Distúrbios da Diferenciação do Sexo Conceito

área de pesquisa

• SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicism
• A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
• Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development
• Análise do gene NR5A1 e aplicação da técnica de sequenciamento do exoma para identificar mutações patogênicas em indivíduos com distúrbio da diferenciação do sexo ovário-testicular 46,XX.
• Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review
• AS CIRCUNSTÂNCIAS DO NASCIMENTO DE CRIANÇAS COM GENITÁLIA AMBÍGUA E SUAS REPERCUSSÕES FAMILIARES E SOCIAIS
• Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
• Avaliação citogenética, molecular e imunoistoquímica de uma amostra de indivíduos com Distúrbio da Diferenciação do Sexo Ovário-Testicular 46,XX ou 46,XY
• Avaliação clínica e citogenética molecular das disgenesias gonadais parciais XY
• Bilateral Wilms? tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region
• Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
• Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review
• DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
• Estudo de microdeleções do cromossomo Y em indivíduos com disgenesia gonadal parcial 46,XY
• Estudo retrospectivo sobre crescimento, puberdade espontânea e anomalias associadas em crianças com disgenesia gonadal parcial XY
• Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development
• Guilherme Guaragna-Filho
• Investigação da frequência de núcleos 45,X por meio de FISH em linfócitos e mucosa oral de homens normais e sua aplicação a mosaicos 45,X/46,XY
• Leydig and Sertoli cell function in individuals with genital ambiguity, a 46,XY karyotype, palpable gonads, and normal testosterone secretion: a case?control study
• Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
• Sex dimorphism of weight and length at birth: evidence based on disorders of sex development
• Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin
• Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service
• Why pediatricians need to know the disorders of sex development: Experience of 709 cases in a specialized service