Publications by authors named "Alessandra Pelle"

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Identification of a robust DNA methylation signature for Fanconi anemia.
Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Camilla Cappelletti, Alessandra Pelle

Am J Hum Genet· November 2023

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Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.
Ilaria Persico, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini

Front Genet· September 2023

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Gingival Overgrowths Revealing Hamartoma Tumor Syndrome: Report of Novel Pathogenic Variants.
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, Roberta Zuntini, Monica Pentenero

Biomedicines· December 2022

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Simona Mellone, Chiara Puricelli, Denise Vurchio, Sara Ronzani, Simone Favini, Alessandra Pelle

Front Genet· August 2022

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Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.
Giorgia Mandrile, Alessandra Pelle, Veronica Sciannameo, Elisa Benetti, Maria Michela D'Alessandro

J Nephrol· April 2022

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Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Tiziana Vaisitti, Monica Sorbini, Martina Callegari, Silvia Kalantari, Valeria Bracciamà, Alessandra Pelle

J Nephrol· October 2021

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The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Mirco Dindo, Giorgia Mandrile, Carolina Conter, Rosa Montone, Daniela Giachino, Alessandra Pelle

Mol Genet Metab· June 2021

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A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.
Alessandra Pelle, Laura Pezzoli, Erika Apuril, Maria Iascone, Angelo Selicorni

Clin Dysmorphol· January 2021

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Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.
Alessandra Pelle, Piergiorgio Modena, Anna Cavallini, Angelo Selicorni

Clin Dysmorphol· April 2020

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Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Sander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, Florian Erger, Jaap W Groothoff, Alessandra Pelle

Kidney Int· December 2019

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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
Alessandra Pelle, Alessandra Cuccurullo, Cecilia Mancini, Regina Sebastiano, Giovanni Stallone

J Nephrol· April 2017

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