Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD)
Suemi Marui Berenice Bilharinho de Mendonca; Vivian Estefan; Ivo Jorge Prado Arnhold; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 34 res. P2-198, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Poor reproducibility of IGF-I and IGFBP-3 generation test in children with short stature
Alexander A. L Jorge Silvia C. A. L Souza; Ivo J. P Arnhold; Berenice Bilharinho Mendonca; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p.78A. res. PI-461, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
21-hydroxylase deficiency (classic form) in black descendents from Bahia molecular, clinical and familial study
Maria Betania M. B. Toralles Ana E. C Billerbeck; Berenice Bilharinho Mendonca; Eliana Azevedo; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 113A. res. PI-673, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Absence of HEXS1 gene mutations in patients with growth hormone deficiency (GHD) associated to cerebral and/or facial midline defects (MLD)
Luciani R. S. Carvalho Berenice Bilharinho de Mendonca; Veronica Mericq; Jose A. M Marcondes; Teresa C. A Vieira; Mirta Knoepfelmacher; Fernando Kok; Ivo J. P Arnhold; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 33A res. P2-194, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
A novel mutation (G267S) on the CYP11B1 gene in a patient with 11ß-hydroxylase deficiency causing complete virilization
Maricilda P. de Mello Junia Y Penachioni; Margaret de Castro; Tania A. S. S Bachega; Berenice Bilharinho Mendonca; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 119A. res. PI-711, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Male pseudohermaphroditism associated with low birthweight
Elaine M. F. Costa Rafaela V Correa; Karla F. A. S Melo; Ivo Jorge Prado Arnhold; Berenice Bilharinho Mendonca; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 57A. res. P3-334, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Androgen insensitivity syndrome - mutations in androgen receptor in eight patients
Durval Damiani Marcia J. A Carvalho; Vae Dichtchkenian; Angela Barbosa; Carlos Alberto Moreira-Filho Lumbroso, serge; Chrales Sultan; Dulce R Guedes; Nuvarte Setian; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 52 res. P3-304, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Absence of inactivating mutations in the GH receptor gene (GHR) in children with idiopathic short stature (ISS) and low levels of IGFBP-3
Alexander A. L. Jorge Chin J Lin; Silvia C. A. L Souza; Ivo Jorge Prado arnhold; Berenice Bilharinho Mendonca; AnnualMeetingofthePediatricAcademicSocieties (2001Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 69A. res. P1-407, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)