Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients
Sorahia Domenice Rafaela V Correa; Elaine M. F Costa; Karla F. S Melo; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; ENDO - The Endocrine Society's Annual Meeting (85. 2003 Philadelphia)
Resumos Philadelphia p. 241, res. P1-460, 2003
Philadelphia 2003
Localização:
FM - Fac. Medicina
(BCSEP 2003 198 ) e outros locais(Acessar)
Number of CAG repeats in Exon 1 of androgen receptor gene is not related to gender identity in adult patients with male psudohermaphroditism and male transexualism
Elaine M. F. Costa Ana Elisa C Billerbeck; Rosana Rocha; Karla F Melo; Tania A. S. S Bachega; Regina M Martin; Elisa D. R. U Verduguez; Ivo J. P Arnhold; Marlene Inacio; Berenice B Mendonça; ENDO - The Endocrine Society's Annual Meeting (85. 2003 Philadelphia)
Resumos Philadelphia p. 622, res. P3-618, 2003
Philadelphia 2003
Localização:
FM - Fac. Medicina
(BCSEP 2003 198 ) e outros locais(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; Annual Meeting of the Pediatric Academic Societies (2001 Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 57A. res. P3-334, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
Microdelecao no gene do fator esteroidogenico 1 (SF-1) causando reverso 46,XY sem insuficiencia adrenal primeira descricao da literatura
Rafaela V. Correa Sorahia Domenice; Ana Elisa C Billerbeck; Karla F. A. S Melo; Elaine M. F Costa; Ana Claudia Latronico; Berenice Bilharinho de Mendonça; Congresso Paulista de Endocrinologia e Metabologia (4. 2001 São Paulo)
Arquivos Brasileiros de Endocrinologia & Metabologia Sao Paulo v. 45, n. 02, supl. 02, p. S183, res. OR01, 2001
Sao Paulo 2001
Localização:
FM - Fac. Medicina
(BCSEP 2001 039 ) e outros locais(Acessar)
A microdeletion in the ligand binding domain of steroidogenic factor 1 causing XY sex reversal without adrenal insufficiency
Rafaela V. Correa Sorahaia Dominice; Ana Elisa Correia Billerbeck; Karla F. A. S Melo; Elaine M. F Costa; Ana C Latronico; Berenice Bilharinho Mendonca; Annual Meeting of the Pediatric Academic Societies (2001 Baltimore)
Pediatric Research Philadelphia v. 49, n. 4 pt. 2, p. 55 res. P3-322, 2001
Philadelphia 2001
Item não circula. Consulte sua biblioteca.(Acessar)
An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene predominantly male ambiguous genitalia and absence of gonadal dysgenesis
Karla F. S. Melo Regina M Martin; Elaine M. F Costa; Filomena Carvalho; Alexander A Jorge; Ivo J. P Arnhold; Berenice B Mendonça
The Journal of Clinical Endocrinology & Metabolism Bethesda v. 87, n. 6, p. 2500-2505, 2002
Bethesda 2002
Item não circula. Consulte sua biblioteca.(Acessar)
An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene predominantly male ambiguous genitalia and absence of gonadal dysgenesis
Karla F. S. Melo Regina M Martin; Elaine M. F Costa; Filomena Carvalho; Alexander A Jorge; Ivo J. P Arnhold; Berenice B Mendonça
The Journal of Clinical Endocrinology & Metabolism Bethesda v. 87, n. 6, p. 2500-2505, 2002
Bethesda 2002
Item não circula. Consulte sua biblioteca.(Acessar)
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitibity syndrome in a brazilian cohort five novel mutations in the androgen receptor gene
Karla F. S. Melo Berenice B Mendonça; Ana Elisa C Billerbeck; Elaine M. F Costa; Marlene Inacio; Frederico A. Q Silva; Angela M. O Leal; Ana Claudia Latronico Xavier; Ivo Jorge P Arnhold
The Journal of Clinical Endrocrinology & Metabolism 2003 v. 88, n. 12, p. 3241-3250, 2003
Bethesda 2003
Item não circula. Consulte sua biblioteca.(Acessar)
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitibity syndrome in a brazilian cohort five novel mutations in the androgen receptor gene
Karla F. S. Melo Berenice B Mendonça; Ana Elisa C Billerbeck; Elaine M. F Costa; Marlene Inacio; Frederico A. Q Silva; Angela M. O Leal; Ana Claudia Latronico Xavier; Ivo Jorge P Arnhold
The Journal of Clinical Endrocrinology & Metabolism 2003 v. 88, n. 12, p. 3241-3250, 2003
Bethesda 2003
Item não circula. Consulte sua biblioteca.(Acessar)