GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
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, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna
Published in Haematologica (Roma) (01.03.2022)
Published in Haematologica (Roma) (01.03.2022)
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MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype
Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D’Adamo, Adamo Pio
Published in Journal of pediatric gastroenterology and nutrition (01.05.2022)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2022)
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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations
O'Seaghdha, Conall M, Wu, Hongsheng, Yang, Qiong, Kapur, Karen, Guessous, Idris, Zuber, Annie Mercier, Köttgen, Anna, Stoudmann, Candice, Teumer, Alexander, Kutalik, Zoltán, Mangino, Massimo, Dehghan, Abbas, Zhang, Weihua, Eiriksdottir, Gudny, Li, Guo, Tanaka, Toshiko, Portas, Laura, Lopez, Lorna M, Hayward, Caroline, Lohman, Kurt, Matsuda, Koichi, Padmanabhan, Sandosh, Firsov, Dmitri, Sorice, Rossella, Ulivi, Sheila, Brockhaus, A Catharina, Kleber, Marcus E, Mahajan, Anubha, Ernst, Florian D, Gudnason, Vilmundur, Launer, Lenore J, Mace, Aurelien, Boerwinckle, Eric, Arking, Dan E, Tanikawa, Chizu, Nakamura, Yusuke, Brown, Morris J, Gaspoz, Jean-Michel, Theler, Jean-Marc, Siscovick, David S, Psaty, Bruce M, Bergmann, Sven, Vollenweider, Peter, Vitart, Veronique, Wright, Alan F, Zemunik, Tatijana, Boban, Mladen, Kolcic, Ivana, Navarro, Pau, Brown, Edward M, Estrada, Karol, Ding, Jingzhong, Harris, Tamara B, Bandinelli, Stefania, Hernandez, Dena, Singleton, Andrew B, Girotto, Giorgia, Ruggiero, Daniela, d'Adamo, Adamo Pio, Robino, Antonietta, Meitinger, Thomas, Meisinger, Christa, Davies, Gail, Starr, John M, Chambers, John C, Boehm, Bernhard O, Winkelmann, Bernhard R, Huang, Jie, Murgia, Federico, Wild, Sarah H, Campbell, Harry, Morris, Andrew P, Franco, Oscar H, Hofman, Albert, Uitterlinden, Andre G, Rivadeneira, Fernando, Völker, Uwe, Hannemann, Anke, Biffar, Reiner, Hoffmann, Wolfgang, Shin, So-Youn, Lescuyer, Pierre, Henry, Hughes, Schurmann, Claudia, Munroe, Patricia B, Gasparini, Paolo, Pirastu, Nicola, Ciullo, Marina, Gieger, Christian, März, Winfried, Lind, Lars, Spector, Tim D, Smith, Albert V, Rudan, Igor, Wilson, James F, Polasek, Ozren, Deary, Ian J, Pirastu, Mario, Ferrucci, Luigi, Liu, Yongmei
Published in PLoS genetics (01.09.2013)
Published in PLoS genetics (01.09.2013)
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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
Pansuriya, Twinkal C, van Eijk, Ronald, d'Adamo, Pio, van Ruler, Maayke A J H, Kuijjer, Marieke L, Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G, Verbeke, Sofie L J, Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H, Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M, Vikkula, Miikka, Kurek, Kyle C, Szuhai, Karoly, French, Pim J, Bovée, Judith V M G
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Uziel, Graziella, Ferrero, Ileana, Horvath, Rita, Lochmüller, Hanns, Strom, Tim M, Invernizzi, Federica, Goffrini, Paola, Gasparini, Paolo, Zeviani, Massimo, Klopstock, Thomas, Prokisch, Holger, Ghezzi, Daniele, D'Adamo, Pio
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
Zeviani, Massimo, Ghezzi, Daniele, Arzuffi, Paola, Zordan, Mauro, Da Re, Caterina, Lamperti, Costanza, Benna, Clara, D'Adamo, Pio, Diodato, Daria, Costa, Rodolfo, Mariotti, Caterina, Uziel, Graziella, Smiderle, Cristina
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion
