ProfileOfResearchers

TITLE: Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report
AUTHORS: Ferreira, SH; Costa, MM ; Rios, E; Silva, RS ; Costa, C ; Castro Correia, C ; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 2

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TITLE: Clinical, biochemical and gender characteristics of 97 prepubertal children with premature adrenarche
AUTHORS: Santos Silva, R ; Costa, C ; Castro Correia, C ; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11

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TITLE: CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort
AUTHORS: Santos Silva, R ; Cardoso, R; Lopes, L; Fonseca, M; Espada, F; Sampaio, L; Brandao, C; Antunes, A; Braganca, G; Coelho, R; Bernardo, T; Vieira, P; Morais, R; Leitek, AL; Ribeiro, L; Carvalho, B; Grangeia, A ; Oliveira, R; Oliveira, MJ; Rey, V; Rosmaninho Salgado, J ; Marques, B; Garcia, AM; Meireles, A; Carvalho, J; Sequeirau, A; Mirante, A; Borges, T; ...More
PUBLISHED: 2019, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 91, ISSUE: 1

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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

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TITLE: Pituitary incidentalomas in paediatric age are different from those described in adulthood Full Text
AUTHORS: Pedro Souteiro ; Ruben Maia; Rita Santos Silva ; Rita Figueiredo; Carla Costa ; Sandra Belo; Cintia Castro Correia ; Davide Carvalho ; Manuel Fontoura ;
PUBLISHED: 2019, SOURCE: PITUITARY, VOLUME: 22, ISSUE: 2

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TITLE: Metabolic risk factors in adolescent girls with type 1 diabetes
AUTHORS: Castro Correia, C ; Santos Silva, R ; Pinheiro, M ; Costa, C ; Fontoura, M;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 31, ISSUE: 6

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TITLE: Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype
AUTHORS: Armanda Passas; Carla Rocha; Rita Figueiredo; Jose Mendes-Ribeiro; Susana Fernandes; Saskia Biskup; Miguel Leão; Rita Santos-Silva ;
PUBLISHED: 2015, SOURCE: Neuropediatrics, VOLUME: 46, ISSUE: 02

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TITLE: Bilateral Frontoparietal Polymicrogyria: A Novel GPR56 Mutation and an Unusual Phenotype
AUTHORS: Santos Silva, R ; Passas, A; Rocha, C; Figueiredo, R; Mendes Ribeiro, J; Fernandes, S; Biskup, S; Leao, M;
PUBLISHED: 2015, SOURCE: NEUROPEDIATRICS, VOLUME: 46, ISSUE: 2

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