Publications by authors named "Francesca Teofoli"

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Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.
Federico Baronio, Enrica Abrigo, Sara Azzolini, Paolo Cavarzere, Cristina Cereda, Francesca Teofoli

J Endocrinol Invest· November 2025

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Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.
Margherita Ruoppolo, Cristina Cereda, Teresa Giovanniello, Sabrina Malvagia, Sara Boenzi, Francesca Teofoli

Int J Neonatal Screen· September 2025

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Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Francesca Teofoli

Int J Neonatal Screen· July 2024

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Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).
Simona De Angelis, Emanuela Medda, Daniela Rotondi, Maria Masocco, Valentina Minardi, Francesca Teofoli

J Clin Endocrinol Metab· January 2024

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A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Francesca Teofoli

Arch Endocrinol Metab· January 2023

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Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.
Paolo Cavarzere, Marta Camilot, Laura Palma, Silvana Lauriola, Rossella Gaudino, Francesca Teofoli

Horm Res Paediatr· August 2022

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli

Int J Neonatal Screen· August 2022

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A Gain-of-Function Mutation on Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Francesca Teofoli

Genes (Basel)· January 2022

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Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Francesca Teofoli

Front Pediatr· May 2021

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Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, Monica Vincenzi, Marta Camilot, Francesca Teofoli

J Neurol· May 2020

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Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli

Ital J Pediatr· January 2018

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High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, Angelo Pietrobelli, Natascia Campostrini, Francesca Teofoli

Public Health Nutr· October 2017

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Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management.
Paolo Cavarzere, Marta Camilot, Florina Ion Popa, Silvana Lauriola, Francesca Teofoli

Eur J Endocrinol· November 2016

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Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns.
Monica Vincenzi, Florina Ion Popa, Massimiliano Corradi, Alberto Gandini, Francesca Teofoli

Minerva Pediatr· June 2016

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Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
Monica Vincenzi, Marta Camilot, Eleonora Ferrarini, Francesca Teofoli, Giacomo Venturi

BMC Endocr Disord· August 2014

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3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
Florina Ion Popa, Silvia Perlini, Francesca Teofoli, Daniela Degani, Silvia Funghini

JIMD Rep· February 2013

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Enhanced interpretation of newborn screening results without analyte cutoff values.
Gregg Marquardt, Robert Currier, David M S McHugh, Dimitar Gavrilov, Mark J Magera, Francesca Teofoli

Genet Med· July 2012

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Francesca Teofoli

Genet Med· March 2011

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Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Paolo Cavarzere, Monica Vincenzi, Rossella Gaudino, Roberto Franceschi, Silvia Perlini, Francesca Teofoli

Fertil Steril· November 2010

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Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
Anna Rapa, Alice Monzani, Stefania Moia, Daniela Vivenza, Simonetta Bellone, Francesca Teofoli

J Clin Endocrinol Metab· July 2009

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Anthropometric traits and aging: a cross-sectional survey in diabetic elderly women.
Nicoletta Onisto, Francesca Teofoli, Luciana Zaccagni, Emanuela Gualdi-Russo

Arch Gerontol Geriatr· May 2009

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Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
Giuseppina De Marco, Patrizia Agretti, Marta Camilot, Francesca Teofoli, Luciano Tatò

Clin Endocrinol (Oxf)· February 2009

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Prepubertal serum inhibin B in cryptorchid infants and in monorchid boys with compensatory testicular hypertrophy.
Rossella Gaudino, Paolo Cavarzere, Marta Camilot, Francesca Teofoli, Nicola Zampieri

Fertil Steril· December 2008

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Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
Marta Camilot, Francesca Teofoli, Monica Vincenzi, Francesca Federici, Silvia Perlini

Genet Test· May 2008

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Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Marta Camilot, Francesca Teofoli, Alberto Gandini, Roberto Franceschi, Anna Rapa

Clin Endocrinol (Oxf)· August 2005

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