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Wednesday, 07 March 2018 00:37
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  1. Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. A novel Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, periodic fevers and developmental delay (SIFD). Blood, 2013. 122(1): p. 112-23. doi:10.1182/blood-2012-08-439083 IF: 13.164

  2. Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ. Transancestral mapping and genetic load in systemic lupus erythematosus.  Nature Communications, 2017. 8: p. 16021. doi:10.1038/ncomms16021 IF: 12.353

  3. Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain, 2013. 136(Pt 10): p. 3140-50. doi:10.1093/brain/awt233 IF: 10.848

  4. Jesus TT, Oliveira PF, Silva J, Barros A, Ferreira R, Sousa M, Cheng CY, Silva BM, Alves MG. Mammalian target of rapamycin controls glucose consumption and redox balance in human Sertoli cells. Fertility and Sterility, 2016. 105(3): p. 825–833. doi:10.1016/j.fertnstert.2015.11.032 IF: 4.803

  5. Taverna S, Giallombardo M, Gil-Bazo I, Carreca AP, Castiglia M, Chacártegui J, Araujo A, Alessandro R, Pauwels P, Peeters M, Rolfo C. Exosomes isolation and characterization in serum is feasible in non-small cell lung cancer patients: critical analysis of evidence and potential role in clinical practice. Oncotarget, 2016. 7: p. 28748-28760. doi:10.18632/oncotarget.7638 IF: 5.168

  6. Pucci A, Tymoszuk U, Cheung WH, Makaronidis JM, Scholes S, Tharakan G, Elkalaawy M, Guimarães M, Nora M, Hashemi M, Jenkinson A, Adamo M, Monteiro MP, Finer N, Batterham RL. Type 2 diabetes remission 2 years post Roux-en-Y gastric bypass and sleeve gastrectomy: the role of the weight loss and comparison of DiaRem and DiaBetter scores. Diabetic Medicine, 2017. 35: p. 360-367. doi:10.1111/dme.13532 IF: 3.132

  7. Monteiro MP, Batterham RL. The Importance of the Gastrointestinal Tract in Controlling Food Intake and Regulating Energy Balance. Gastroenterology, 2017. 152(7): p. 1707-1717.e2. doi:10.1053/j.gastro.2017.01.053 IF: 20.773

  8. Bárcena P, Jara-Acevedo M, Tabernero MD, López A, Sánchez ML, García-Montero AC, Muñoz-García N, Vidriales MB, Paiva A, Lecrevisse Q, Lima M, Langerak AW, Böttcher S, van Dongen JJ, Orfao A, Almeida J. Phenotypic profile of expanded NK-cells in chronic Lymphoproliferative Disorders.  Oncotarget, 2015. 6(40): p. 42938-42951. doi:10.18632/oncotarget.5480 IF: 5.168

  9. Tavares I, Oliveira JP, Pinho A, Moreira L, Rocha L, Santos J, Pinheiro J, Costa PP, Lobato L. Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing. American Journal of Kidney Diseases, 2017. 70(2): p. 235-243. doi:10.1053/j.ajkd.2017.01.048 IF: 7.543

  10. Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton  P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M,  Topaloglu H, Jaeken J, Foulquier F, Matthijs G. MAN1B1 deficiency: an unexpected  CDG-II. PLoS Genetics, 2013. 9(12): p. e1003989. doi:10.1371/journal.pgen.1003989 IF: 5.540



Last Updated on Sunday, 05 May 2019 15:43