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192 results for Gasparini,+Paolo

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Select record 21
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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Author / Creator:Xue, Yali ; Mezzavilla, Massimo ; Haber, Marc ; McCarthy, Shane ; Chen, Yuan ; Narasimhan, Vagheesh ; Gilly, Arthur ; Ayub, Qasim ; Colonna, Vincenza ; Southam, Lorraine ; Finan, Christopher ; Massaia, Andrea ; Chheda, Himanshu ; Palta, Priit ; Ritchie, Graham ; Asimit, Jennifer ; Dedoussis, George ; Gasparini, Paolo ; Palotie, Aarno ; Ripatti, Samuli ; Soranzo, Nicole ; Toniolo, Daniela ; Wilson, James F. ; Durbin, Richard ; Tyler-Smith, Chris ; Zeggini, Eleftheria
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-06, Vol.8 (1), p.15927-15927, Article 15927
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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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A Population-Based Approach to Study the Impact of PROP Perception on Food Liking in Populations along the Silk Road
Author / Creator:Robino, Antonietta ; Mezzavilla, Massimo ; Pirastu, Nicola ; Dognini, Maddalena ; Tepper, Beverly J. ; Gasparini, Paolo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e91716
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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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Insights into the Binding of Phenyltiocarbamide (PTC) Agonist to Its Target Human TAS2R38 Bitter Receptor
Author / Creator:Biarnés, Xevi ; Marchiori, Alessandro ; Giorgetti, Alejandro ; Lanzara, Carmela ; Gasparini, Paolo ; Carloni, Paolo ; Born, Stephan ; Brockhoff, Anne ; Behrens, Maik ; Meyerhof, Wolfgang
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-08, Vol.5 (8), p.e12394
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
Author / Creator:Spinazzola, Antonella ; Viscomi, Carlo ; Fernandez-Vizarra, Erika ; Carrara, Franco ; D'Adamo, Pio ; Calvo, Sarah ; Marsano, René Massimiliano ; Donnini, Claudia ; Weiher, Hans ; Strisciuglio, Pietro ; Parini, Rossella ; Sarzi, Emmanuelle ; Chan, Alicia ; DiMauro, Salvatore ; Rötig, Agnes ; Gasparini, Paolo ; Ferrero, Iliana ; Mootha, Vamsi K ; Tiranti, Valeria ; Zeviani, Massimo
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-05, Vol.38 (5), p.570-575
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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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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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Select record 29
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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 Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
Author / Creator:Musante, Luciana ; Costa, Paola ; Zanus, Caterina ; Faletra, Flavio ; Murru, Flora M. ; Bianco, Anna M. ; La Bianca, Martina ; Ragusa, Giulia ; Athanasakis, Emmanouil ; d’Adamo, Adamo P. ; Carrozzi, Marco ; Gasparini, Paolo
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-03, Vol.13 (3), p.500
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Regulatory evaluation of Glybera in Europe — two committees, one mission
Author / Creator:Melchiorri, Daniela ; Pani, Luca ; Gasparini, Paolo ; Cossu, Giulio ; Ancans, Janis ; Borg, John Joseph ; Drai, Catherine ; Fiedor, Piotr ; Flory, Egbert ; Hudson, Ian ; Leufkens, Hubert G. ; Müller-Berghaus, Jan ; Narayanan, Gopalan ; Neugebauer, Brigitte ; Pokrotnieks, Juris ; Robert, Jean-Louis ; Salmonson, Tomas ; Schneider, Christian K.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Drug discovery, 2013-09, Vol.12 (9), p.719-719
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Select record 32
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Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?
Author / Creator:Graham, Catherine ; Spedicati, Beatrice ; Pelliccione, Giulia ; Gasparini, Paolo ; Concas, Maria
Publisher:Switzerland: MDPI AG
Journal title:Foods, 2023-04, Vol.12 (9), p.1739
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Genetic structure in the Sherpa and neighboring Nepalese populations
Author / Creator:Cole, Amy M. ; Cox, Sean ; Jeong, Choongwon ; Petousi, Nayia ; Aryal, Dhana R. ; Droma, Yunden ; Hanaoka, Masayuki ; Ota, Masao ; Kobayashi, Nobumitsu ; Gasparini, Paolo ; Montgomery, Hugh ; Robbins, Peter ; Di Rienzo, Anna ; Cavalleri, Gianpiero L.
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2017-01, Vol.18 (1), p.102-102, Article 102
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Select record 34
