Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

por Cocca, Massimiliano, Bedognetti, Davide, La Bianca, Martina, Gasparini, Paolo, Girotto, Giorgia
Publicado 2016

Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia

por Piatti, Gioia, Ambrosetti, Umberto, Aldè, Mirko, Girotto, Giorgia, Concas, Maria P., Torretta, Sara
Publicado 2022

Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals

por Concas, Maria Pina, Morgan, Anna, Tesolin, Paola, Santin, Aurora, Girotto, Giorgia, Gasparini, Paolo
Publicado 2022

Genetic landscape of populations along the Silk Road: admixture and migration patterns

por Mezzavilla, Massimo, Vozzi, Diego, Pirastu, Nicola, Girotto, Giorgia, d’Adamo, Pio, Gasparini, Paolo, Colonna, Vincenza
Publicado 2014

Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function

por Girotto, Giorgia, Vuckovic, Dragana, Buniello, Annalisa, Lorente-Cánovas, Beatriz, Lewis, Morag, Gasparini, Paolo, Steel, Karen P.
Publicado 2014

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene

por Tesolin, Paola, Morgan, Anna, Notarangelo, Michela, Ortore, Rocco Pio, Concas, Maria Pina, Notarangelo, Angelantonio, Girotto, Giorgia
Publicado 2021

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

por Morgan, Anna, Faletra, Flavio, Severi, Giulia, La Bianca, Martina, Licchetta, Laura, Gasparini, Paolo, Graziano, Claudio, Girotto, Giorgia
Publicado 2021

Genetic Dissection of Temperament Personality Traits in Italian Isolates

por Concas, Maria Pina, Minelli, Alessandra, Aere, Susanna, Morgan, Anna, Tesolin, Paola, Gasparini, Paolo, Gennarelli, Massimo, Girotto, Giorgia
Publicado 2021

Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: Findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR con...

por Harrison, Sean, Lewis, Sarah J., Hall, Amanda J., Vuckovic, Dragana, Girotto, Giorgia, Martin, Richard M., Adams, Josephine C.
Publicado 2015

Impact of cultural and genetic structure on food choices along the Silk Road

por Aneli, Serena, Mezzavilla, Massimo, Bortolini, Eugenio, Pirastu, Nicola, Girotto, Giorgia, Spedicati, Beatrice, Berchialla, Paola, Gasparini, Paolo, Pagani, Luca
Publicado 2022

Odontostomatological Traits in North-Eastern Italy’s Isolated Populations: An Epidemiological Cross-Sectional Study

por Luppieri, Valentina, Pecori, Alessandro, Spedicati, Beatrice, Schito, Riccardo, Pozzan, Lucia, Santin, Aurora, Girotto, Giorgia, Cadenaro, Milena, Concas, Maria Pina
Publicado 2023

Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations

por Nardone, Giuseppe Giovanni, Spedicati, Beatrice, Concas, Maria Pina, Santin, Aurora, Morgan, Anna, Mazzetto, Lorenzo, Battaglia-Parodi, Maurizio, Girotto, Giorgia
Publicado 2023

The Role of Knockout Olfactory Receptor Genes in Odor Discrimination

por Concas, Maria Pina, Cocca, Massimiliano, Francescatto, Margherita, Battistuzzi, Thomas, Spedicati, Beatrice, Feresin, Agnese, Morgan, Anna, Gasparini, Paolo, Girotto, Giorgia
Publicado 2021

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

por Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia
Publicado 2022

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

por Zonta, Francesco, Girotto, Giorgia, Buratto, Damiano, Crispino, Giulia, Morgan, Anna, Abdulhadi, Khalid, Alkowari, Moza, Badii, Ramin, Gasparini, Paolo, Mammano, Fabio
Publicado 2015

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

por Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo
Publicado 2019

Functional analysis of candidate genes from genome-wide association studies of hearing

por Ingham, Neil J., Rook, Victoria, Di Domenico, Francesca, James, Elysia, Lewis, Morag A., Girotto, Giorgia, Buniello, Annalisa, Steel, Karen P.
Publicado 2020

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

por Lenarduzzi, Stefania, Spedicati, Beatrice, Alessandrini, Beatrice, Tesolin, Paola, Paldino, Alessia, Gigli, Marta, Sinagra, Gianfranco, Gasparini, Paolo, Ferro, Matteo Dal, Girotto, Giorgia
Publicado 2023

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

por Spedicati, Beatrice, Cocca, Massimiliano, Palmisano, Roberto, Faletra, Flavio, Barbieri, Caterina, Francescatto, Margherita, Mezzavilla, Massimo, Morgan, Anna, Pelliccione, Giulia, Gasparini, Paolo, Girotto, Giorgia
Publicado 2021

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

por Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia
Publicado 2023