Fernandes S - Search Results

1

First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an "African variant" in Caucasians.

da Costa CM, Amador AF, Calvão J, Vasconcelos Porto A, Fernandes S, Martins E, Macedo F. da Costa CM, et al. Among authors: fernandes s. Scand Cardiovasc J. 2023 Dec;57(1):2197183. doi: 10.1080/14017431.2023.2197183. Scand Cardiovasc J. 2023. PMID: 37029471 Review.

2

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

Vasconcelos AP, Nogueira A, Matos P, Pinto J, Pinho MJ, Fernandes S, Dória S, Pinto Moura C. Vasconcelos AP, et al. Among authors: fernandes s. Eur J Med Genet. 2023 Oct;66(10):104827. doi: 10.1016/j.ejmg.2023.104827. Epub 2023 Aug 30. Eur J Med Genet. 2023. PMID: 37657632

3

Alsin related disorders: literature review and case study with novel mutations.

Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leão M. Flor-de-Lima F, et al. Among authors: fernandes s. Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14. Case Rep Genet. 2014. PMID: 25302125 Free PMC article.

4

Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

Castro-Ferreira I, Carmo R, Silva SE, Corrêa O, Fernandes S, Sampaio S, Pedro RP, Praça A, Oliveira JP. Castro-Ferreira I, et al. Among authors: fernandes s. JIMD Rep. 2018;40:55-62. doi: 10.1007/8904_2017_57. Epub 2017 Oct 6. JIMD Rep. 2018. PMID: 28983876 Free PMC article.

5

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Rocha H, Sampaio M, Rocha R, Fernandes S, Leão M. Rocha H, et al. Among authors: fernandes s. Eur J Med Genet. 2016 Sep;59(9):478-82. doi: 10.1016/j.ejmg.2016.05.017. Epub 2016 May 31. Eur J Med Genet. 2016. PMID: 27255693 Review.

6

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M. Santos-Silva R, et al. Among authors: fernandes s. Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642806

7

Diagnosis of metabolic syndrome in nursing professionals: An accuracy study.

Gomes ÉVD, Vasconcelos RS, Coelho NMF, Almeida LC, Silva DARD, Cerqueira MMBDF, Cerqueira JMDF, Conceição SDS, Soares JSP, Magalhães LBNC, Lua I, Figueredo ACMG, Brito VCSG, Fernandes SL, Viana DA, Freitas RPD, Requião GM, Lima LADS, Hayes BK, Pinheiro IM, Monção MM, Souza ACDS, Cruz SSD, Gomes AMT, Pimentel RFW, Nardes BO, Lopes LC, Bastos NSSG, D'Oliveira A Júnior, Mercês MCD, Coelho JMF. Gomes ÉVD, et al. Among authors: fernandes sl. PLoS One. 2024 Jun 10;19(6):e0295985. doi: 10.1371/journal.pone.0295985. eCollection 2024. PLoS One. 2024. PMID: 38857224 Free PMC article.

8

Epidemiological and clinical trends of visceral leishmaniasis in Portugal: retrospective analysis of cases diagnosed in public hospitals between 2010 and 2020.

Rocha R, Conceição C, Gonçalves L; LeishPT group; Maia C. Rocha R, et al. Infect Dis Poverty. 2024 Jun 1;13(1):41. doi: 10.1186/s40249-024-01204-5. Infect Dis Poverty. 2024. PMID: 38822396 Free PMC article.

9

Motivational strategies used by health care professionals in stroke survivors in rehabilitation: a scoping review of experimental studies.

Fernandes JB, Fernandes S, Domingos J, Castro C, Romão A, Graúdo S, Rosa G, Franco T, Ferreira AP, Chambino C, Ferreira B, Courela S, Ferreira MJ, Silva I, Tiago V, Morais MJ, Casal J, Pereira S, Godinho C. Fernandes JB, et al. Among authors: fernandes s. Front Med (Lausanne). 2024 May 15;11:1384414. doi: 10.3389/fmed.2024.1384414. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38813377 Free PMC article.

10

Influenza A, influenza B, and SARS-COV-2 circulation patterns in midwest Brazil during the 2022-2023 period.

Franco FC, Souza M, Fernandes SM, Dias AC, Passos YG, Fiaccadori FS. Franco FC, et al. Among authors: fernandes sm. Braz J Microbiol. 2024 May 29. doi: 10.1007/s42770-024-01381-3. Online ahead of print. Braz J Microbiol. 2024. PMID: 38809495

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