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2016
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OMaria, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study. J Rheumatol 2016;43(6):1093-100.
Porto AGiuseppe, Brun F, Severini GMaria, Losurdo P, Fabris E, Taylor MRG, Mestroni L, Sinagra G. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol 2016;9(1):e003121.
von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert A-K, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WFJ, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet 2016;17(1):35.
Zanella S, De Leo L, Nguyen-Ngoc-Quynh L, Nguyen-Duy B, Not T, Tran-Thi-Chi M, Phung-Duc S, Le-Thanh H, Malaventura C, Vatta S, Ziberna F, Mazzocco M, Volpato S, Phung-Tuyet L, Le-Thi-Minh H, Borgna-Pignatti C. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children. BMJ Open 2016;6(6):e011173.
Zanella S, De Leo L, Nguyen-Ngoc-Quynh L, Nguyen-Duy B, Not T, Tran-Thi-Chi M, Phung-Duc S, Le-Thanh H, Malaventura C, Vatta S, Ziberna F, Mazzocco M, Volpato S, Phung-Tuyet L, Le-Thi-Minh H, Borgna-Pignatti C. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children. BMJ Open 2016;6(6):e011173.
Bibalo C, Longo G, Ventura A. Decline in Lung Function in Childhood Asthma. N Engl J Med 2016;375(7):e13.
Lucafò M, Bravin V, Tommasini A, Martelossi S, Rabach I, Ventura A, Decorti G, De Iudicibus S. Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance. Clin Exp Pharmacol Physiol 2016;43(6):602-5.
Sonego M, Sagrado MJosé, Escobar G, Lazzerini M, Rivas E, Martín-Cañavate R, de López EPérez, Ayala S, Castaneda L, Aparicio P, Custodio E. Dyslipidemia, Diet, and Physical Exercise in Children on Treatment with Anti-Retroviral Medication in El Salvador: A Cross-Sectional Study. Pediatr Infect Dis J 2016;
Rosati A, Ilvento L, L'Erario M, De Masi S, Biggeri A, Fabbro G, Bianchi R, Stoppa F, Fusco L, Pulitanò S, Battaglia D, Pettenazzo A, Sartori S, Biban P, Fontana E, Cesaroni E, Mora D, Costa P, Meleleo R, Vittorini R, Conio A, Wolfler A, Mastrangelo M, Mondardini MCristina, Franzoni E, McGreevy KS, Di Simone L, Pugi A, Mirabile L, Vigevano F, Guerrini R. Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01). BMJ Open 2016;6(6):e011565.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen M-H, Pers TH, Johnson AD, Ko Y-A, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AKarina, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tönjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun G-A, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann H-E, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, I Leach M, Ford I, Guessous I, Rudan I, Prokopenko I, Borecki I, Heid IM, Kolcic I, Persico I, J Jukema W, Wilson JF, Felix JF, Divers J, Lambert J-C, Stafford JM, Gaspoz J-M, Smith JA, Faul JD, Wang JJin, Ding J, Hirschhorn JN, Attia J, Whitfield JB, Chalmers J, Viikari J, Coresh J, Denny JC, Karjalainen J, Fernandes JK, Endlich K, Butterbach K, Keene KL, Lohman K, Portas L, Launer LJ, Lyytikäinen L-P, Yengo L, Franke L, Ferrucci L, Rose LM, Kedenko L, Rao M, Struchalin M, Kleber ME, Cavalieri M, Haun M, Cornelis MC, Ciullo M, Pirastu M, de Andrade M, McEvoy MA, Woodward M, Adam M, Cocca M, Nauck M, Imboden M, Waldenberger M, Pruijm M, Metzger M, Stumvoll M, Evans MK, Sale MM, Kähönen M, Boban M, Bochud M, Rheinberger M, Verweij N, Bouatia-Naji N, Martin NG, Hastie N, Probst-Hensch N, Soranzo N, Devuyst O, Raitakari O, Gottesman O, Franco OH, Polasek O, Gasparini P, Munroe PB, Ridker PM, Mitchell P, Muntner P, Meisinger C, Smit JH, Kovacs P, Wild PS, Froguel P, Rettig R, Mägi R, Biffar R, Schmidt R, Middelberg RPS, Carroll RJ, Penninx BW, Scott RJ, Katz R, Sedaghat S, Wild SH, Kardia SLR, Ulivi S, Hwang S-J, Enroth S, Kloiber S, Trompet S, Stengel B, Hancock SJ, Turner ST, Rosas SE, Stracke S, Harris TB, Zeller T, Zemunik T, Lehtimäki T, Illig T, Aspelund T, Nikopensius T, Esko T, Tanaka T, Gyllensten U, Völker U, Emilsson V, Vitart V, Aalto V, Gudnason V, Chouraki V, Chen W-M, Igl W, März W, Koenig W, Lieb W, Loos RJF, Liu Y, Snieder H, Pramstaller PP, Parsa A, O'Connell JR, Susztak K, Hamet P, Tremblay J, de Boer IH, Böger CA, Goessling W, Chasman DI, Köttgen A, Kao WHLinda, Fox CS. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun 2016;7:10023.

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