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Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction Stocco, Gabriele; Galletti, Anna; Lucafo, Marianna; Giurici, Nagua; Curci, Debora; Solidoro, Sara; Kiren, Valentina; Bianco, Anna Monica; Barbi, Egidio; D'Adamo, Pio Share Save
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Neuron-Derived Extracellular Vesicles miRNA Profiles Identify Children Who Experience Adverse Events after Ketamine Administration for Procedural Sedation Lucafo, 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 Share Save
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa de Oliveira, Ana Sofia Lima Estevao; de Siqueira, Roberta Cardoso; Nait-Meddour, Cecile; Tricarico, Paola Maura; Moura, Ronald; Agrelli, Almerinda; d'Adamo, Adamo Pio; Jamain, Stephane; Crovella, Sergio; Brito, Maria de Fatima Medeiros; Boniotto, Michele; Brandao, Lucas Andre Cavalcanti Share Save
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity Balduit, Andrea; Bianco, Anna Monica; Mangogna, Alessandro; Zicari, Anna Maria; Leonardi, Lucia; Cinicola, Bianca Laura; Capponi, Martina; Tommasini, Alberto; Agostinis, Chiara; d'Adamo, Adamo Pio; Bulla, Roberta Share Save
Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways Crudele, Francesca; Bianchi, Nicoletta; Terrazzan, Anna; Ancona, Pietro; Frassoldati, Antonio; Gasparini, Paolo; D'Adamo, Adamo P.; Papaioannou, Dimitrios; Garzon, Ramiro; Wojcicka, Anna; Gaj, Pawel; Jazdzewski, Krystian; Palatini, Jeffrey; Volinia, Stefano Share Save
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis Tricarico, Paola Maura; Gratton, Rossella; dos Santos-Silva, Carlos Andre; de Moura, Ronald Rodrigues; Ura, Blendi; Sommella, Eduardo; Campiglia, Pietro; Del Vecchio, Cecilia; Moltrasio, Chiara; Berti, Irene; D'Adamo, Adamo Pio; Elsherbini, Ahmed M. A.; Staudenmaier, Lena; Chersi, Karin; Boniotto, Michele; Krismer, Bernhard; Schittek, Birgit; Crovella, Sergio Share Save
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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 Share Save
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Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up Brumatti, Liza Vecchi; Rosolen, Valentina; Mariuz, Marika; Piscianz, Elisa; Valencic, Erica; Bin, Maura; Athanasakis, Emmanouil; D'Adamo, Pio; Fragkiadoulaki, Eirini; Calamandrei, Gemma; Dinckol, Oyku; Barbone, Fabio; Ronfani, Luca Share Save
TBL1Y: a new gene involved in syndromic hearing loss Di Stazio, Mariateresa; Collesi, Chiara; Vozzi, Diego; Liu, Wei; Myers, Mike; Morgan, Anna; D' Adamo, Pio Adamo; Girotto, Giorgia; Rubinato, Elisa; Giacca, Mauro; Gasparini, Paolo Share Save
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function Gorski, Mathias; Van der Most, Peter J.; Teumer, Alexander; Chu, Audrey Y.; Li, Man; Mijatovic, Vladan; Nolte, Ilja M.; Cocca, Massimiliano; Taliun, Daniel; Gomez, Felicia; Li, Yong; Tayo, Bamidele; Tin, Adrienne; Feitosa, Mary F.; Aspelund, Thor; Attia, John; Biffar, Reiner; Bochud, Murielle; Boerwinkle, Eric; Borecki, Ingrid; Bottinger, Erwin P.; Chen, Ming-Huei; Chouraki, Vincent; Ciullo, Marina; Coresh, Josef; Cornelis, Marilyn C.; Curhan, Gary C.; d'Adamo, Adamo Pio; Dehghan, Abbas; Dengler, Laura; Ding, Jingzhong; Eiriksdottir, Gudny; Endlich, Karlhans; Enroth, Stefan; Esko, Tonu; Franco, Oscar H.; Gasparini, Paolo; Gieger, Christian; Girotto, Giorgia; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Hancock, Stephen