Publications by authors named "Francesca Boaretto"

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Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.
Laura Guazzarotti, Chiara Mozzato, Silvia Zoletto, Francesca Boaretto, Chiara Rigon

Endocr Connect· September 2025

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Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.
Valentina Melfi, Tasnim Mohamed, Alessandra Colciago, Alessandra Fasciani, Raffaele De Francesco, Francesca Boaretto

Heliyon· October 2024

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DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.
Gaia Martire, Federica Lovisa, Elisa Carraro, Domenico Rizzato, Simone Cesaro, Francesca Boaretto

Haematologica· September 2024

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Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Francesca Boaretto

Sci Rep· August 2024

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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto

Eur J Hum Genet· May 2023

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DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Ugo Sorrentino, Chiara Piccolo, Chiara Rigon, Valeria Brasson, Eva Trevisson, Francesca Boaretto

Audiol Res· October 2021

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Von Hippel-Lindau disease and multispecialist team.
Giacomo Pavesi, Alberto Feletti, Alfonso M Ferrara, Mariagiulia Anglani, Bruno Scarpa, Francesca Boaretto

J Neurosurg Sci· April 2021

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Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Francesca Marini, Francesca Giusti, Caterina Fossi, Federica Cioppi, Luisella Cianferotti, Francesca Boaretto

Endocrine· October 2018

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Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Francesca Marini, Francesca Giusti, Caterina Fossi, Federica Cioppi, Luisella Cianferotti, Francesca Boaretto

Endocrine· October 2018

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Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.
Francesca Giusti, Luisella Cianferotti, Francesca Boaretto, Filomena Cetani, Federica Cioppi

Endocrine· November 2017

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Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
Francesca Boaretto, Deborah Snijders, Cecilia Salvoro, Ambra Spalletta, Maria Luisa Mostacciuolo

J Mol Diagn· November 2016

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Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
Alfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, Silvia Rizzati, Irene Colombo, Francesca Boaretto

Cancer Res Treat· October 2016

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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, Valeria Crippa, Paola Rusmini, Francesca Boaretto

Hum Mol Genet· September 2016

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Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
Alberto Feletti, Mariagiulia Anglani, Bruno Scarpa, Francesca Schiavi, Francesca Boaretto

Neuro Oncol· July 2016

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Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.
Francesca Boaretto, Mario Cacciavillani, Maria Luisa Mostacciuolo, Ambra Spalletta, Giuseppe Piscosquito

Muscle Nerve· October 2015

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Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Giorgia Bergamin, Francesca Boaretto, Chiara Briani, Elena Pegoraro, Mario Cacciavillani

Neuromolecular Med· September 2014

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Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, Alessandra Gaiani, Francesca Boaretto

Neurobiol Aging· May 2014

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Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.
Giorgia Bergamin, Chiara Dalla Torre, Mario Cacciavillani, Marta Lucchetta, Francesca Boaretto

Muscle Nerve· January 2014

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A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.
Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, Francesca Boaretto, Denis Ciato

PLoS Genet· March 2013

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Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Li Yao, Francesca Schiavi, Alberto Cascon, Yuejuan Qin, Lucia Inglada-Pérez, Francesca Boaretto

JAMA· December 2010

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Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi

J Neurol Sci· July 2010

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Yuejuan Qin, Li Yao, Elizabeth E King, Kalyan Buddavarapu, Romina E Lenci, Francesca Boaretto

Nat Genet· March 2010

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Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
Pasquale Striano, Antonio Gambardella, Antonietta Coppola, Carlo Di Bonaventura, Giorgia Bovo, Francesca Boaretto

J Neurol· January 2008

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A new mutation in two siblings with cystinosis presenting with Bartter syndrome.
Marco Pennesi, Federico Marchetti, Sergio Crovella, Francesca Boaretto, Laura Travan

Pediatr Nephrol· February 2005

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Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Luca Rampoldi, Gianluca Caridi, Daniela Santon, Francesca Boaretto, Ilenia Bernascone

Hum Mol Genet· December 2003

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