artigo -
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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development by J.L. Cunha, Fernanda Caroline Soardi, R.D. Bernardi, Luiz Eduardo Chimello de Oliveira, Celso Eduardo Benedetti, Gil Guerra‐Júnior, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello
Published 2011Artigo -
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Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening by Fernanda Caroline Soardi, Sofia Helena Valente de Lemos‐Marini, Fernanda Borchers Coeli, Víctor Gonçalves Maturana, Márcia Duarte Barbosa da Silva, R.D. Bernardi, Giselle Z. Justo, Maricilda Palandi de Mello
Published 2008Artigo -
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Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency by Fernanda Borchers Coeli, Fernanda Caroline Soardi, R.D. Bernardi, Marcela de Araújo, Luciana Campos Paulino, Ivy F. Lau, Reginaldo José Petroli, Sofia Helena Valente de Lemos‐Marini, M T M Baptista, Gil Guerra‐Júnior, Maricilda Palandi de Mello
Published 2010Artigo
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Biology
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Gene
Genetics
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DNA-binding protein
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Sex reversal
Testis determining factor
Transcription factor
Y chromosome
21-Hydroxylase
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