Browsing by Author Auchus, Richard J.

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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
1-Nov-2010Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patientCostenaro, Fabíola; Rodrigues, Ticiana C.; Kater, Claudio Elias [UNIFESP]; Auchus, Richard J.; Papari-Zareei, Mahboubeh; Czepielewski, Mauro A.; Universidade Federal do Rio Grande do Sul Hospital de Clínicas de Porto Alegre; Universidade Federal de São Paulo (UNIFESP); University of Texas Southwestern Medical Center Department of Internal Medicine
1-Dec-2010Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiencyNeres, Marcos S. [UNIFESP]; Auchus, Richard J.; Shackleton, Cedric H. L.; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); University of Texas Southwestern Medical Center Department of Clinical Sciences; University of Birmingham Division of Medical Sciences
1-Jan-2004Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: Direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cellsCosta-Santos, Marivânia [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Dias, Eduardo P.; Auchus, Richard J.; Univ Texas; Universidade Federal de São Paulo (UNIFESP); Felicio Rocho Hosp
1-Jan-2004Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiencyCosta-Santos, Marivânia [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Auchus, Richard J.; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group; Univ Texas; Universidade Federal de São Paulo (UNIFESP)