Publications by authors named "Francesca Elli"

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Targeted silencing of in a human model of osteoprogenitor cells results in the deregulation of the osteogenic differentiation program.
Francesca Marta Elli, Deborah Mattinzoli, Masami Ikehata, Francesca Bagnaresi, Maria A Maffini

Front Endocrinol (Lausanne)· June 2024

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The Neurological Pupil index for outcome prognostication in people with acute brain injury (ORANGE): a prospective, observational, multicentre cohort study.
Mauro Oddo, Fabio S Taccone, Matteo Petrosino, Rafael Badenes, Aaron Blandino-Ortiz, Francesca Elli

Lancet Neurol· October 2023

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MesenchymAl stromal cells for Traumatic bRain Injury (MATRIx): a study protocol for a multicenter, double-blind, randomised, placebo-controlled phase II trial.
Elisa R Zanier, Francesca Pischiutta, Eliana Rulli, Alessia Vargiolu, Francesca Elli

Intensive Care Med Exp· August 2023

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Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.
Valentina Morelli, Francesca Marta Elli, Sofia Frigerio, Walter Vena, Serena Palmieri

Eur J Endocrinol· August 2023

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Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
Giulia Rodari, Roberta Villa, Matteo Porro, Silvana Gangi, Maria Iascone, Francesca Elli

Eur J Hum Genet· February 2023

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Fibroblast growth factor 23 level modulates the hepatocyte's alpha-2-HS-glycoprotein transcription through the inflammatory pathway TNFα/NFκB.
Deborah Mattinzoli, Min Li, Giuseppe Castellano, Masami Ikehata, Silvia Armelloni, Francesca Marta Elli

Front Med (Lausanne)· December 2022

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Is Encapsulated Medullary Thyroid Carcinoma Associated With a Better Prognosis? A Case Series and a Review of the Literature.
Andrea Contarino, Alessia Dolci, Marco Maggioni, Francesca Maria Porta, Gianluca Lopez, Francesca Marta Elli

Front Endocrinol (Lausanne)· May 2022

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Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli

Orphanet J Rare Dis· April 2022

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Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Francesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, Matteo Piu, Maria A Maffini

J Bone Miner Res· March 2022

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Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia.
Walter Vena, Valentina Morelli, Maria Carrabba, Francesca Elli, Giovanna Fabio

Front Genet· March 2022

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A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli

Orphanet J Rare Dis· February 2022

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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Francesca M Elli

Horm Res Paediatr· July 2021

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Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.
Laura Mazoni, Matteo Apicella, Federica Saponaro, Giovanna Mantovani, Francesca M Elli

J Clin Endocrinol Metab· July 2021

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PTH resistance.
Giovanna Mantovani, Francesca Marta Elli

Mol Cell Endocrinol· July 2021

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Intracranial pressure monitoring in patients with acute brain injury in the intensive care unit (SYNAPSE-ICU): an international, prospective observational cohort study.
Chiara Robba, Francesca Graziano, Paola Rebora, Francesca Elli, Carlo Giussani

Lancet Neurol· July 2021

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Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
Francesca Marta Elli, Giovanna Mantovani

Endocrine· June 2021

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Association of Dose of Intracranial Hypertension with Outcome in Subarachnoid Hemorrhage.
Giorgia Carra, Francesca Elli, Bogdan Ianosi, Marine Flechet, Lukas Huber

Neurocrit Care· June 2021

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Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
Arrate Pereda, Francesca M Elli, Suzanne Thiele, Luisa de Sanctis, Anya Rothenbuhler

Eur J Endocrinol· February 2021

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A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature.
Alessandro Brancatella, Giovanna Mantovani, Francesca M Elli, Simona Borsari, Claudio Marcocci

Endocrine· February 2020

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Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.
Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli

Front Genet· September 2019

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2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.
Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A Maffini, Paolo Bordogna, Arianna Pirelli

Front Endocrinol (Lausanne)· August 2019

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International prospective observational study on intracranial pressure in intensive care (ICU): the SYNAPSE-ICU study protocol.
Giuseppe Citerio, Lara Prisco, Mauro Oddo, Geert Meyfroidt, Raimund Helbok, Francesca Elli

BMJ Open· April 2019

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FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic Transformation.
Deborah Mattinzoli, Masami Ikehata, Koji Tsugawa, Carlo M Alfieri, Mario Barilani, Francesca M Elli

Int J Mol Sci· February 2019

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Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.
Maria P Yavropoulou, Efstathios Chronopoulos, George Trovas, Emmanouil Avramidis, Francesca Marta Elli

Endocrinol Diabetes Metab Case Rep· January 2019

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Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.
Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Francesca Marta Elli

Case Rep Endocrinol· January 2019

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