DPSPDNT - Artigos em revistas internacionais : [95] Collection home page

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Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 95
Issue DateTitleAuthor(s)TypeAccess Type
Nov-2015Characterization of the First PCSK9 Gain of Function HomozygoteAlves, Ana Catarina; Etxebarria, A.; Medeiros, A.M.; Benito-Vicente, A.; Thedrez, A.; Passard, M.; Croyal, M.; Martin, C.; Lambert, G.; Bourbon, MafaldaarticleembargoedAccess
8-Dec-2015Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicityFernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
12-Nov-2015Progesterone in breast cancer angiogenesisBotelho, M.C.; Soares, R.; Alves, H.articleopenAccess
Feb-2015Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathwaysNetwork and Pathway Analysis Subgroup of Psychiatric Genomics ConsortiumarticleopenAccess
18-Sep-2015Familial hypercholesterolaemia: a global call to armsVallejo-Vaz, A.J.; Kondapally Seshasai, S.R.; Cole, D.; Hovingh, G.K.; Kastelein, J.J.; Mata, P.; Raal, F.J.; Santos, R.D.; Soran, H.; Watts, G.F.; Abifadel, M.; Aguilar-Salinas, C.A.; Akram, A.; Alnouri, F.; Alonso, R.; Al-Rasadi, K.; Banach, M.; Bogsrud, M.P.; Bourbon, M.; Bruckert, E.; Car, J.; Corral, P.; Descamps, O.; Dieplinger, H.; Durst, R.; Freiberger, T.; Gaspar, I.M.; Genest, J.; Harada-Shiba, M.; Jiang, L.; Kayikcioglu, M.; Lam, C.S.; Latkovskis, G.; Laufs, U.; Liberopoulos, E.; Nilsson, L.; Nordestgaard, B.G.; O'Donoghue, J.M.; Sahebkar, A.; Schunkert, H.; Shehab, A.; Stoll, M.; Su, TC; Susekov, A.; Widén, E.; Catapano, A.L.; Ray, K.K.articleembargoedAccess
15-Sep-2015Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and its Specific Treatment with Alirocumab, a PCSK9 Monoclonal AntibodyHopkins, P.N.; Defesche, J.; Fouchier, S.W.; Bruckert, E.; Luc, G.; Cariou, B.; Sjouke, B.; Leren, T.P.; Harada-Shiba, M.; Mabuchi, H.; Rabès, J.P.; Carrié, A.; van Heyningen, C.; Carreau, V.; Farnier, M.; Teoh, Y.P.; Bourbon, M.; Kawashiri, M.A.; Nohara, A.; Soran, H.; Marais, A.D.; Tada, H.; Abifadel, M.; Boileau, C.; Chanu, B.; Katsuda, S.; Kishimoto, I.; Lambert, G.; Makino, H.; Miyamoto, Y.; Pichelin, M.; Yagi, K.; Yamagishi, M.; Zair, Y.; Mellis, S.; Yancopoulos, G.D.; Stahl, N.; Mendoza, J.; Du, Y.; Hamon, S.; Krempf, M.; Swergold, G.D.articleembargoedAccess
27-Apr-2015Use of early intervention for young children with autism spectrum disorder across EuropeSalomone, E.; Beranová, Š.; Bonnet-Brilhault, F.; Briciet Lauritsen, M.; Budisteanu, M.; Buitelaar, J.; Canal-Bedia, R.; Felhosi, G.; Fletcher-Watson, S.; Freitag, C.; Fuentes, J.; Gallagher, L.; Garcia Primo, P.; Gliga, F.; Gomot, M.; Green, J.; Heimann, M.; Jónsdóttir, S.L.; Kaale, A.; Kawa, R.; Kylliainen, A.; Lemcke, S.; Markovska-Simoska, S.; Marschik, P.B.; McConachie, H.; Moilanen, I.; Muratori, F.; Narzisi, A.; Noterdaeme, M.; Oliveira, G.; Oosterling, I.; Pijl, M.; Pop-Jordanova, N.; Poustka, L.; Roeyers, H; Rogé, B.; Sinzig, J.; Vicente, A.; Warreyn, P.; Charman, T.articlerestrictedAccess
9-Jan-2015Trihalomethanes in liver pathology: Mitochondrial dysfunction and oxidative stress in the mouseFaustino-Rocha, A.I.; Rodrigues, D.; da Costa, R.G.; Diniz, C.; Aragão, S.; Talhada, D.; Botelho, M.; Colaço, A.; Pires, M.J.; Peixoto, F.; Oliveira, P.A.articleembargoedAccess
Jun-2015Bladder cancer and urinary Schistosomiasis in AngolaBotelho, M.C.; Figueiredo, J.; Alves, H.articleopenAccess
Oct-2015Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patientsGuerreiro, Cláudia; Silva, Bruno; Crespo, Ângela; Marques, Liliana; Costa, Sónia; Timóteo, Ângela; Marcelino, Erica; Maruta, Carolina; Vilares, Arminda; Matos, Mafalda; Couto, Frederico S.; Faustino, Paula; Verdelho, Ana; Guerreiro, Manuela; Herrero, Ana; Costa, Cristina; de Mendonça, Alexandre; Martins, Madalena; Costa, LucianaarticleembargoedAccess
28-May-2015Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvementMedeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaarticleembargoedAccess
5-Mar-2015The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemiaBenito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.articleembargoedAccess
14-Sep-2014Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)Cymbron, T.; Mendes, P.; Ramos, A.; Raposo, M.; Kazachkova, N.; Medeiros, A.M.; Bruges-Armas, J.; Bourbon, M.; Lima, M.articleopenAccess
2014New biomarkers to fight urogenital schistosomiasis: a major neglected tropical disease [editorial]Botelho, M.C.; Sousa, M.articleembargoedAccess
23-Dec-2014Schistosome and liver fluke derived catechol-estrogens and helminth associated cancersCorreia da Costa, J.M.; Vale, N.; Gouveia, M.J.; Botelho, M.C.; Sripa, B.; Santos, L.L.; Santos, J.H.; Rinaldi, G.; Brindley, P.J.articleopenAccess
16-Mar-2013HLA-A, -C, -B, and -DRB1 allelic and haplotypic diversity in bone marrow volunteer donors from Northern PortugalLima, Bruno A; Alves, HelenaarticleopenAccess
Mar-2014Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemiaMedeiros, A.M.; Alves, A.C.; Aguiar, P; Bourbon, M.; on behalf of the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia StudyarticleembargoedAccess
Aug-2014Cellular adhesion gene SELP is associated with rheumatoid arthritis and displays differential allelic expressionBurkhardt, J.; Blume, M.; Petit-Teixeira, E.; Hugo Teixeira, V.; Steiner, A.; Quente, E.; Wolfram, G.; Scholz, M.; Pierlot, C.; Migliorini, P.; Bombardieri, S.; Balsa, A.; Westhovens, R.; Barrera, P.; Radstake, T.R.; Alves, H.; Bardin, T.; Prum, B.; Emmrich, F.; Cornelis, F.; Ahnert, P.; Kirsten, H.articleopenAccess
11-Nov-2014Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation AssignmentEtxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
19-Nov-2014Protein Interaction Networks Reveal Novel Autism Risk Genes within GWAS Statistical NoiseCorreia, C.; Oliveira, G.; Vicente, A.M.articleopenAccess
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 95