ProfileOfResearchers

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

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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

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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

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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: 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

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TITLE: Impaired adrenal medullary function in a mouse model of depression induced by unpredictable chronic stress Full Text
AUTHORS: Magda M Santana; Joana Rosmaninho Salgado ; Vera Cortez; Frederic C Pereira; Manuella P Kaster; Celia A Aveleira; Marisa Ferreira; Ana Rita Alvaro; Claudia Cavadas ;
PUBLISHED: 2015, SOURCE: EUROPEAN NEUROPSYCHOPHARMACOLOGY, VOLUME: 25, ISSUE: 10

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TITLE: Catecholamine Release Modulation by Adenosine Through A2a Receptors in Mouse Chromaffin Cells in Culture
AUTHORS: Santana, MM; Rosmaninho Salgado, J ; Kaster, M; Cortez, V; Cunha, RA; Cavadas, C ;
PUBLISHED: 2013, SOURCE: Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012

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TITLE: Chronic Unpredictable Stress Induces Catecholaminergic System Changes in Mouse Adrenal Gland
AUTHORS: Santana, MM; Cortez, V; Aveleira, C; Kaster, M; Rosmaninho Salgado, J ; Cavadas, C ;
PUBLISHED: 2013, SOURCE: Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012

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