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TITLE: <i>MC4R</i> deficiency in a portuguese pediatric cohort study
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
3
TITLE: Heterozygous variants in SPTBN1 cause intellectual disability and autism  Full Text
AUTHORS: Rosenfeld, JA; Xiao, R; Bekheirnia, MR; Kanani, F; Parker, MJ; Koenig, MK; van Haeringen, A; Ruivenkamp, C; Rosmaninho Salgado, J; Almeida, PM; Sa, J; Basto, JP; Palen, E; Oetjens, KF; Burrage, LC; Xia, F; Liu, PF; Eng, CM; Yang, YP; Posey, JE; Lee, BH; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 185, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
4
TITLE: MC3R links nutritional state to childhood growth and the timing of puberty  Full Text
AUTHORS: Lam, BYH; Williamson, A; Finer, S; Day, FR; Tadross, JA; Soares, AG; Wade, K; Sweeney, P; Bedenbaugh, MN; Porter, DT; Melvin, A; Ellacott, KLJ; Lippert, RN; Buller, S; Rosmaninho Salgado, J; Dowsett, GKC; Ridley, KE; Xu, Z; Cimino, I; Rimmington, D; Rainbow, K; Duckett, K; Holmqvist, S; Khan, A; Dai, X; Bochukova, EG; Trembath, RC; Martin, HC; Coll, AP; Rowitch, DH; Wareham, NJ; van Heel, DA; Timpson, N; Simerly, RB; Ong, KK; Cone, RD; Langenberg, C; Perry, JRB; Yeo, GS; O'Rahilly, S; ...More
PUBLISHED: 2021, SOURCE: NATURE, VOLUME: 599, ISSUE: 7885
INDEXED IN: Scopus WOS CrossRef: 65
IN MY: ORCID
5
TITLE: Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
AUTHORS: Ventura, M; Gomes, L; Rosmaninho Salgado, J; Barros, L; Paiva, I; Melo, M; Oliveira, D; Carrilho, F;
PUBLISHED: 2019, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2019, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
6
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
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
7
TITLE: 16p11.2 microdeletion: The most common chromosomal anomaly associated with obesity  Full Text
AUTHORS: Joana Rosmaninho salgado; Luis Miguel Pires; Isabel M Carreira; Joana Barbosa Melo; Pedro Louro ; Joaquim Sa; Maria Margarida Venancio; Pedro Almeida; Sara Ribeiro; Jorge M Saraiva; Sergio B Sousa;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 49
INDEXED IN: WOS
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TITLE: A Clinical Case of MC4R Deficiency in a Portuguese Pediatric Cohort Study
AUTHORS: Joana Rosmaninho Salgado; Janet Pereira; Alice Mirante; Jorge M Saraiva; Sergio B Sousa; Raquel Soares;
PUBLISHED: 2018, SOURCE: ANNALS OF NUTRITION AND METABOLISM, VOLUME: 73, ISSUE: 4
INDEXED IN: WOS
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TITLE: Homework's in primary school: The case of the curricular area of “environment study”
AUTHORS: Costa, A; Salgado, JM; Ferreira, ME;
PUBLISHED: 2018, SOURCE: Universal Journal of Educational Research, VOLUME: 6, ISSUE: 8
INDEXED IN: Scopus
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TITLE: Hypoxia mimetic induces lipid accumulation through mitochondrial dysfunction and stimulates autophagy in murine preadipocyte cell line  Full Text
AUTHORS: Marques, AP; Rosmaninho Salgado, J; Estrada, M; Cortez, V; Nobre, RJ; Cavadas, C;
PUBLISHED: 2017, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, VOLUME: 1861, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
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