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  1. 1
    Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review

    Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review 由 Giovanni Vitale, Marco Sciveres, Claudia Mandato, Pio D’Adamo, Angelo Di Giorgio

    出版 2025
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  2. 2
    Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of <i>CNOT1</i> gene with response to the treatment

    Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of <i>CNOT1</i> gene with response to the treatment 由 Ronald Moura, Alessandra Pontillo, Pio D’Adamo, Nicola Pirastu, Antonio Campos Coelho, Sérgio Crovella

    出版 2014
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  3. 3
    FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

    FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency 由 Daniele Ghezzi, Ann Saada, Pio D’Adamo, Erika Fernández‐Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani

    出版 2008
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  4. 4
    Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

    Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 由 Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D’Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

    出版 2010
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  5. 5
    Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

    Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase 由 Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan, Eman Bakhsh, P Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D’Adamo, Paolo Gasparini, Massimo Zeviani

    出版 2008
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  6. 6
    Notch Signaling Regulation in Autoinflammatory Diseases

    Notch Signaling Regulation in Autoinflammatory Diseases 由 Rossella Gratton, Paola Maura Tricarico, Pio D’Adamo, Anna Monica Bianco, Ronald Moura, Almerinda Agrelli, Lucas André Cavalcanti Brandão, Luisa Zupin, Sérgio Crovella

    出版 2020
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  7. 7
    Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset

    Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset 由 Chiara Agnoletto, Fabio Corrà, Linda Minotti, Federica Baldassari, Francesca Crudele, William Joseph James Cook, Gianpiero Di Leva, Pio D’Adamo, Paolo Gasparini, Stefano Volinia

    出版 2019
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  8. 8
    Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction

    Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction 由 Gabriele Stocco, Anna Maria Raspolli Galletti, Marianna Lucafò, Nagua Giurici, Debora Curci, Sara Solidoro, Valentina Kiren, Anna Monica Bianco, Egidio Barbi, Pio D’Adamo

    出版 2025
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  9. 9
    Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

    Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations 由 Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni Battista Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi, Pio D’Adamo

    出版 2014
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  10. 10
    Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

    Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families 由 Paolo Gresele, Emanuela Falcinelli, Silvia Giannini, Pio D’Adamo, Angela D’Eustacchio, Teresa Corazzi, Anna Maria Mezzasoma, Filomena Di Bari, Giuseppe Guglielmini, Luca Cecchetti, Patrizia Noris, Carlo L. Balduini, Anna Savoia

    出版 2009
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  11. 11
    Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa

    Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa 由 Carlos André dos Santos-Silva, Paola Maura Tricarico, Lívia Maria Batista Vilela, Ricardo Salas Roldan-Filho, Vinícius Costa Amador, Pio D’Adamo, Mireli de Santana Rêgo, Ana Maria Benko‐Iseppon, Sérgio Crovella

    出版 2021
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  12. 12
    Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking

    Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking 由 Nicola Pirastu, Maarten Kooyman, Michela Traglia, Antonietta Robino, Sara M. Willems, Giorgio Pistis, Pio D’Adamo, Najaf Amin, Angela D’Eustacchio, Luciano Navarini, Cinzia Sala, Lennart C. Karssen, Cornelia M. van Duijn, Daniela Toniolo, Paolo Gasparini

    出版 2014
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  13. 13
    Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis

    Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations... 由 Lucas André Cavalcanti Brandão, Ronald Moura, Bruno Rodrigo Assunção, Cecilia Del Vecchio, Pio D’Adamo, Gudrun Ratzinger, Barbara Böckle, Nina Frischhut, Wolfram Jaschke, Matthias Schmuth, Muhammad Suleman, Angelo Valerio Marzano, Chiara Moltrasio, Paola Maura Tricarico, Sérgio Crovella

    出版 2025
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  14. 14
    A loss‐of‐function <scp><i>NCSTN</i></scp> mutation associated with familial <scp>Dowling Degos disease</scp> and hidradenitis suppurativa

    A loss‐of‐function <scp><i>NCSTN</i></scp> mutation associated with familial <scp>Dowling Degos disease</scp> and hidradenitis suppurativa 由 Ana Sofia Lima Estevão de Oliveira, Roberta Cardoso de Siqueira, Cécile Nait‐Meddour, Paola Maura Tricarico, Ronald Moura, Almerinda Agrelli, Pio D’Adamo, Stéphane Jamain, Sérgio Crovella, Maria de Fátima Medeiros Brito, Michele Boniotto, Lucas André Cavalcanti Brandão

    出版 2023
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  15. 15
    Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

    Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways 由 Giorgia Girotto, Nicola Pirastu, Rossella Sorice, Ginevra Biino, Harry Campbell, Pio D’Adamo, N D Hastie, Teresa Nutile, Ozren Polašek, Laura Portas, Igor Rudan, Sheila Ulivi, Tatijana Zemunik, Alan F. Wright, Marina Ciullo, Caroline Hayward, Mario Pirastu, Paolo Gasparini

    出版 2011
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  16. 16
    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein 由 Valeria Tiranti, Pio D’Adamo, Egill Briem, Giovanfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, María Teresa García‐Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi‐Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani

    出版 2004
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  17. 17
    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria 由 Mariona Font, Lídia Feliubadaló, Xavier Estivill, Virginia Nunes, Eliahu Golomb, Yitshak Kreiss, Elon Pras, Luigi Bisceglia, Pio D’Adamo, Leopoldo Zelante, Paolo Gasparini, Maria Teresa Bassi, Alfred L. George, Marta Manzoni, Mirko Riboni, Andrea Ballabio, Giuseppe Borsani, Núria Reig, Esperanza Fernández, António Zorzano, Joan Bertran, Manuel Palacı́n

    出版 2001
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  18. 18
    Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

    Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 由 Valério Carelli, Pio D’Adamo, Maria Lucia Valentino, Chiara La Morgia, Fred N. Ross‐Cisneros, Leonardo Caporali, Alessandra Maresca, Paola Loguercio Polosa, Piero Barboni, A. De Negri, Federico Sadun, Rustum Karanjia, Solange Rios Salomão, Adriana Berezovsky, Filipe Chicani, Milton Moraes, Milton Moraes Filho, Rubens Belfort, Alfredo A. Sadun

    出版 2015
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  19. 19
    Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

    Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 由 Luca Giordano, Stefania Deceglie, Pio D’Adamo, Maria Lucia Valentino, Chiara La Morgia, Flavio Fracasso, Marina Roberti, Marianna Cappellari, Giuseppe Petrosillo, Stefano Ciaravolo, Daniela Moura Parente, Carla Giordano, Alessandra Maresca, Luisa Iommarini, Valentina Del Dotto, Anna Ghelli, Solange Rios Salomão, Adriana Berezovsky, Rubens Belfort, Alfredo A. Sadun, Valério Carelli, Paola Loguercio Polosa, Palmiro Cantatore

    出版 2015
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  20. 20
    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 由 Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B., Pio d'Adamo, Adamo, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

    出版 2021
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