Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Andresa De Santi Rodrigues"'
Autor:
Rafael Loch Batista, Elaine M. Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria Jr., Mirian Y. Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 62, Iss 2, Pp 227-235
ABSTRACT 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 to a frame of hormonal resistance, which may present c
Externí odkaz:
https://doaj.org/article/7a1c39cabd4244b38ffdf62a3a17ffd2
Autor:
Marcelo Bordalo Rodrigues, Bruna L Freire, Regina Matsunaga Martin, André Caroli Rocha, Hially R Cabral, Caio Santiago Moises, Thamiris Freitas Maia, Vanda Jorgetti, Andresa De Santi Rodrigues, Alexander A. L. Jorge, Bruno Ferraz de Souza
Publikováno v:
Journal of the Endocrine Society
BACKGROUND CSHS refers to the association of epidermal nevus syndrome (ENS), skeletal dysplasia, and hypophosphatemic osteomalacia (OM) mediated by FGF23 resulting from post zygotic mutations in RAS signaling pathway, with known by relationship with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de1bdae5f1d57a5e89c7af6b9a8716d
http://europepmc.org/articles/PMC7207641
http://europepmc.org/articles/PMC7207641
Autor:
Nathalia Lisboa Gomes, Felipe Martins Elias, Mirian Yumie Nishi, Andresa De Santi Rodrigues, Rafael Loch Batista, Elaine Maria Frade Costa, Berenice B. Mendonca, Raquel Martinez Ramos, Maria Tereza Martins Ferrari, Juliana M Silva, Sorahia Domenice
Publikováno v:
Journal of the Endocrine Society
Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is a X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12), leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8105d7d8f5d7dc505d5ba8f24fcfcb
http://europepmc.org/articles/PMC7207815
http://europepmc.org/articles/PMC7207815
Autor:
Mirela C Miranda, Guiomar Madureira, Tania A. S. S. Bachega, Rafael Loch Batista, Berenice B. Mendonca, Marlene Inácio, Larissa G. Gomes, Andresa De Santi Rodrigues
Publikováno v:
Journal of the Endocrine Society
Introduction: Congenital Adrenal Hyperplasia (CAH) is defined as a group of autosomal recessive disorders characterized by a deficiency of the enzyme required to synthesize cortisol by the adrenal cortex. Defects in the 21-hydroxylase enzyme make up
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe1978814edd3132c5b0d707a6d892f
http://europepmc.org/articles/PMC8090630
http://europepmc.org/articles/PMC8090630
Autor:
Rafael Loch Batista, Aline Zamboni Machado, Rosana Barbosa Silva, Mirian Yumie Nishi, Elaine Maria Frade Costa, Flávia Siqueira Cunha, Andresa De Santi Rodrigues, Berenice B. Mendonca, Sorahia Domenice
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:223-228
Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fb4dab18672172c85f9102b1890bf00
https://doi.org/10.1515/jpem-2017-0095
https://doi.org/10.1515/jpem-2017-0095
Autor:
Guiomar Madureira, Giselle Hayashi, Carla Vallejos, Daniel F. Carvalho, Tânia A.S.S. Bachega, Mirela C Miranda, Andresa De Santi Rodrigues, Cláudia Faure, Vinicius Nahime Brito, Berenice B. Mendonca
Publikováno v:
Clinical Endocrinology. 86:480-487
SummaryIntroduction The primary concern related to congenital adrenal hyperplasia (CAH) newborn screening (NBS) is the high rate of false-positive results (FPR) associated with prematurity; false-negative results (FNR) can also occur due to precociou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b1717136c439a8e9afcce483a3240b
https://doi.org/10.1111/cen.13292
https://doi.org/10.1111/cen.13292
Autor:
Luciani R. Carvalho, Berenice B. Mendonca, Rafael Loch Batista, Sorahia Domenice, Andresa De Santi Rodrigues, Elaine Maria Frade Costa, Juliana M Silva, Mirian Yumie Nishi
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) gene and is the most common aetiology of 46,XY disorders of sex development. Allelic variants in the AR gene are found in 90% of complete AIS (CAIS), but in only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d993a2761297de818cc42c7652029fd6
https://pubmed.ncbi.nlm.nih.gov/30193409
https://pubmed.ncbi.nlm.nih.gov/30193409
Autor:
Alberto Alain Gabbai, Beny Schmidt, Beatriz Hitomi Kiyomoto, Andresa De Santi Rodrigues, Célia Harumi Tengan, Acary Souza Bulle Oliveira
Publikováno v:
Journal of the Neurological Sciences. 264:182-186
Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported very rarely and have muscular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e428764d1db9e5aa0b0fb3a4b441d203
https://doi.org/10.1016/j.jns.2007.08.002
https://doi.org/10.1016/j.jns.2007.08.002