Publications by authors named "Soara Menabo"

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Enzymatic Evolution and Longitudinal Recovery in Biotinidase Deficiency: Genotypic and Clinical Insights from the Follow-Up of a Newborn-Screened Cohort in Emilia-Romagna, Italy.
Rita Ortolano, Soara Menabò, Egidio Candela, Giacomo Biasucci, Elisa Bortolamedi

Metabolites· September 2025

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Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Carlotta Pia Cristalli, Sara Calabrese, Luca Caramanna, Andrea Pietra, Giulia Vitetta

Genes (Basel)· April 2025

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The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.
Matteo Righini, Cristiana Corsi, Nicola Sciascia, Valeria Aiello, Francesca Ciurli

J Nephrol· March 2025

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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi

Front Pediatr· December 2020

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Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E Kulle, Paul-Martin Holterhus

Eur J Hum Genet· May 2020

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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Leif Karlsson, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Camila D'Almeida Mgnani Silva, Linus J Östberg

Clin Biochem· November 2019

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46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi

Int J Mol Sci· September 2019

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HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Giulia Severi, Elena Bonora, Annamaria Perri, Emanuela Scarano, Laura Mazzanti

Cytogenet Genome Res· May 2019

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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.
Maria Santa Rocca, Rita Ortolano, Soara Menabò, Federico Baronio, Alessandra Cassio

Fertil Steril· June 2018

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Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
Rosa T Scaramuzzo, Soara Menabò, Lilia Baldazzi, Francesca Moscuzza, Alessandro Saba

Sex Dev· March 2018

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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E Kulle, Paul-Martin Holterhus

Eur J Hum Genet· May 2014

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Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
Annalisa Nicoletti, Milva Bal, Giuseppina De Marco, Lilia Baldazzi, Patrizia Agretti

J Clin Endocrinol Metab· November 2009

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Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.
Soara Menabò, Antonio Balsamo, Annalisa Nicoletti, Monia Gennari, Piero Pirazzoli

Horm Res· October 2008

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Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
Antonio Balsamo, Alessandro Cicognani, Monia Gennari, Wolfgang G Sippell, Soara Menabò

Eur J Endocrinol· February 2007

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