Search Results - "Menabó, Soara"

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia by 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

“…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…”
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46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features by Baronio, Federico, Ortolano, Rita, Menabò, Soara, Cassio, Alessandra, Baldazzi, Lilia, Di Natale, Valeria, Tonti, Giacomo, Vestrucci, Benedetta, Balsamo, Antonio

“…The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal,…”
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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 by Rocca, Maria Santa, Ortolano, Rita, Menabò, Soara, Baronio, Federico, Cassio, Alessandra, Russo, Gianni, Balsamo, Antonio, Ferlin, Alberto, Baldazzi, Lilia

“…To study the functional properties of six novel missense mutations of the NR5A1 gene encoding the steroidogenic factor 1 (SF-1) identified in six patients with…”
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Novità nella diagnosi genetica di iperplasia surrenale congenita da deficit di 21-idrossilasi by Soara, Menabò

“…Sommario La ricerca di varianti patogenetiche del gene CYP21A2 , responsabili del 90–95% dei casi di iperplasia surrenale congenita, è resa altamente complessa…”
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Thyrotropin-Stimulating Hormone Receptor Gene Analysis in Pediatric Patients with Non-Autoimmune Subclinical Hypothyroidism by Nicoletti, Annalisa, Bal, Milva, De Marco, Giuseppina, Baldazzi, Lilia, Agretti, Patrizia, Menabò, Soara, Ballarini, Elisa, Cicognani, Alessandro, Tonacchera, Massimo, Cassio, Alessandra

“…Context: Mutations in TSH receptor (TSHR) are notoriously associated with congenital hypothyroidism as well as with non-autoimmune subclinical hypothyroidism,…”
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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations by Menabò, Soara, Polat, Seher, Baldazzi, Lilia, Kulle, Alexandra E, Holterhus, Paul-Martin, Grötzinger, Joachim, Fanelli, Flaminia, Balsamo, Antonio, Riepe, Felix G

“…Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is…”
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Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations by Menabò, Soara, Polat, Seher, Baldazzi, Lilia, Kulle, Alexandra E, Holterhus, Paul-Martin, Grötzinger, Joachim, Fanelli, Flaminia, Balsamo, Antonio, Riepe, Felix G

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia by Scaramuzzo, Rosa T, Menabò, Soara, Baldazzi, Lilia, Moscuzza, Francesca, Saba, Alessandro, Balsamo, Antonio, Boldrini, Antonio, Ghirri, Paolo

“…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,…”
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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant by Balsamo, Antonio, Baronio, Federico, Ortolano, Rita, Menabo, Soara, Baldazzi, Lilia, Di Natale, Valeria, Vissani, Sofia, Cassio, Alessandra

“…Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage…”
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Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1 by Balsamo, Antonio, Cicognani, Alessandro, Gennari, Monia, Sippell, Wolfgang G, Menabò, Soara, Baronio, Federico, Riepe, Felix G

“…Objective: The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2)…”
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Impact of MTHFR Polymorphisms C677T and A1298C in Acute Lymphoblastic Leukemia and Burkitt Lymphoma Patients Exposed to Methotrexate and Asparaginase by 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

“…Background: Asparaginase (Asp) and high-dose methotrexate (HDMTX) are pivotal drugs in the treatment of aggressive hematological malignancies as acute…”
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Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage by Menabò, Soara, Balsamo, Antonio, Nicoletti, Annalisa, Gennari, Monia, Pirazzoli, Piero, Cicognani, Alessandro, Baldazzi, Lilia

“…Persistentmullerian duct syndrome (PMDS) is characterized by the presence of uterus, fallopian tubes and the upper part of the vagina in 46,XY patients with…”
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