Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
71
TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
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TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
73
TITLE: Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome Full Text
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
74
TITLE: Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51 Full Text
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
75
TITLE: Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I Full Text
AUTHORS: Elisio Costa ; Emilia Vieira; Rosario dos Santos; Ana Isabel Lopes; Maria Joana Saldanha; Dora Brites ;
PUBLISHED: 2009, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 42, ISSUE: 3
AUTHORS: Elisio Costa ; Emilia Vieira; Rosario dos Santos; Ana Isabel Lopes; Maria Joana Saldanha; Dora Brites ;
PUBLISHED: 2009, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 42, ISSUE: 3
76
TITLE: Lipoprotein(a) Levels in Obese Portuguese Children and Adolescents: Contribution of the Pentanucleotide Repeat (TTTTA)n Polymorphism in the Apolipoprotein(a) Gene
AUTHORS: Henrique Nascimento; Licentiate Leticia Silva; Pedro Lourenco; Emilia Vieira; Rosario dos Santos; Carla Rego ; Helena Ferreira; Alexandre Quintanilha ; Alice Santos-Silva ; Luis Belo ;
PUBLISHED: 2009, SOURCE: ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, VOLUME: 163, ISSUE: 4
AUTHORS: Henrique Nascimento; Licentiate Leticia Silva; Pedro Lourenco; Emilia Vieira; Rosario dos Santos; Carla Rego ; Helena Ferreira; Alexandre Quintanilha ; Alice Santos-Silva ; Luis Belo ;
PUBLISHED: 2009, SOURCE: ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, VOLUME: 163, ISSUE: 4
77
TITLE: Planning the human variome project: The Spain report Full Text
AUTHORS: Kaput, J; Cotton, RGH; Hardman, L; Watson, M; Aqeel, AIA; Al Aama, JY; Al Mulla, F; Alonso, S; Aretz, S; Auerbach, AD; Bapat, B; Bernstein, IT; Bhak, J; Bleoo, SL; Blocer, H; Brenner, SE; Burn, J; Bustamante, M; Calzone, R; Cambon Thomsen, A; ...More
PUBLISHED: 2009, SOURCE: Human Mutation, VOLUME: 30, ISSUE: 4
AUTHORS: Kaput, J; Cotton, RGH; Hardman, L; Watson, M; Aqeel, AIA; Al Aama, JY; Al Mulla, F; Alonso, S; Aretz, S; Auerbach, AD; Bapat, B; Bernstein, IT; Bhak, J; Bleoo, SL; Blocer, H; Brenner, SE; Burn, J; Bustamante, M; Calzone, R; Cambon Thomsen, A; ...More
PUBLISHED: 2009, SOURCE: Human Mutation, VOLUME: 30, ISSUE: 4
78
TITLE: Single nucleotide polymorphisms in the apo(a) kringle IV type 8 domain are not associated with atherothrombotic serum lipoprotein (a) concentration, in a portuguese paediatric population Full Text
AUTHORS: Ferreira, H; Costa, E ; Vieira, E; Barbot, J; Dos Santos, R;
PUBLISHED: 2008, SOURCE: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, VOLUME: 30, ISSUE: 3
AUTHORS: Ferreira, H; Costa, E ; Vieira, E; Barbot, J; Dos Santos, R;
PUBLISHED: 2008, SOURCE: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, VOLUME: 30, ISSUE: 3
79
TITLE: Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy Full Text
AUTHORS: Jorge Oliveira; Isabel Soares Silva ; Ivo Fokkema; Ana Goncalves; Alexandra Cabral; Luisa Diogo; Lucia Galan; Antonio Guimaraes; Isabel Fineza; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 6
AUTHORS: Jorge Oliveira; Isabel Soares Silva ; Ivo Fokkema; Ana Goncalves; Alexandra Cabral; Luisa Diogo; Lucia Galan; Antonio Guimaraes; Isabel Fineza; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 6
80
TITLE: Hematologically important mutations: Shwachman-Diamond syndrome Full Text
AUTHORS: Elisio Costa ; Rosario Santos;
PUBLISHED: 2008, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 40, ISSUE: 2
AUTHORS: Elisio Costa ; Rosario Santos;
PUBLISHED: 2008, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 40, ISSUE: 2
