Publications by authors named "Filomena Papa"

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Ocular surface microbiota in primary open angle glaucoma.
Davide Borroni, Francesco Lo Monaco, Silvia Ferraro, Cosimo Mazzotta, Marzia Settino, Filomena Tiziana Papa

Exp Eye Res· January 2026

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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Benoit Mazel, Julian Delanne, Aurore Garde, Caroline Racine, Ange-Line Bruel, Filomena Tiziana Papa

Am J Med Genet B Neuropsychiatr Genet· September 2024

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MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing.
Federico Gabrielli, Filomena Tiziana Papa, Fabio Di Pietro, Andreu Paytuví-Gallart, Daniel Julian

Int J Genomics· June 2024

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Topical Antiseptics in Minimizing Ocular Surface Bacterial Load Before Ophthalmic Surgery: A Randomized Controlled Trial.
Vito Romano, Mariantonia Ferrara, Francesca Gatti, Matteo Airaldi, Davide Borroni, Filomena Tiziana Papa

Am J Ophthalmol· May 2024

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Infectious Keratitis: Characterization of Microbial Diversity through Species Richness and Shannon Diversity Index.
Domenico Schiano-Lomoriello, Irene Abicca, Laura Contento, Federico Gabrielli, Cinzia Alfonsi, Filomena Tiziana Papa

Biomolecules· March 2024

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Combinatorial activation of the WNT-dependent fibrogenic program by distinct complement subunits in dystrophic muscle.
Francesca Florio, Sara Vencato, Filomena T Papa, Michela Libergoli, Eyemen Kheir

EMBO Mol Med· December 2023

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Ocular microbiome evaluation in dry eye disease and meibomian gland dysfunction: Values of variables.
Davide Borroni, Carlos Rocha de Lossada, Cosimo Mazzotta, Jose-María Sánchez-González, Filomena Papa

Exp Eye Res· November 2023

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Ocular Surface Microbiota in Naïve Keratoconus: A Multicenter Validation Study.
Carlos Rocha-de-Lossada, Cosimo Mazzotta, Federico Gabrielli, Filomena Tiziana Papa, Carmen Gómez-Huertas

J Clin Med· October 2023

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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita

Front Oncol· August 2021

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13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.
Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri

Genes (Basel)· August 2021

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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita

Front Oncol· May 2021

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AAV-mediated FOXG1 gene editing in human Rett primary cells.
Susanna Croci, Miriam Lucia Carriero, Katia Capitani, Sergio Daga, Francesco Donati, Filomena Tiziana Papa

Eur J Hum Genet· October 2020

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MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.
Annarita Giliberti, Aurora Currò, Filomena Tiziana Papa, Elisa Frullanti, Francesca Ariani

Eur J Med Genet· January 2020

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Analysis of the Phenotypes in the Rett Networked Database.
Elisa Frullanti, Filomena T Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev

Int J Genomics· March 2019

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Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Anna Maria Pinto, Filomena T Papa, Elisa Frullanti, Ilaria Meloni, Rossella Tita

Br J Haematol· February 2019

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Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Filomena T Papa, Maria M Mancardi, Elisa Frullanti, Chiara Fallerini, Veronica Della Chiara

Clin Dysmorphol· January 2018

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Engaging technology-resistant elderly people: Empirical evidence from an ICT-enabled social environment.
Filomena Papa, Michele Cornacchia, Bartolomeo Sapio, Enrico Nicolò

Inform Health Soc Care· January 2017

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Global profiling of alternative splicing events and gene expression regulated by hnRNPH/F.
Erming Wang, Vahid Aslanzadeh, Filomena Papa, Haiyan Zhu, Pierre de la Grange

PLoS One· June 2013

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p39, the primary activator for cyclin-dependent kinase 5 (Cdk5) in oligodendroglia, is essential for oligodendroglia differentiation and myelin repair.
Andrew N Bankston, Wenqi Li, Hui Zhang, Li Ku, Guanglu Liu, Filomena Papa

J Biol Chem· June 2013

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Investigation of modifier genes within copy number variations in Rett syndrome.
Rosangela Artuso, Filomena T Papa, Elisa Grillo, Mafalda Mucciolo, Dag H Yasui

J Hum Genet· July 2011

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Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
Paolo Frezzotti, Chiara Pescucci, Filomena Tiziana Papa, Michele Iester, Vincenzo Mittica

Br J Ophthalmol· May 2011

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3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.
Vera Uliana, Salvatore Grosso, Maddalena Cioni, Francesca Ariani, Filomena T Papa

Eur J Med Genet· October 2010

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Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.
Eleni Katzaki, Gilles Morin, Marzia Pollazzon, Filomena Tiziana Papa, Sabrina Buoni

Am J Med Genet A· July 2010

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Is HSD17B1 a new sex reversal gene in human?
Eleni Katzaki, Filomena Tiziana Papa, Mafalda Mucciolo, Vera Uliana, Alessandra Renieri

Mol Cell Endocrinol· December 2009

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14q12 Microdeletion syndrome and congenital variant of Rett syndrome.
Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, Filomena Tiziana Papa, Monika Cohen

Eur J Med Genet· September 2009

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