Browsing by Subject Mutation

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Showing results 1 to 12 of 12
Issue DateTitleAuthor(s)TypeAccess Type
2011Cost/Benefit of Mutation Induction under PARP1 Deficiency: From Genomic Instability to TherapyLouro, Henriqueta; Silva, Maria JoãobookPartrestrictedAccess
Dec-2015Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Perez, Belén; Alves, SandraarticleembargoedAccess
Feb-2000Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patientsAmaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.articleopenAccess
2012Impact of Loci Nature on Estimating Recombination and Mutation Rates in Chlamydia trachomatisFerreira, Rita; Borges, Vitor; Nunes, Alexandra; Nogueira, Paulo Jorge; Borrego, Maria José; Gomes, João PauloarticleopenAccess
22-Apr-2014Investigation of the in vivo genotoxic effects of a titanium dioxide nanomaterial in LacZ plasmid-based transgenic miceLouro, Henriqueta; Tavares, Ana; Vital, Nádia; Costa, Pedro; Alverca, Elsa; Zwart, Edwin; de Jong, Wim H.; Fessard, Valérie; Lavinha, João; Silva, Maria JoãoconferenceObjectopenAccess
Nov-2005Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countriesLugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.; Lissens, W.; Mansson, J.; Marcao, A.; Michelakakis, H.; Bernheimer, H.; Ol'khovych, N.; Regis, S.; Sinke, R.; Tylki-Szymanska, A.; Czartoryska, B.articlerestrictedAccess
6-Nov-2006Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary resultsBourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia FamiliararticleopenAccess
2011The deleterious effect of missense mutations on pre-mRNA splicingGonçalves, Vânia; Jordan, PeterbookPartopenAccess
11-Nov-2014The mutational spectrum of WT1 in male infertilitySeabra, Catarina M.; Quental, Sofia; Lima, Ana C; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Pereira, Iris; Silva, Júlia; Marques, Patrícia I.; Sousa, Mário; Barros, Alberto; Seixas, Susana; Amorim, António; Lopes, Alexandra M.articleembargoedAccess
10-Dec-2014Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutationsMatos, Liliana; Canals, Isaac; Dridi, Labri; Choi, Yoo; Prata, Maria Joâo; Jordan, Peter; Desviat, Lourdes R.; Perez, Belén; Pshezhetsky, A.V.; Grinberg, Daniel; Alves, Sandra; Vilageliu, LluisaarticleopenAccess
1996Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the PortugueseAmaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.articlerestrictedAccess
Oct-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess