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73 results for Girotto,+Giorgia

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Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct
Author / Creator:Bernardinelli, Emanuele ; Liuni, Raffaella ; Jamontas, Rapolas ; Tesolin, Paola ; Morgan, Anna ; Girotto, Giorgia ; Roesch, Sebastian ; Dossena, Silvia
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2025-03, Vol.31 (1), p.111-21, Article 111
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A bird’s-eye view of Italian genomic variation through whole-genome sequencing
Author / Creator:Cocca, Massimiliano ; Barbieri, Caterina ; Concas, Maria Pina ; Robino, Antonietta ; Brumat, Marco ; Gandin, Ilaria ; Trudu, Matteo ; Sala, Cinzia Felicita ; Vuckovic, Dragana ; Girotto, Giorgia ; Matullo, Giuseppe ; Polasek, Ozren ; Kolčić, Ivana ; Gasparini, Paolo ; Soranzo, Nicole ; Toniolo, Daniela ; Mezzavilla, Massimo
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.435-444
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Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant
Author / Creator:Capaci, Valeria ; Zupin, Luisa ; Magistrati, Martina ; Bonati, Maria Teresa ; Celsi, Fulvio ; Marrone, Irene ; Baldo, Francesco ; Ura, Blendi ; Spedicati, Beatrice ; Morgan, Anna ; Bruno, Irene ; Zeviani, Massimo ; Dallabona, Cristina ; Girotto, Giorgia ; Magnolato, Andrea
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-04, Vol.26 (8), p.3670
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Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
Author / Creator:Spedicati, Beatrice ; Cocca, Massimiliano ; Palmisano, Roberto ; Faletra, Flavio ; Barbieri, Caterina ; Francescatto, Margherita ; Mezzavilla, Massimo ; Morgan, Anna ; Pelliccione, Giulia ; Gasparini, Paolo ; Girotto, Giorgia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1272-1281
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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
Author / Creator:Espino Guarch, Meritxell ; Font-Llitjós, Mariona ; Murillo-Cuesta, Silvia ; Errasti- Murugarren, Ekaitz ; Celaya, Adelaida M ; Girotto, Giorgia ; Vuckovic, Dragana ; Mezzavilla, Massimo ; Vilches, Clara ; Bodoy, Susanna ; Sahún, Ignasi ; González, Laura ; Prat, Esther ; Zorzano, Antonio ; Dierssen, Mara ; Varela-Nieto, Isabel ; Gasparini, Paolo ; Palacín, Manuel ; Nunes, Virginia
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2018-01, Vol.7
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Author / Creator:Morgan, Anna ; Vuckovic, Dragana ; Krishnamoorthy, Navaneethakrishnan ; Rubinato, Elisa ; Ambrosetti, Umberto ; Castorina, Pierangela ; Franzè, Annamaria ; Vozzi, Diego ; La Bianca, Martina ; Cappellani, Stefania ; Di Stazio, Mariateresa ; Gasparini, Paolo ; Girotto, Giorgia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.70-79
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Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders
Author / Creator:Tesolin, Paola ; Santin, Aurora ; Morgan, Anna ; Lenarduzzi, Stefania ; Rubinato, Elisa ; Girotto, Giorgia ; Spedicati, Beatrice
Publisher:Basel: MDPI AG
Journal title:Audiology research (Pavia, Italy), 2023-12, Vol.13 (6), p.989-995
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Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
Author / Creator:Girotto, Giorgia ; Abdulhadi, Khalid ; Buniello, Annalisa ; Vozzi, Diego ; Licastro, Danilo ; d'Eustacchio, Angela ; Vuckovic, Dragana ; Alkowari, Moza Khalifa ; Steel, Karen P. ; Badii, Ramin ; Gasparini, Paolo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-12, Vol.8 (12), p.e80323
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Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of ACE2, IFI44, and NDUFAF4 in Long-Lasting Olfactory Dysfunction
Author / Creator:Spedicati, Beatrice ; Pecori, Alessandro ; Concas, Maria Pina ; Santin, Aurora ; Ruberto, Romina ; Nardone, Giuseppe Giovanni ; D’Alessandro, Andrea ; Tirelli, Giancarlo ; Boscolo-Rizzo, Paolo ; Girotto, Giorgia
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2025-01, Vol.15 (1), p.56
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In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
Author / Creator:Feresin, Agnese ; Lefebvre, Mathilde ; Sjøstrøm, Emilie ; Zanus, Caterina ; Paccagnella, Elisa ; Bruno, Irene ; Valencic, Erica ; Morgan, Anna ; Tommasini, Alberto ; Thauvin, Christel ; Bayat, Allan ; Girotto, Giorgia ; Musante, Luciana
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2024-12, Vol.14 (12), p.1626
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The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms
Author / Creator:Santin, Aurora ; Spedicati, Beatrice ; Pecori, Alessandro ; Nardone, Giuseppe Giovanni ; Concas, Maria Pina ; Piatti, Gioia ; Menini, Anna ; Tirelli, Giancarlo ; Boscolo-Rizzo, Paolo ; Girotto, Giorgia
Publisher:Switzerland: MDPI AG
Journal title:Life (Basel, Switzerland), 2024-02, Vol.14 (2), p.219
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Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function
Author / Creator:Girotto, Giorgia ; Vuckovic, Dragana ; Buniello, Annalisa ; Lorente-Cánovas, Beatriz ; Lewis, Morag ; Gasparini, Paolo ; Steel, Karen P.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e85352
