Publications by authors named "Federica Natacci"

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Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.
Giulia Rodari, Valeria Citterio, Masami Ikehata, Deborah Mattinzoli, Giulietta Scuvera, Federica Natacci

Ital J Pediatr· March 2025

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Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.
Camilla Meossi, Alessia Carrer, Claudia Ciaccio, Laura Pezzoli, Lidia Pezzani, Federica Natacci

Genes (Basel)· November 2024

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The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, Federico Grilli, Giulietta Scuvera, Federica Natacci

Ital J Pediatr· September 2024

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Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Elisabetta Di Fede, Antonella Lettieri, Esi Taci, Silvia Castiglioni, Stefano Rebellato, Federica Natacci

Hum Genet· June 2024

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Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Federica Natacci

Hum Genet· June 2024

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Optical coherence tomography angiography findings in Williams-Beuren syndrome.
Marco Nassisi, Claudia Mainetti, Andrea Sperti, Guido Galmozzi, Andrea Aretti, Federica Natacci

Graefes Arch Clin Exp Ophthalmol· April 2024

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Ocular features in Williams-Beuren syndrome: a review of the literature.
Marco Nassisi, Claudia Mainetti, Andrea Aretti, Andrea Sperti, Valeria Nicotra, Federica Natacci

Curr Opin Ophthalmol· November 2023

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New insights into the molecular basis of spinal neurofibromatosis type 1.
Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni, Rosina Paterra, Federica Natacci

Eur J Hum Genet· August 2023

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The Contribution of Oxidative Stress to -Altered Tumors.
Elisabetta Kuhn, Federica Natacci, Massimo Corbo, Luigi Pisani, Stefano Ferrero

Antioxidants (Basel)· August 2023

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Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.
Donatella Milani, Alessia Dolci, Ilaria Muller, Maria Angela Pavesi, Letterio Runza, Federica Natacci

Endocrine· July 2023

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Federica Natacci

Cancers (Basel)· December 2022

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Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Luisa Ronzoni, Simona Boito, Camilla Meossi, Claudia Cesaretti, Berardo Rinaldi, Federica Natacci

Prenat Diagn· November 2022

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Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.
Berardo Rinaldi, Claudia Cesaretti, Simona Boito, Roberta Villa, Silvana Guerneri, Federica Natacci

Prenat Diagn· June 2022

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Expanding the Molecular Spectrum of Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Federica Natacci

Int J Mol Sci· May 2022

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Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.
Raffaele Falsaperla, Valentina Giacchi, Maria Giovanna Aguglia, Janette Mailo, Maria Grazia Longo, Federica Natacci

J Pediatr Genet· September 2021

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Simultaneous Detection of , , , and Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Federica Natacci

Genes (Basel)· June 2020

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Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
Viviana Tritto, Luca Ferrari, Silvia Esposito, Paola Zuccotti, Donatella Bianchessi, Federica Natacci

Genes (Basel)· November 2019

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Giulia Melloni, Marica Eoli, Claudia Cesaretti, Donatella Bianchessi, Maria Cristina Ibba, Federica Natacci

Cancers (Basel)· November 2019

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Alterations are Linked to Increased HER2 Expression in Breast Cancer-Letter.
Donatella Gambini, Federica Natacci, Claudia Cesaretti, Nicola Fusco

Cancer Prev Res (Phila)· March 2019

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco, Federica Natacci

Hum Mutat· February 2019

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Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1).
Marcello Filopanti, Uberta Verga, Fabio Massimo Ulivieri, Claudia Giavoli, Giulia Rodari, Federica Natacci

Calcif Tissue Int· February 2019

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Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Arianna Tucci, Veronica Saletti, Francesca Menni, Claudia Cesaretti, Giulietta Scuvera, Federica Natacci

J Hum Genet· March 2018

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Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo

Ital J Pediatr· January 2018

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The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Arianna Tucci, Veronica Saletti, Francesca Menni, Claudia Cesaretti, Giulietta Scuvera, Federica Natacci

J Hum Genet· November 2017

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COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.
Silvia Galbiati, Alessandra Monguzzi, Francesco Damin, Nadia Soriani, Marianna Passiu, Federica Natacci

J Med Genet· July 2016

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