User profiles for S. Domenice

SORAHIA DOMENICE

Professora Assistente do Hospital das Clínicas da Faculdade de Medicina da USP
Verified email at hcnet.usp.br
Cited by 4431

46, XY disorders of sex development (DSD)

BB Mendonca, S Domenice, IJP Arnhold… - Clinical …, 2009 - Wiley Online Library
The term disorders of sex development (DSD) includes congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present …

[HTML][HTML] Androgen insensitivity syndrome: a review

…, MY Nishi, IJP Arnhold, S Domenice… - … of endocrinology and …, 2018 - SciELO Brasil
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation
in 46,XY individuals. It results from alterations in the androgen receptor gene, leading …

Wide spectrum of NR5A1‐related phenotypes in 46, XY and 46, XX individuals

S Domenice, AZ Machado, FM Ferreira… - … Research Part C …, 2016 - Wiley Online Library
Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved
in adrenal and gonadal development and function. Mutations in NR5A1 have been among …

Sleep characteristics of adolescents: a longitudinal study

MMM Andrade, AA Benedito-Silva, S Domenice… - Journal of Adolescent …, 1993 - Elsevier
The aim of the present research was to study sleep/wake cycle parameters of adolescents
and to examine biologic and social influences on their changing sleep patterns. This was a …

An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical …

AC Latronico, EM Pinto, S Domenice… - The Journal of …, 2001 - academic.oup.com
… (19) recently identified p53 germ line mutations in 85% of 14 children with adrenocortical
tumors who were ascertained from Manchester Children’s Tumor Registry. The spectrum of …

Cushing's Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations of GNAS1 Gene

MCBV Fragoso, S Domenice… - The Journal of …, 2003 - academic.oup.com
… in three patients with Cushing’s syndrome due to AIMAH, … distinct cause of Cushing’s
syndrome associated with multiple … of five women with Cushing’s syndrome secondary to AIMAH …

Ectopic ACTH syndrome: our experience with 25 cases

…, MC Machado, S Domenice… - European Journal of …, 2006 - academic.oup.com
Objective Ectopic ACTH syndrome (EAS) occurs in about 5–10% of all patients with ACTH-dependent
hypercortisolism with most of them caused by intrathoracic neoplasms. It may be …

[HTML][HTML] Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

…, MCBF Villares, S Domenice… - … de Endocrinologia & …, 2004 - SciELO Brasil
The incidence of adrenocortical tumors in children from the Southern region of Brazil is
higher than in other parts of the world. This fact has been related to the identification of an …

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

RV Correa, S Domenice, NC Bingham… - The Journal of …, 2004 - academic.oup.com
… Y1 mouse adrenocortical tumor cells were grown in Ham’s F-10 supplemented with 15%
horse serum and 2.5% FBS. Mouse MA-10 Leydig tumor cells were grown in Waymouth’s

Management of 46, XY differences/disorders of sex development (DSD) throughout life

…, MHP Sircili, FT Dénes, S Domenice… - Endocrine …, 2019 - academic.oup.com
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual’s sex chromosomes, gonads, and/…