Paulo Jorge da Silva Nogueira
AuthID: R-001-F37
51
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
WOS52
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
WOS53
TITLE: Fertility, Migration and Acculturation (FEMINA): A research protocol for studying intersectional sexual and reproductive health inequalities
AUTHORS: Alarcão, V; Stefanovska Petkovska, M; Virgolino, A; Santos, O; Ribeiro, S; Costa, A; Nogueira, P; Pascoal, PM; Pintassilgo, S; Machado, FL;
PUBLISHED: 2019, SOURCE: Reproductive Health, VOLUME: 16, ISSUE: 1
AUTHORS: Alarcão, V; Stefanovska Petkovska, M; Virgolino, A; Santos, O; Ribeiro, S; Costa, A; Nogueira, P; Pascoal, PM; Pintassilgo, S; Machado, FL;
PUBLISHED: 2019, SOURCE: Reproductive Health, VOLUME: 16, ISSUE: 1
INDEXED IN: 
Scopus
Scopus54
TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
55
TITLE: Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies Full Text
AUTHORS: Jorge, P; Garcia, E; Goncalves, A; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1
AUTHORS: Jorge, P; Garcia, E; Goncalves, A; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1
56
TITLE: Challenging measles case definition: three measles outbreaks in three Health Regions of Portugal, February to April 2018
AUTHORS: Goncalo Figueiredo Augusto; Diogo Cruz; Andreia Silva; Natalia Pereira; Barbara Aguiar; Ana Leca; Elisabete Serrada; Paula Valente; Teresa Fernandes; Fernando Guerra; Paula Palminha; Elsa Vinagre; Silvia Lopo; Rita Cordeiro; Emma Saez Lopez; Maria Neto; Paulo Jorge Nogueira; Graca Freitas;
PUBLISHED: 2018, SOURCE: EUROSURVEILLANCE, VOLUME: 23, ISSUE: 28
AUTHORS: Goncalo Figueiredo Augusto; Diogo Cruz; Andreia Silva; Natalia Pereira; Barbara Aguiar; Ana Leca; Elisabete Serrada; Paula Valente; Teresa Fernandes; Fernando Guerra; Paula Palminha; Elsa Vinagre; Silvia Lopo; Rita Cordeiro; Emma Saez Lopez; Maria Neto; Paulo Jorge Nogueira; Graca Freitas;
PUBLISHED: 2018, SOURCE: EUROSURVEILLANCE, VOLUME: 23, ISSUE: 28
INDEXED IN: Scopus WOS
Scopus WOS57
TITLE: Revisiting Crude and Standardized Mortality Ratios: which ones to assess health systems performance?
AUTHORS: Bacelar Nicolau, L; Alves, I; Nogueira, P; Pereira Miguel, J;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF PUBLIC HEALTH, VOLUME: 28
AUTHORS: Bacelar Nicolau, L; Alves, I; Nogueira, P; Pereira Miguel, J;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF PUBLIC HEALTH, VOLUME: 28
INDEXED IN: WOS
WOS58
TITLE: Prevalence of Pre-Obesity/Obesity in Pre and Basic School Children at Vila Nova de Gaia, Portugal Full Text
AUTHORS: Barbara Camarinha; Graça, Pedro ; Paulo Jorge Nogueira;
PUBLISHED: 2016, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 29, ISSUE: 1
AUTHORS: Barbara Camarinha; Graça, Pedro ; Paulo Jorge Nogueira;
PUBLISHED: 2016, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 29, ISSUE: 1
INDEXED IN: WOS
WOS59
TITLE: A Prevalência de Pré-Obesidade/Obesidade nas Crianças do Ensino Pré-Escolar e Escolar na Autarquia de Vila Nova de Gaia, Portugal Full Text
AUTHORS: Bárbara Camarinha; Graça, Pedro ; Paulo Jorge Nogueira;
PUBLISHED: 2016, SOURCE: Acta Médica Portuguesa, VOLUME: 29, ISSUE: 1
AUTHORS: Bárbara Camarinha; Graça, Pedro ; Paulo Jorge Nogueira;
PUBLISHED: 2016, SOURCE: Acta Médica Portuguesa, VOLUME: 29, ISSUE: 1
60
TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Isabel Marques; Maria Joao sa; Gabriela Soares; Maria do Ceu Mota; Carla Pinheiro; Lisa Aguiar; Marta Amado; Christina Soares; Angelina Calado; Patricia Dias; Ana Berta Sousa; Ana Maria Fortuna; Rosario Santos; Katherine B Howell; Monique M Ryan; Richard J Leventer; Rani Sachdev; Rachael Catford; Kathryn Friend; Tessa R Mattiske; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Isabel Marques; Maria Joao sa; Gabriela Soares; Maria do Ceu Mota; Carla Pinheiro; Lisa Aguiar; Marta Amado; Christina Soares; Angelina Calado; Patricia Dias; Ana Berta Sousa; Ana Maria Fortuna; Rosario Santos; Katherine B Howell; Monique M Ryan; Richard J Leventer; Rani Sachdev; Rachael Catford; Kathryn Friend; Tessa R Mattiske; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
INDEXED IN: WOS
WOS