Adriano Bueno Tavares
Universidade Católica de Brasília
Network
Latest external collaboration on country level. Dive into details by clicking on the dots.
Publication
Featured researches published by Adriano Bueno Tavares.
Fertility and Sterility | 2010
Frederico José Silva Corrêa; Adriano Bueno Tavares; Rinaldo Wellerson Pereira; Mauricio Simões Abrão
OBJECTIVE To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. DESIGN Case report. SETTING University medical center. PATIENT(S) A 28-year-old woman. INTERVENTION(S) Clinical evaluation, hormone assays, gene mutation research. MAIN OUTCOME MEASURE(S) FOXL2 gene mutation. RESULT(S) The patient with hypergonadotropic hypogonadism was diagnosed with BPES due to a new FOXL2 gene mutation. CONCLUSION(S) Blepharophimosis-ptosis-epicanthus inversus syndrome is a rare disorder associated with premature ovarian failure (POF). The syndrome is an autosomal dominant trait that causes eyelid malformations and POF in affected women. Mutations in FOXL2 gene, located in chromosome 3, are related to the development of BPES with POF (BPES type I) or without POF (BPES type II). This report demonstrates a previously undescribed de novo mutation in the FOXL2 gene-a thymidine deletion, c.627delT (g.864delT)-in a woman with a sporadic case of BPES and POF. This mutation leads to truncated protein production that is related to a BPES type I phenotype. This report shows the importance of family history and genetic analysis in the evaluation of patients with POF and corroborates the relationship between mutations on the FOXL2 gene and ovarian insufficiency.
Archive | 2010
Anderson Albuquerque de Carvalho; Lucy Gomes; Adriano Bueno Tavares
Acta Médica Portuguesa | 2010
Anderson Albuquerque de Carvalho; Lucy Gomes; Adriano Bueno Tavares
Pesqui. prát. psicossociais | 2008
Alda Abrahão Faiad Góes; Carmen Jansen de Cárdenas; Lucy Gomes; Adriano Bueno Tavares
Estudos Interdisciplinares sobre o Envelhecimento | 2014
Aline Teixeira Alves; Raquel Henriques Jácomo; Wellington Alves Epaminondas; Dayanne Soares Faria; Renata de Menezes Leite; Liana Barbaresco Gomide; Adriano Bueno Tavares
Revista Kairós : Gerontologia | 2009
Kallynne Rodrigues de Carvalho; Rejane Maria Cruvinel Cabral; Demétrio Antonio Gonçalves da Silva Gomes; Adriano Bueno Tavares
Revista Kairós : Gerontologia | 2009
Alessandra Ribeiro Ventura Oliveira; Lucy Gomes; Adriano Bueno Tavares
Revista Kairós : Gerontologia | 2008
Olga Hack; Lucy Gomes; Adriano Bueno Tavares
Archive | 2008
Alda Abrahão; Faiad Góes; Carmen Jansen de Cárdenas; Lucy Gomes; Adriano Bueno Tavares
J. bras. med | 2008
Adriano Bueno Tavares; Demétrio Antonio Gonçalves da Silva Gomes; Thais Ferreira Medeiros; Cláudia Elaine Cestári
Collaboration
Dive into the Adriano Bueno Tavares's collaboration.
Kallynne Rodrigues de Carvalho
Pontifícia Universidade Católica de São Paulo
View shared research outputs