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Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort
Author / Creator:Pecori, Alessandro ; Luppieri, Valentina ; Santin, Aurora ; Spedicati, Beatrice ; Zampieri, Stefania ; Cadenaro, Milena ; Girotto, Giorgia ; Concas, Maria Pina
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-01, Vol.12 (2), p.304
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Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals
Author / Creator:Concas, Maria Pina ; Morgan, Anna ; Tesolin, Paola ; Santin, Aurora ; Girotto, Giorgia ; Gasparini, Paolo
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2022-03, Vol.11 (5), p.735
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The Role of Knockout Olfactory Receptor Genes in Odor Discrimination
Author / Creator:Concas, Maria Pina ; Cocca, Massimiliano ; Francescatto, Margherita ; Battistuzzi, Thomas ; Spedicati, Beatrice ; Feresin, Agnese ; Morgan, Anna ; Gasparini, Paolo ; Girotto, Giorgia
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-04, Vol.12 (5), p.631
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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
Author / Creator:Spedicati, Beatrice ; Santin, Aurora ; Nardone, Giuseppe Giovanni ; Rubinato, Elisa ; Lenarduzzi, Stefania ; Graziano, Claudio ; Garavelli, Livia ; Miccoli, Sara ; Bigoni, Stefania ; Morgan, Anna ; Girotto, Giorgia
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2023-02, Vol.11 (3), p.703
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Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population
Author / Creator:Mezzavilla, Massimo ; Cocca, Massimiliano ; Maisano Delser, Pierpaolo ; Badii, Ramin ; Abbaszadeh, Fatemeh ; Hadi, Khalid Abdul ; Giorgia, Girotto ; Gasparini, Paolo
Publisher:London: BioMed Central Ltd
Journal title:BMC genetics, 2022-09, Vol.23 (1), p.1-73, Article 73
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Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort
Author / Creator:Santin, Aurora ; Spedicati, Beatrice ; Morgan, Anna ; Lenarduzzi, Stefania ; Tesolin, Paola ; Nardone, Giuseppe Giovanni ; Mazzà, Daniela ; Di Lorenzo, Giovanni ; Romano, Federico ; Buonomo, Francesca ; Mangogna, Alessandro ; Concas, Maria Pina ; Zito, Gabriella ; Ricci, Giuseppe ; Girotto, Giorgia
Publisher:Basel: MDPI AG
Journal title:Biomedicines, 2023-07, Vol.11 (8), p.2122
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Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation
Author / Creator:Ciorba, Andrea ; Corazzi, Virginia ; Melegatti, Michela ; Morgan, Anna ; Pelliccione, Giulia ; Girotto, Giorgia ; Bigoni, Stefania
Publisher:AVES
Journal title:The journal of international advanced otology, 2021-01, Vol.17 (1), p.81-83
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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
Author / Creator:Palombo, Flavia ; Al-Wardy, Nadia ; Ruscone, Guido Alberto Gnecchi ; Oppo, Manuela ; Kindi, Mohammed Nasser Al ; Angius, Andrea ; Al Lamki, Khalsa ; Girotto, Giorgia ; Giangregorio, Tania ; Benelli, Matteo ; Magi, Alberto ; Seri, Marco ; Gasparini, Paolo ; Cucca, Francesco ; Sazzini, Marco ; Al Khabori, Mazin ; Pippucci, Tommaso ; Romeo, Giovanni
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-02, Vol.62 (2), p.259-264
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Showing 1 to 20 of 73 results

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Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

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A bird’s-eye view of Italian genomic variation through whole-genome sequencing

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Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant

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

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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

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Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

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Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

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Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of ACE2, IFI44, and NDUFAF4 in Long-Lasting Olfactory Dysfunction

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In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder

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The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms

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

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Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort

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

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The Role of Knockout Olfactory Receptor Genes in Odor Discrimination

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

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Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population

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Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

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Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

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