46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features
Baronio, Federico, Ortolano, Rita, Menabò, Soara, Cassio, Alessandra, Baldazzi, Lilia, Di Natale, Valeria, Tonti, Giacomo, Vestrucci, Benedetta, Balsamo, Antonio
Published in International journal of molecular sciences (17.09.2019)
Published in International journal of molecular sciences (17.09.2019)
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Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
Menabò, Soara, Polat, Seher, Baldazzi, Lilia, Kulle, Alexandra E, Holterhus, Paul-Martin, Grötzinger, Joachim, Fanelli, Flaminia, Balsamo, Antonio, Riepe, Felix G
Published in European journal of human genetics : EJHG (01.05.2020)
Published in European journal of human genetics : EJHG (01.05.2020)
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Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
Rocca, Maria Santa, Ortolano, Rita, Menabò, Soara, Baronio, Federico, Cassio, Alessandra, Russo, Gianni, Balsamo, Antonio, Ferlin, Alberto, Baldazzi, Lilia
Published in Fertility and sterility (01.06.2018)
Published in Fertility and sterility (01.06.2018)
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Thyrotropin-Stimulating Hormone Receptor Gene Analysis in Pediatric Patients with Non-Autoimmune Subclinical Hypothyroidism
Nicoletti, Annalisa, Bal, Milva, De Marco, Giuseppina, Baldazzi, Lilia, Agretti, Patrizia, Menabò, Soara, Ballarini, Elisa, Cicognani, Alessandro, Tonacchera, Massimo, Cassio, Alessandra
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
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HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
Severi, Giulia, Bonora, Elena, Perri, Annamaria, Scarano, Emanuela, Mazzanti, Laura, Isidori, Federica, Zuntini, Roberta, Menabò, Soara, Graziano, Claudio
Published in Cytogenetic and genome research (01.01.2019)
Published in Cytogenetic and genome research (01.01.2019)
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Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia
Scaramuzzo, Rosa T., Menabò, Soara, Baldazzi, Lilia, Moscuzza, Francesca, Saba, Alessandro, Balsamo, Antonio, Boldrini, Antonio, Ghirri, Paolo
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant
Balsamo, Antonio, Baronio, Federico, Ortolano, Rita, Menabo, Soara, Baldazzi, Lilia, Di Natale, Valeria, Vissani, Sofia, Cassio, Alessandra
Published in Frontiers in pediatrics (22.12.2020)
Published in Frontiers in pediatrics (22.12.2020)
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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia
Karlsson, Leif, de Paula Michelatto, Débora, Lusa, Ana Letícia Gori, D'Almeida Mgnani Silva, Camila, Östberg, Linus J., Persson, Bengt, Guerra-Júnior, Gil, Valente de Lemos-Marini, Sofia Helena, Baldazzi, Lilia, Menabó, Soara, Balsamo, Antonio, Greggio, Nella Augusta, Palandi de Mello, Maricilda, Barbaro, Michela, Lajic, Svetlana
Published in Clinical biochemistry (01.11.2019)
Published in Clinical biochemistry (01.11.2019)
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Impact of MTHFR Polymorphisms C677T and A1298C in Acute Lymphoblastic Leukemia and Burkitt Lymphoma Patients Exposed to Methotrexate and Asparaginase
Sartor, Chiara, Pagano, Benedetta, Menabò, Soara, Cristiano, Gianluca, Nanni, Jacopo, Zannoni, Letizia, Zingarelli, Federico, Parisi, Sarah, Broccoli, Alessandro, Paolini, Stefania, Zinzani, Pier Luigi, Cavo, Michele, Papayannidis, Cristina, Curti, Antonio
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1
Balsamo, Antonio, Cicognani, Alessandro, Gennari, Monia, Sippell, Wolfgang G, Menabò, Soara, Baronio, Federico, Riepe, Felix G
Published in European journal of endocrinology (01.02.2007)
Published in European journal of endocrinology (01.02.2007)
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Three Novel AMHGene Mutations in a Patient with Persistent Müllerian Duct Syndrome and Normal AMH Serum Dosage
Menabò, Soara, Balsamo, Antonio, Nicoletti, Annalisa, Gennari, Monia, Pirazzoli, Piero, Cicognani, Alessandro, Baldazzi, Lilia
Published in Hormone research in paediatrics (01.08.2008)
Published in Hormone research in paediatrics (01.08.2008)
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Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage
Menabò, Soara, Balsamo, Antonio, Nicoletti, Annalisa, Gennari, Monia, Pirazzoli, Piero, Cicognani, Alessandro, Baldazzi, Lilia
Published in Hormone research (01.01.2008)
Published in Hormone research (01.01.2008)
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