Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Susana Gama-de-Sousa"'
Autor:
Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease et
Externí odkaz:
https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972
Autor:
Maria I. Alvelos, Catarina I. Gonçalves, Eduarda Coutinho, Joana T. Almeida, Margarida Bastos, Maria L. Sampaio, Miguel Melo, Sofia Martins, Isabel Dinis, Alice Mirante, Leonor Gomes, Joana Saraiva, Bernardo D. Pereira, Susana Gama-de-Sousa, Carolina Moreno, Daniela Guelho, Diana Martins, Carla Baptista, Luísa Barros, Mara Ventura, Maria M. Gomes, Manuel C. Lemos
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020)
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of th
Externí odkaz:
https://doaj.org/article/06c9d999a7144ddeab5252eb69c04ee0
Autor:
Maria Inês, Alvelos, Ângela, Francisco, Leonor, Gomes, Isabel, Paiva, Miguel, Melo, Pedro, Marques, Susana, Gama-de-Sousa, Sofia, Carreiro, Telma, Quintela, Isabel, Gonçalves, Manuel Carlos, Lemos
Publikováno v:
Pituitary. 24(3)
Familial neurohypophyseal diabetes insipidus (FNDI) is a rare disorder characterized by childhood-onset progressive polyuria and polydipsia due to mutations in the arginine vasopressin (AVP) gene. The aim of the study was to describe the clinical and
Autor:
Catarina I Gonçalves, Leonor Gomes, Joana T Almeida, Carla Baptista, Daniela Guelho, Miguel Melo, Isabel Dinis, Maria Manuela Estima Gomes, Joana Saraiva, Manuel C. Lemos, Maria Inês Alvelos, Sofia Martins, Luísa Barros, Diana Martins, Alice Mirante, Margarida Bastos, Carolina Moreno, Eduarda Coutinho, Mara Ventura, Maria L Sampaio, Bernardo Dias Pereira, Susana Gama-de-Sousa
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020)
Journal of Clinical Medicine
Volume 9
Issue 1
Journal of Clinical Medicine
Volume 9
Issue 1
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of th
Autor:
Tânia Lopes, Cristina Duarte Madureira, Ana Raquel Moreira, Susana Gama de Sousa, Paula Fonseca
Publikováno v:
Ecos do Minho, Vol 12, Iss 1, Pp 21-26 (2017)
Introdução: A disfunção endócrina mais frequente em idade pediátrica é o hipotiroidismo. Nos países com aporte adequado de iodo as causas mais comuns de hipotiroidismo são hipotiroidismo congénito e tiroidite de Hashimoto. Efeitos metabóli
Autor:
Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0, https://doi.org/10.1186/s13023-019-1135-0
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027bace
https://hdl.handle.net/10216/139000
https://hdl.handle.net/10216/139000
Autor:
Ana Raquel Moreira, Cláudia Melo, Cláudia Fontes, Susana Gama de Sousa, Sara Figueiredo, Cecília Martins
Publikováno v:
Ecos do Minho, Vol 9, Iss 1, Pp 33-36 (2014)
Publikováno v:
Revista Portuguesa de Pneumologia, Vol 17, Iss 1, Pp 27-31 (2011)
Resumo: Objectivo: O objectivo deste estudo foi identificar em adolescentes, através de uma abordagem qualitativa, as representações sociais sobre o comportamento de fumar. Métodos: Foram realizadas trinta entrevistas semi-estruturadas po
Autor:
Cláudia Teles-Silva, Susana Gama de Sousa, Cláudia Melo, Cristina Duarte Pinto Valente Gomes Madureira
Publikováno v:
Scientia Medica. 28:31385
AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified.CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal t
Autor:
Susana Gama de Sousa, Henrique Barros
Publikováno v:
Revista Portuguesa de Pneumologia, Vol 16, Iss 4, Pp 573-588 (2010)
A introdução da vacina antipertussis nos programas de vacinação originou uma diminuição drástica da incidência de tosse convulsa no mundo. No entanto, nos últimos anos tem-se observado um aumento gradual do número de notificações, facto q