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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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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Author / Creator:Rusconi, Daniela ; Negri, Gloria ; Colapietro, Patrizia ; Picinelli, Chiara ; Milani, Donatella ; Spena, Silvia ; Magnani, Cinzia ; Silengo, Margherita Cirillo ; Sorasio, Lorena ; Curtisova, Vaclava ; Cavaliere, Maria Luigia ; Prontera, Paolo ; Stangoni, Gabriela ; Ferrero, Giovanni Battista ; Biamino, Elisa ; Fischetto, Rita ; Piccione, Maria ; Gasparini, Paolo ; Salviati, Leonardo ; Selicorni, Angelo ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2015-06, Vol.134 (6), p.613-626
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Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking
Author / Creator:Pirastu, Nicola ; Kooyman, Maarten ; Traglia, Michela ; Robino, Antonietta ; Willems, Sara M. ; Pistis, Giorgio ; d’Adamo, Pio ; Amin, Najaf ; d’Eustacchio, Angela ; Navarini, Luciano ; Sala, Cinzia ; Karssen, Lennart C. ; van Duijn, Cornelia ; Toniolo, Daniela ; Gasparini, Paolo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e92065-e92065
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Select record 37
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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Author / Creator:Camaschella, Clara ; Roetto, Antonella ; Calì, Angelita ; De Gobbi, Marco ; Garozzo, Giovanni ; Carella, Massimo ; Majorano, Nunzia ; Totaro, Angela ; Gasparini, Paolo
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-05, Vol.25 (1), p.14-15
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Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways
Author / Creator:Crudele, Francesca ; Bianchi, Nicoletta ; Terrazzan, Anna ; Ancona, Pietro ; Frassoldati, Antonio ; Gasparini, Paolo ; D’Adamo, Adamo P. ; Papaioannou, Dimitrios ; Garzon, Ramiro ; Wójcicka, Anna ; Gaj, Paweł ; Jażdżewski, Krystian ; Palatini, Jeffrey ; Volinia, Stefano
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2023-03, Vol.12 (4), p.493
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Select record 39
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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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Select record 40
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
Author / Creator:Esko, Tõnu ; Mezzavilla, Massimo ; Nelis, Mari ; Borel, Christelle ; Debniak, Tadeusz ; Jakkula, Eveliina ; Julia, Antonio ; Karachanak, Sena ; Khrunin, Andrey ; Kisfali, Peter ; Krulisova, Veronika ; Aušrelé Kučinskiené, Zita ; Rehnström, Karola ; Traglia, Michela ; Nikitina-Zake, Liene ; Zimprich, Fritz ; Antonarakis, Stylianos E ; Estivill, Xavier ; Glavač, Damjan ; Gut, Ivo ; Klovins, Janis ; Krawczak, Michael ; Kučinskas, Vaidutis ; Lathrop, Mark ; Macek, Milan ; Marsal, Sara ; Meitinger, Thomas ; Melegh, Béla ; Limborska, Svetlana ; Lubinski, Jan ; Paolotie, Aarno ; Schreiber, Stefan ; Toncheva, Draga ; Toniolo, Daniela ; Wichmann, H-Erich ; Zimprich, Alexander ; Metspalu, Mait ; Gasparini, Paolo ; Metspalu, Andres ; D'Adamo, Pio
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.659-665
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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

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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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A Population-Based Approach to Study the Impact of PROP Perception on Food Liking in Populations along the Silk Road

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

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Insights into the Binding of Phenyltiocarbamide (PTC) Agonist to Its Target Human TAS2R38 Bitter Receptor

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

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

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

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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

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Regulatory evaluation of Glybera in Europe — two committees, one mission

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Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?

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Genetic structure in the Sherpa and neighboring Nepalese populations

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The Role of Knockout Olfactory Receptor Genes in Odor Discrimination

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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

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Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking

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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

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Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways

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

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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

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