Carelli, Valerio, d'Adamo, Pio, Valentino, Maria Lucia, La Morgia, Chiara, Ross-Cisneros, Fred N, Caporali, Leonardo, Maresca, Alessandra, Loguercio Polosa, Paola, Barboni, Piero, De Negri, Annamaria, Sadun, Federico, Karanjia, Rustum, Salomao, Solange R, Berezovsky, Adriana, Chicani, Filipe, Moraes, Milton, Moraes Filho, Milton, Belfort, Jr, Rubens, Sadun, Alfredo A
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Genetic structure of Europeans: a view from the North-East
Nelis, Mari, Esko, Tõnu, Mägi, Reedik, Zimprich, Fritz, Zimprich, Alexander, Toncheva, Draga, Karachanak, Sena, Piskácková, Tereza, Balascák, Ivan, Peltonen, Leena, Jakkula, Eveliina, Rehnström, Karola, Lathrop, Mark, Heath, Simon, Galan, Pilar, Schreiber, Stefan, Meitinger, Thomas, Pfeufer, Arne, Wichmann, H-Erich, Melegh, Béla, Polgár, Noémi, Toniolo, Daniela, Gasparini, Paolo, D'Adamo, Pio, Klovins, Janis, Nikitina-Zake, Liene, Kucinskas, Vaidutis, Kasnauskiene, Jūrate, Lubinski, Jan, Debniak, Tadeusz, Limborska, Svetlana, Khrunin, Andrey, Estivill, Xavier, Rabionet, Raquel, Marsal, Sara, Julià, Antonio, Antonarakis, Stylianos E, Deutsch, Samuel, Borel, Christelle, Attar, Homa, Gagnebin, Maryline, Macek, Milan, Krawczak, Michael, Remm, Maido, Metspalu, Andres
Published in PloS one (08.05.2009)
Published in PloS one (08.05.2009)
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Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy
Tepper, Beverly J., Koelliker, Yvonne, Zhao, Liqiang, Ullrich, Natalia V., Lanzara, Carmela, D'Adamo, Pio, Ferrara, Antonella, Ulivi, Sheila, Esposito, Laura, Gasparini, Paolo
Published in Obesity (Silver Spring, Md.) (01.10.2008)
Published in Obesity (Silver Spring, Md.) (01.10.2008)
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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase
Massa, Valeria, Fernandez-Vizarra, Erika, Alshahwan, Saad, Bakhsh, Eman, Goffrini, Paola, Ferrero, Ileana, Mereghetti, Paolo, D'Adamo, Pio, Gasparini, Paolo, Zeviani, Massimo
Published in American journal of human genetics (01.06.2008)
Published in American journal of human genetics (01.06.2008)
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Neuron-Derived Extracellular Vesicles miRNA Profiles Identify Children Who Experience Adverse Events after Ketamine Administration for Procedural Sedation
Lucafò, Marianna, Bidoli, Carlotta, Franzin, Martina, Eitan, Erez, Rau, Sara, Amaddeo, Alessandro, Fachin, Alice, d'Adamo, Adamo Pio, Decorti, Giuliana, Stocco, Gabriele, Barbi, Egidio, Cozzi, Giorgio
Published in Clinical pharmacology and therapeutics (20.08.2024)
Published in Clinical pharmacology and therapeutics (20.08.2024)
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
Marsano, René Massimiliano, Rötig, Agnes, Calvo, Sarah, Fernandez-Vizarra, Erika, Sarzi, Emmanuelle, Donnini, Claudia, Chan, Alicia, Carrara, Franco, Strisciuglio, Pietro, Spinazzola, Antonella, Viscomi, Carlo, D'Adamo, Pio, Parini, Rossella, DiMauro, Salvatore, Mootha, Vamsi K, Ferrero, Iliana, Tiranti, Valeria, Weiher, Hans, Gasparini, Paolo, Zeviani, Massimo
Published in Nature genetics (01.05.2006)
Published in Nature genetics (01.05.2006)
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Systematic analysis of factors that improve homologous direct repair
Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio
Published in PloS one (05.03.2021)
Published in PloS one (05.03.2021)
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Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological
Biino, Ginevra, Gasparini, Paolo, D'Adamo, Pio, Ciullo, Marina, Nutile, Teresa, Toniolo, Daniela, Sala, Cinzia, Minelli, Cosetta, Gögele, Martin, Balduini, Carlo L.
