Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Soara Menabo"'
Autor:
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase;
Externí odkaz:
https://doaj.org/article/6f4bc2e678d14f1784386e1d2ae93dc0
Autor:
Camila D.Almeida Mgnani Silva, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Soara Menabo, Leif Karlsson, Bengt Persson, Svetlana Lajic, Linus J. Östberg, Lilia Baldazzi, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Antonio Balsamo, Michela Barbaro, Maricilda Palandi de Mello, Nella Augusta Greggio
Publikováno v:
Clinical Biochemistry. 73:50-56
Objective Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical c
Autor:
Soara Menabo
Publikováno v:
L'Endocrinologo.
SommarioLa ricerca di varianti patogenetiche del gene CYP21A2, responsabili del 90–95% dei casi di iperplasia surrenale congenita, è resa altamente complessa dall’omologia di sequenza con lo pseudogene, dall’elevata frequenza di ricombinazione
Autor:
Alessandra Cassio, Valeria Di Natale, Rita Ortolano, Lilia Baldazzi, Soara Menabo, Sofia Vissani, Federico Baronio, Antonio Balsamo
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatrics
Frontiers in Pediatrics
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase;
Autor:
S Castelli, Flaminia Fanelli, G. Di Dalmazi, Alessandra Gambineri, Valentina Vicennati, Lilia Baldazzi, G Brillanti, Uberto Pagotto, Andrea Repaci, Paola Altieri, Soara Menabo, C. Pelusi, Renato Pasquali, Marco Mezzullo, Elena Nardi, A Dormi, Francesca Corzani, Claudia Oriolo
Publikováno v:
Journal of endocrinological investigation. 43(10)
Objective: We aimed at defining the most effective routine immunoassay- or liquid chromatography-tandem mass spectrometry (LC–MS/MS)-determined steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency (21-
Autor:
Emanuela Scarano, Giulia Severi, Annamaria Perri, Roberta Zuntini, Laura Mazzanti, Claudio Graziano, Soara Menabo, Elena Bonora, Federica Isidori
Publikováno v:
Cytogenetic and Genome Research. 157:135-140
We report a patient with developmental delay, brachydactyly type E, short stature, and tetralogy of Fallot. Brachydactyly-mental retardation syndrome (BDMR) was suspected based on the phenotype; however, array CGH excluded a 2q37 deletion, but identi
Autor:
Luisa Balestrino, Carlo Carcassi, Antonella Meloni, Sandro Loche, Stefano Mariotti, Antonio Balsamo, Giovanni Romeo, Rita Ortolano, Stefania Murru, Lilia Baldazzi, Alessandro Gialluisi, Soara Menabo, Letizia Casula, Maria Carla Farci
Publikováno v:
Clinical Genetics. 93:223-227
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) se
Autor:
Paolo Ghirri, Rosa T. Scaramuzzo, Antonio Balsamo, Francesca Moscuzza, Antonio Boldrini, Lilia Baldazzi, Soara Menabo, Alessandro Saba
Publikováno v:
Sexual Development. 11:82-85
We report the case of 2 sisters (46,XX) born from consanguineous Moroccan parents. Both sisters had normal female genitalia, but within 2 weeks after birth, they presented with a severe salt-wasting crisis. Hormonal investigations suggested the diagn
Autor:
Paola Altieri, Silvia Castelli, Alessandra Gambineri, Francesca Corzani, Uberto Pagotto, Claudia Oriolo, Soara Menabo, Daniela Ibarra Gasparini, Lilia Baldazzi
Publikováno v:
Endocrine Abstracts.
Autor:
Sara Alfano, Federica Anselmi, Donatella Capalbo, Mariacarolina Salerno, Lilia Baldazzi, Mase Raffaella Di, Nicola Improda, Giancarlo Parenti, Wudy Stefan Alexander, Soara Menabo
Publikováno v:
Endocrine Abstracts.