Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Mariana, Costanzo"'
Autor:
Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A. Rivarola, Alicia Belgorosky
Publikováno v:
JCRPE, Vol 11, Iss 1, Pp 24-33 (2019)
Objective:The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population.Methods:We studied 41, non related, 46,XY disorder of sexual differentiation index cases, having characteristics consis
Externí odkaz:
https://doaj.org/article/c6602376e5884b39b76c135a2b3fd8fe
Autor:
María Celeste Mattone, María Victoria Lobo de la Vega, Emiro J. Redondo, Pablo D’Alessandro, Natalia Perez Garrido, María Laura Galluzzo, Mariana Costanzo, Verónica Zaidman, Juan Manuel Lazzati, Esperanza Berensztein, Pablo Ramirez, Roxana Marino, Alicia Belgorosky, Marta Ciaccio, Marcela Bailez, Gabriela Guercio
Publikováno v:
Sexual Development. :1-7
Background: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (A
Autor:
Gabriela Guercio, Nora Saraco, Mariana Costanzo, Roxana Marino, Pablo Ramirez, Esperanza Berensztein, Marco A. Rivarola, Alicia Belgorosky
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Several reports in humans as well as transgenic mouse models have shown that estrogens play an important role in male reproduction and fertility. Estrogen receptor alpha (ERα) and beta (ERβ) are expressed in different male tissues including the bra
Externí odkaz:
https://doaj.org/article/e33a22b8ae8d48318e95a41a69c43a3f
Autor:
Marta Ciaccio, Mariana Costanzo, Maria Laura Galluzzo Mutti, Silvia Gil, Gabriela Guercio, Alicia Belgorosky, Alejandra Casanovas, Veronica Zaidman, Maria Celeste Mattone, Juan Manuel Lazzati
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:19-27
Pediatric adrenocortical tumors are rare and heterogeneous endocrine malignancies. Objectives To report clinical, biochemical, and histological features, staging, and therapeutic interventions in a cohort of 28 patients treated at a single tertiary c
Autor:
Mariana Costanzo, María Sol Touzon, Roxana Marino, Gabriela Guercio, Pablo Ramirez, María Celeste Mattone, Natalia Pérez Garrido, María Marcela Bailez, Elisa Vaiani, Marta Ciaccio, María Laura Galluzzo Mutti, Alicia Belgorosky, Esperanza Berensztein
Publikováno v:
European journal of endocrinology. 187(3)
Background Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective The aim of this study is to report the histological characteristics and imm
Autor:
Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD
Autor:
Roxana Marino, Leila Fusee, Caroline Eozenou, Gabriela Guercio, Masomeh Askari, Anne Jørgensen, Mohseni Meybodi A, Mehdi Totonchi, Selma F. Witchel, Maria Sol Touzon, Joelle Bignon-Topalovic, Merel-Chali T, Alaa K. Kamel, Mariana Costanzo, Priti Singh, Svetlana A. Yatsenko, Balázs Gellén, Pablo Ramirez, Roberta Migale, Nitzan Gonen, Andrea J. Berman, Rana Mainpal
Publikováno v:
Yearbook of Paediatric Endocrinology.
Publikováno v:
Seminars in pediatric surgery. 30(4)
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Patients usually present during the newborn period but occasionally som
Autor:
E. Berensztein, Michael A. Weiss, Roxana Marino, Mariana Costanzo, M. Bailez, Joseph D Racca, Pablo Ramirez, María Sonia Baquedano, Malosetti C, Alicia Belgorosky, Deepak Chatterjee, Yen-Shan Chen, E. Vaiani, Yanwu Yang, Galluzzo-Mutti Ml, Maria Sol Touzon
ObjectiveTo describe the clinical, histopathological and molecular features of a novel inherited SRY allele (p.Met64Val; consensus box position 9) observed within an extensive pedigree: two 46, XY sisters with primary amenorrhea (16 and 14 years of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ff9afb86c4c61eaa4e4e8b1c0dfb650
https://doi.org/10.1101/2021.05.05.442859
https://doi.org/10.1101/2021.05.05.442859
Autor:
Caroline, Eozenou, Nitzan, Gonen, Maria Sol, Touzon, Anne, Jorgensen, Svetlana A, Yatsenko, Leila, Fusee, Alaa K, Kamel, Balazs, Gellen, Gabriela, Guercio, Priti, Singh, Selma, Witchel, Andrea J, Berman, Rana, Mainpal, Mehdi, Totonchi, Anahita, Mohseni Meybodi, Masomeh, Askari, Tiphanie, Merel-Chali, Joelle, Bignon-Topalovic, Roberta, Migale, Mariana, Costanzo, Roxana, Marino, Pablo, Ramirez, Natalia, Perez Garrido, Esperanza, Berensztein, Mona K, Mekkawy, John C, Schimenti, Rita, Bertalan, Inas, Mazen, Ken, McElreavey, Alicia, Belgorosky, Robin, Lovell-Badge, Aleksandar, Rajkovic, Anu, Bashamboo
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Sex development involves a precise spatiotemporal expression and interactions of numerous genetic factors, including the WT1 (Wilms tumor 1) gene. Complete and partial loss-of-function WT1 variants are associated with 46,XY disorders/dif