Published in British journal of haematology (01.05.2012)
Published in British journal of haematology (01.05.2012)
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Perry, John R. B., Ferreira, Teresa, Chasman, Daniel I., Esko, Tõnu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., Porcu, Eleonora, Teumer, Alexander, Tikkanen, Emmi, Hottenga, Jouke-Jan, Pers, Tune H., Yerges-Armstrong, Laura M., Hua Zhao, Jing, Andrulis, Irene L., Anton-Culver, Hoda, Benitez, Javier, Blomqvist, Carl, Bolla, Manjeet K., Brenner, Hermann, Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collée, J. Margriet, Davey Smith, George, Demerath, Ellen W., Dieffenbach, Aida K., Eriksson, Johan G., Flyger, Henrik, Franke, Lude, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guénel, Pascal, Guo, Suiqun, Hall, Per, Hartman, Catharina A., Heath, Andrew C., Hofman, Albert, Hooning, Maartje J., Hu, Frank B., Karasik, David, Kiel, Douglas P., Knight, Julia A., Kutalik, Zoltan, Lambrechts, Diether, Lindblom, Annika, Mägi, Reedik, Mannermaa, Arto, Martin, Nicholas G., Masson, Gisli, McArdle, Patrick F., Mihailov, Evelin, Nohr, Ellen A., Oostra, Ben A., Peacock, Munro, Peterlongo, Paolo, Peto, Julian, Postma, Dirkje S., Radice, Paolo, Rivadeneira, Fernando, Rose, Lynda M., Rudolph, Anja, Schlessinger, David, Sovio, Ulla, Tyrer, Jonathan, Vollenweider, Peter, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Wright, Margaret J., Econs, Michael J., Loos, Ruth J. F., McCarthy, Mark I., Montgomery, Grant W., Rice, John P., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Alizadeh, Behrooz Z., Bergmann, Sven, Boerwinkle, Eric, Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Järvelin, Marjo-Riitta, Kraft, Peter, Ridker, Paul M., Snieder, Harold, Sørensen, Thorkild I. A., Spector, Tim D., Uitterlinden, André G., Zygmunt, Marek, Murray, Anna, Ong, Ken K.
Published in Nature (London) (02.10.2014)
Published in Nature (London) (02.10.2014)
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MYO5B Gene Mutations
Matarazzo, Lorenza, Bianco, Anna Monica, Athanasakis, Emmanouil, Serveres, Marco, Francalanci, Paola, Cenacchi, Giovanna, Maggiore, Giuseppe, D'Adamo, Adamo Pio
Published in Journal of pediatric gastroenterology and nutrition (01.05.2022)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2022)
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Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A03:01 allele
Magri, Chiara, Marchina, Eleonora, Sansone, Emanuele, D'Adamo, Adamo Pio, Cappellani, Stefania, Bonfanti, Carlo, Terlenghi, Luigina, Biasiotto, Giorgio, Zanella, Isabella, Sala, Emma, Caruso, Arnaldo, Lombardo, Massimo, Gasparini, Paolo, De Palma, Giuseppe, Gennarelli, Massimo
Published in HLA (01.12.2023)
Published in HLA (01.12.2023)
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A nonsense mutation of human XRCC4 is associated with adult‐onset progressive encephalocardiomyopathy
Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo
Published in EMBO molecular medicine (01.07.2015)
Published in EMBO molecular medicine (01.07.2015)
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22 ALTERED ANTIGEN PROCESSING AND PRESENTATION PATHWAY IN INTESTINAL EPITHELIAL CELLS IS THE TRIGGER OF CELIAC DISEASE INFLAMMATION
De Leo, Luigina, d'Adamo, Adamo Pio, Patrizi, Sara, Pin, Alessia, Ziberna, Fabiana, Fontana, Giorgia, Molinario, Giuseppe, Aloisio, Michelangelo, Bramuzzo, Matteo, Leo, Grazia Di, Lega, Sara, Villanacci, Vincenzo, Not, Tarcisio
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
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