Isabel Conceição Moreira Pereira Alonso
AuthID: R-000-678
13
TITLE: Assessment of patients with hereditary transthyretin amyloidosis–understanding the impact of management and disease progression
AUTHORS: Conceição, I; Coelho, T; Rapezzi, C; Parman, Y; Obici, L; Galán, L; Rousseau, A;
PUBLISHED: 2019, SOURCE: Amyloid, VOLUME: 26, ISSUE: 3
AUTHORS: Conceição, I; Coelho, T; Rapezzi, C; Parman, Y; Obici, L; Galán, L; Rousseau, A;
PUBLISHED: 2019, SOURCE: Amyloid, VOLUME: 26, ISSUE: 3
INDEXED IN: 
Scopus
Scopus14
TITLE: The role of Neurexin (NRXN2) genetic network in migraine susceptibility Full Text
AUTHORS: Miguel Alves Ferreira; Joao Luis Neto; Jose Pereira Monteiro; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Miguel Alves Ferreira; Joao Luis Neto; Jose Pereira Monteiro; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS15
TITLE: Patients' Voices in Portugal - when rare becomes common Full Text
AUTHORS: Catarina Costa; Isabel Alonso; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catarina Costa; Isabel Alonso; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS16
TITLE: Interpreting sequence variants: a daily challenge in a clinical molecular genetics laboratory Full Text
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS17
TITLE: Ancestral Origin and diffusion of Va150Met mutation in Transthyretin-Related Familial Amyloid Polyneuropathy (ATTRV50M) in the Portuguese populations Full Text
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS18
TITLE: Detection of copy number variations in rare Mendelian disorders using whole exome sequencing Full Text
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS19
TITLE: Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
AUTHORS: Santos Silva, R ; Rosario, M; Grangeia, A ; Costa, C ; Castro Correia, C ; Alonso, I; Leao, M; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11
AUTHORS: Santos Silva, R ; Rosario, M; Grangeia, A ; Costa, C ; Castro Correia, C ; Alonso, I; Leao, M; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11
20
TITLE: Parkin truncating variants result in a loss-of-function phenotype Full Text
AUTHORS: Santos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, I;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
AUTHORS: Santos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, I;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
