Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Fernanda Caroline Soardi"'
Autor:
Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Isabella Monlleo
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse
Externí odkaz:
https://doaj.org/article/d59a302f2a2d4581a58aa32ae25e35e3
Autor:
Kaio Raffael Valotta Bezerra, Sarah Cristina Sato Vaz Tanaka, Vanessa Resende Souza Silva, Marina Carvalho Paschoinni, Roseane Lopes da Silva Grecco, Fernanda Caroline Soardi, Marly Aparecida Spadotto Balarin
Publikováno v:
Revista Brasileira de Saúde Materno Infantil
Abstract Objectives: the present study aimed to evaluate the association between the rs1799998 polymorphism of the CYP11B2 gene and the susceptibility to preeclampsia (PE) in a Brazilian population. Methods: the study group comprised 61 women who wer
Externí odkaz:
https://doaj.org/article/ae9bf0d51a784bb2a5df7b90ffd4fc17
Autor:
Vanessa Resende Souza Silva, Sarah Cristina Sato Vaz Tanaka, Roseane Lopes da Silva Grecco, Fernanda Caroline Soardi, Kaio Raffael Valotta Bezerra, Marina Carvalho Paschoinni, Marly Aparecida Spadotto Balarin
Publikováno v:
Revista Brasileira de Saúde Materno Infantil, Volume: 20, Issue: 2, Pages: 467-471, Published: 05 AUG 2020
Revista Brasileira de Saúde Materno Infantil
Revista Brasileira de Saúde Materno Infantil v.20 n.2 2020
Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF)
instacron:IMIPFF
Revista Brasileira de Saúde Materno Infantil
Revista Brasileira de Saúde Materno Infantil v.20 n.2 2020
Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF)
instacron:IMIPFF
Objectives: the present study aimed to evaluate the association between the rs1799998 polymorphism of the CYP11B2 gene and the susceptibility to preeclampsia (PE) in a Brazilian population. Methods: the study group comprised 61 women who were diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d31f968bb3f2b2f4cae1a1bab1443bd
https://doi.org/10.1590/1806-93042020000200008
https://doi.org/10.1590/1806-93042020000200008
Autor:
Reginaldo José Petroli, Fernanda Caroline Soardi, Isabella Lopes Monlleó, Reinaldo Luna de Omena Filho, Maricilda Palandi de Mello, Tais Nitsch Mazzola, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Débora de Paula Michelatto, Helena Fabbri-Scallet
Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb98fdc5005181db6743fb12847dbff3
https://doi.org/10.21203/rs.3.rs-869034/v1
https://doi.org/10.21203/rs.3.rs-869034/v1
Autor:
Olaf Hiort, Maricilda Palandi de Mello, Dagmar Struve, Reginaldo José Petroli, Fernanda Caroline Soardi, Ralf Werner, Ivo J.P. Arnhold, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Angela Maria Spinola-Castro, Karla F. S. Melo, Julia K. Gesing
Publikováno v:
Sexual Development. 11:238-247
Androgens are responsible for the development and maintenance of male sex characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor gene (AR) can lead to androgen insensitivity syndrome (AIS) that can be classified as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8581c3439de951dd93ce6aab91500e
https://doi.org/10.1159/000484882
https://doi.org/10.1159/000484882
Autor:
Marina Carvalho Paschoini, Vanessa Resende Souza Silva, Marly Aparecida Spadotto Balarin, Sarah Cristina Sato Vaz Tanaka, Roseane Lopes da Silva-Grecco, Fernanda Caroline Soardi
Publikováno v:
Archives of Gynecology and Obstetrics. 291:1029-1035
Pre-eclampsia (PE) is a pregnancy-specific multisystemic syndrome characterized by high blood pressure and presence of protein in the urine. The pathogenesis of pre-eclampsia is poorly understood and many factors such as environment, genetic, and imm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f242d9dd181bd7cb25b57e6f5fcd1e1
https://doi.org/10.1007/s00404-014-3503-2
https://doi.org/10.1007/s00404-014-3503-2
Autor:
Anna Wedell, Svetlana Lajic, Bengt Persson, Fernanda Caroline Soardi, Linus J. Östberg, Michela Barbaro, Maricilda Palandi de Mello
Publikováno v:
Clinical Endocrinology. 82:37-44
A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Conge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9787d68e114c72e12d3ea7146ce6dc8
https://doi.org/10.1111/cen.12526
https://doi.org/10.1111/cen.12526
Autor:
José Paulo Cabral de Vasconcellos, Fernanda Caroline Soardi, Izabella Agostinho Pena Neshich, Vital Paulino Costa, Goran Neshich, Mônica Barbosa de Melo, Carolina A. Braghini, Maricilda Palandi de Mello
Publikováno v:
Gene. 523(1):50-57
Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0279c3f8cf69d79b681511195059f10f
Autor:
Reginaldo José Petroli, Maricilda Palandi de Mello, Ana Letícia Gori Lusa, Flávia Leme de Calais, Fernanda Caroline Soardi, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Roberto Benedito de Paiva e Silva
Publikováno v:
International Journal of Molecular Sciences
Volume 12
Issue 12
Pages 9471-9480
International Journal of Molecular Sciences, Vol 12, Iss 12, Pp 9471-9480 (2011)
Volume 12
Issue 12
Pages 9471-9480
International Journal of Molecular Sciences, Vol 12, Iss 12, Pp 9471-9480 (2011)
The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c67025b149e7515bf7bc4704d47b675
https://doi.org/10.3390/ijms12129471
https://doi.org/10.3390/ijms12129471
Autor:
Lília D'Souza-Li, Arnaldo Moura-Neto, Maricilda Palandi de Mello, Heraldo Mendes Garmes, Adriana Mangue Esquiaveto-Aun, Sofia Helena Valente de Lemos-Marini, Fernanda Canova Denardi, Maria Tereza Matias Baptista, Gil Guerra-Júnior, Daniel Minutti de Oliveira, Fernanda Caroline Soardi, Patrícia Sabino de Matos, Helena Campos Fabbri
Publikováno v:
Arquivos Brasileiros de Endocrinologia & Metabologia. 54:754-760
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2252da8019bad6d4198fde8a91ea974
https://doi.org/10.1590/s0004-27302010000800016
https://doi.org/10.1590/s0004-27302010000800016