Browsing by Subject Familial Hypercholesterolaemia

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)TypeAccess Type
Jun-2015Exome sequencing reveals novel functional mutations in APOB causing Familial HypercholesterolaemiaAlves, A.C.; Medeiros, A.M.; Etxebarria, A.C.; Benito-Vicente, A.B.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
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
Mar-2015Further evidence of novel APOB mutations as a cause of Familial HypercholesterolemiaAlves, A.C.; Etxebarria, A; Benito-Vicente, A.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
6-Nov-2015Genetic causes of severe dyslipidaemiaBourbon, MafaldaconferenceObjectembargoedAccess
Mar-2015Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional DataAlves, A.C.; Benito-Vicente, A.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
May-2014Genotype/phenotype differences in childhood and adulthoodAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
10-Aug-2012In vitro functional characterization of missense mutations in the LDLR geneSilva, S.; Alves, A.C.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.articlerestrictedAccess
Jun-2015LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaAzevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.conferenceObjectembargoedAccess
Nov-2015Lisosomal Acid Lipase Deficiency, an unrecognized cause of dyslipidaemia: 1st national resultsBourbon, MafaldaconferenceObjectembargoedAccess
Oct-2015Lisosomal Acid Lipase Deficiency: an unrecognized cause of dyslipidaemia and liver disordersBourbon, MafaldaconferenceObjectclosedAccess
13-Nov-2013Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, MafaldaarticleembargoedAccess
Mar-2015Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in IberoamericaAzevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
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
Oct-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess
May-2016Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaconferenceObjectembargoedAccess