Fernandes S - Search Results

1

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

2

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.

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

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.

5

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

6

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.

7

Application of CytoPath®Easy Vials in Cervical Cancer Screening: Self-Sampling Approach.

Fernandes SPM, Vilarinho AS, Frutuoso A, Teixeira C, Silva RAAP. Fernandes SPM, et al. J Cytol. 2024 Apr-Jun;41(2):67-74. doi: 10.4103/joc.joc_108_23. Epub 2024 Apr 24. J Cytol. 2024. PMID: 38779609 Free PMC article.

8

Characteristics and outcomes of COVID-19 patients admitted to hospital with and without respiratory symptoms.

Citarella BW, Kartsonaki C, Ibáñez-Prada ED, Gonçalves BP, Baruch J, Escher M, Pritchard MG, Wei J, Philippy F, Dagens A, Hall M, Lee J, Kutsogiannis DJ, Wils EJ, Fernandes MA, Tirupakuzhi Vijayaraghavan BK, Panda PK, Martin-Loeches I, Ohshimo S, Fatoni AZ, Horby P, Dunning J, Rello J, Merson L, Rojek A, Vaillant M, Olliaro P, Reyes LF; ISARIC Clinical Characterisation Group. Citarella BW, et al. Heliyon. 2024 May 4;10(10):e29591. doi: 10.1016/j.heliyon.2024.e29591. eCollection 2024 May 30. Heliyon. 2024. PMID: 38779000 Free PMC article.

9

Increasing dietary fiber intake for type 2 diabetes mellitus management: A systematic review.

Nitzke D, Czermainski J, Rosa C, Coghetto C, Fernandes SA, Carteri RB. Nitzke D, et al. Among authors: fernandes sa. World J Diabetes. 2024 May 15;15(5):1001-1010. doi: 10.4239/wjd.v15.i5.1001. World J Diabetes. 2024. PMID: 38766430 Free PMC article.

10

The degree of bowel remission predicts phenotype progression in Crohn's disease.

Fernandes SR, Bernardo S, Saraiva S, Gonçalves AR, Moura Santos P, Valente A, Araújo Correia L, Cortez-Pinto H, Magro F. Fernandes SR, et al. United European Gastroenterol J. 2024 May 16. doi: 10.1002/ueg2.12581. Online ahead of print. United European Gastroenterol J. 2024. PMID: 38753521 Free article.

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