J.; Harris, Tamara B.; Helmer, Catherine; Hoellerer, Simon; Hofer, Edith; Hofman, Albert; Holliday, Elizabeth G.; Homuth, Georg; Hu, Frank B.; Huth, Cornelia; Hutri-Kahonen, Nina; Hwang, Shih-Jen; Imboden, Medea; Johansson, Asa; Kahonen, Mika; Koenig, Wolfgang; Kraemer, Holly; Kramer, Bernhard K.; Kumar, Ashish; Kutalik, Zoltan; Lambert, Jean-Charles; Launer, Lenore J.; Lehtimaki, Terho; de Borst, Martin; Navis, Gerjan; Swertz, Morris; Liu, Yongmei; Lohman, Kurt; Loos, Ruth J. F.; Lu, Yingchang; Lyytikainen, Leo-Pekka; McEvoy, Mark A.; Meisinger, Christa; Meitinger, Thomas; Metspalu, Andres; Metzger, Marie; Mihailov, Evelin; Mitchell, Paul; Nauck, Matthias; Oldehinkel, Albertine J.; Olden, Matthias; Penninx, Brenda W. J. H.; Pistis, Giorgio; Pramstaller, Peter P.; Probst-Hensch, Nicole; Raitakari, Olli T.; Rettig, Rainer; Ridker, Paul M.; Rivadeneira, Fernando; Robino, Antonietta; Rosas, Sylvia E.; Ruderfer, Douglas; Ruggiero, Daniela; Saba, Yasaman; Sala, Cinzia; Schmidt, Helena; Schmidt, Reinhold; Scott, Rodney J.; Sedaghat, Sanaz; Smith, Albert V.; Sorice, Rossella; Stengel, Benedicte; Stracke, Sylvia; Strauch, Konstantin; Toniolo, Daniela; Uitterlinden, Andre G.; Ulivi, Sheila; Viikari, Jorma S.; Voelker, Uwe; Vollenweider, Peter; Voelzke, Henry; Vuckovic, Dragana; Waldenberger, Melanie; Wang, Jie Jin; Yang, Qiong; Chasman, Daniel I.; Tromp, Gerard; Snieder, Harold; Heid, Iris M.; Fox, Caroline S.; Koettgen, Anna; Pattaro, Cristian; Boeger, Carsten A.; Fuchsberger, Christian Share Save
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function Pattaro, Cristian; Teumer, Alexander; Gorski, Mathias; Chu, Audrey Y.; Li, Man; Mijatovic, Vladan; Garnaas, Maija; Tin, Adrienne; Sorice, Rossella; Li, Yong; Taliun, Daniel; Olden, Matthias; Foster, Meredith; Yang, Qiong; Chen, Ming-Huei; Pers, Tune H.; Johnson, Andrew D.; Ko, Yi-An; Fuchsberger, Christian; Tayo, Bamidele; Nalls, Michael; Feitosa, Mary F.; Isaacs, Aaron; Dehghan, Abbas; d'Adamo, Pio; Adeyemo, Adebowale; Dieffenbach, Aida Karina; Zonderman, Alan B.; Nolte, Ilja M.; van der Most, Peter J.; Wright, Alan F.; Shuldiner, Alan R.; Morrison, Alanna C.; Hofman, Albert; Smith, Albert V.; Dreisbach, Albert W.; Franke, Andre; Uitterlinden, Andre G.; Metspalu, Andres; Tonjes, Anke; Lupo, Antonio; Robino, Antonietta; Johansson, Asa; Demirkan, Ayse; Kollerits, Barbara; Freedman, Barry I.; Ponte, Belen; Oostra, Ben A.; Paulweber, Bernhard; Kraemer, Bernhard K.; Mitchell, Braxton D.; Buckley, Brendan M.; Peralta, Carmen A.; Hayward, Caroline; Helmer, Catherine; Rotimi, Charles N.; Shaffer, Christian M.; Mueller, Christian; Sala, Cinzia; van Duijn, Cornelia M.; Saint-Pierre, Aude; Ackermann, Daniel; Shriner, Daniel; Ruggiero, Daniela; Toniolo, Daniela; Lu, Yingchang; Cusi, Daniele; Czamara, Darina; Ellinghaus, David; Siscovick, David S.; Ruderfer, Douglas; Gieger, Christian; Grallert, Harald; Rochtchina, Elena; Atkinson, Elizabeth J.; Holliday, Elizabeth G.; Boerwinkle, Eric; Salvi, Erika; Bottinger, Erwin P.; Murgia, Federico; Rivadeneira, Fernando; Ernst, Florian; Kronenberg, Florian; Hu, Frank B.; Navis, Gerjan J.; Curhan, Gary C.; Ehret, George B.; Homuth, Georg; Coassin, Stefan; Thun, Gian-Andri; Pistis, Giorgio; Gambaro, Giovanni; Malerba, Giovanni; Montgomery, Grant W.; Eiriksdottir, Gudny; Jacobs, Gunnar; Li, Guo; Wichmann, H-Erich; Campbell, Harry; Schmidt, Helena; Wallaschofski, Henri; Voelzke, Henry; Brenner, Hermann; Kroemer, Heyo K.; Kramer, Holly; Lin, Honghuang; Leach, I. Mateo; Ford, Ian; Guessous, Idris; Rudan, Igor; Prokopenko, Inga; Borecki, Ingrid; Heid, Iris M.; Kolcic, Ivana; Persico, Ivana; Jukema, J. Wouter; Wilson, James F.; Felix, Janine F.; Divers, Jasmin; Lambert, Jean-Charles; Stafford, Jeanette M.; Gaspoz, Jean-Michel; Smith, Jennifer A.; Faul, Jessica D.; Wang, Jie Jin; Ding, Jingzhong; Hirschhorn, Joel N.; Attia, John; Whitfield, John B.; Chalmers, John; Viikari, Jorma; Coresh, Josef; Denny, Joshua C.; Karjalainen, Juha; Fernandes, Jyotika K.; Endlich, Karlhans; Butterbach, Katja; Keene, Keith L.; Lohman, Kurt; Portas, Laura; Launer, Lenore J.; Lyytikaeinen, Leo-Pekka; Yengo, Loic; Franke, Lude; Ferrucci, Luigi; Rose, Lynda M.; Kedenko, Lyudmyla; Rao, Madhumathi; Struchalin, Maksim; Kleber, Marcus E.; Cavalieri, Margherita; Haun, Margot; Cornelis, Marilyn C.; Ciullo, Marina; Pirastu, Mario; de Andrade, Mariza; McEvoy, Mark A.; Woodward, Mark; Adam, Martin; Cocca, Massimiliano; Nauck, Matthias; Imboden, Medea; Waldenberger, Melanie; Pruijm, Menno; Metzger, Marie; Stumvoll, Michael; Evans, Michele K.; Sale, Michele M.; Kaehoenen, Mika; Boban, Mladen; Bochud, Murielle; Rheinberger, Myriam; Verweij, Niek; Bouatia-Naji, Nabila; Martin, Nicholas G.; Hastie, Nick; Probst-Hensch, Nicole; Soranzo, Nicole; Devuyst, Olivier; Raitakari, Olli; Gottesman, Omri; Franco, Oscar H.; Polasek, Ozren; Gasparini, Paolo; Munroe, Patricia B.; Ridker, Paul M.; Mitchell, Paul; Muntner, Paul; Meisinger, Christa; Smit, Johannes H.; Kovacs, Peter; Wild, Philipp S.; Froguel, Philippe; Rettig, Rainer; Maegi, Reedik; Biffar, Reiner; Schmidt, Reinhold; Middelberg, Rita P. S.; Carroll, Robert J.; Penninx, Brenda W.; Scott, Rodney J.; Katz, Ronit; Sedaghat, Sanaz; Wild, Sarah H.; Kardia, Sharon L. R.; Ulivi, Sheila; Hwang, Shih-Jen; Enroth, Stefan; Kloiber, Stefan; Trompet, Stella; Stengel, Benedicte; Hancock, Stephen J.; Turner, Stephen T.; Rosas, Sylvia E.; Stracke, Sylvia; Harris, Tamara B.; Zeller, Tanja; Zemunik, Tatijana; Lehtimaeki, Terho; Illig, Thomas; Aspelund, Thor; Nikopensius, Tiit; Esko, Tonu; Tanaka, Toshiko; Gyllensten, Ulf; Voelker, Uwe; Emilsson, Valur; Vitart, Veronique; Aalto, Ville; Gudnason, Vilmundur; Chouraki, Vincent; Chen, Wei-Min; Igl, Wilmar; Maerz, Winfried; Koenig, Wolfgang; Lieb, Wolfgang; Loos, Ruth J. F.; Liu, Yongmei; Snieder, Harold; Pramstaller, Peter P.; Parsa, Afshin; O'Connell, Jeffrey R.; Susztak, Katalin; Hamet, Pavel; Tremblay, Johanne; de Boer, Ian H.; Boeger, Carsten A.; Goessling, Wolfram; Chasman, Daniel I.; Koettgen, Anna; Kao, W. H. Linda; Fox, Caroline S. Share Save
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways Giordano, L.; Deceglie, S.; d'Adamo, P.; Valentino, Ml; La Morgia, C.; Fracasso, F.; Roberti, M.; Cappellari, M.; Petrosillo, G.; Ciaravolo, S.; Parente, D.; Giordano, C.; Maresca, A.; Iommarini, L.; Del Dotto, V.; Ghelli, A. M.; Salomao, S. R.; Berezovsky, A.; Belfort, R., Jr.; Sadun, A. A.; Carelli, V.; Polosa, P. Loguercio; Cantatore, P. Share Save
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; Polosa, Paola Loguercio; Barboni, Piero; De Negri, Annamaria; Sadun, Federico; Karanjia, Rustum; Salomao, Solange R.; Berezovsky, Adriana; Chicani, Filipe; Moraes, Milton; Moraes Filho, Milton; Belfort, Rubens, Jr.; Sadun, Alfredo A. Share Save
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