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[Treatment networks and associations of patients with rare diseases].
Cien Saude Colet. 2018 Oct;23(10):3247-3256. doi: 10.1590/1413-812320182310.14762018.
Cien Saude Colet. 2018.
PMID: 30365844
Free article.
Portuguese.
[Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System (SUS)].
Lima MA, Horovitz DD.
Lima MA, et al.
Cien Saude Colet. 2014 Feb;19(2):475-80. doi: 10.1590/1413-81232014192.15582012.
Cien Saude Colet. 2014.
PMID: 24863824
Free article.
Portuguese.
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TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.
Andrade RC, de Lima MAFD, de Faria PAS, Vargas FR.
Andrade RC, et al. Among authors: de lima mafd.
Fam Cancer. 2018 Jan;17(1):119-122. doi: 10.1007/s10689-017-9998-5.
Fam Cancer. 2018.
PMID: 28477317
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ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica.
Pereira FS, et al.
Cerebellum. 2015 Dec;14(6):728-30. doi: 10.1007/s12311-015-0666-8.
Cerebellum. 2015.
PMID: 25869926
No abstract available.
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Huntington disease and Huntington disease-like in a case series from Brazil.
Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB.
Castilhos RM, et al.
Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17.
Clin Genet. 2014.
PMID: 24102565
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WT1, WTX and CTNNB1 mutation analysis in 43 patients with sporadic Wilms' tumor.
Cardoso LC, De Souza KR, De O Reis AH, Andrade RC, Britto AC Jr, De Lima MA, Dos Santos AC, De Faria PS, Ferman S, Seuánez HN, Vargas FR.
Cardoso LC, et al.
Oncol Rep. 2013 Jan;29(1):315-20. doi: 10.3892/or.2012.2096. Epub 2012 Oct 19.
Oncol Rep. 2013.
PMID: 23117548
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Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, Peixoto A, Teixeira MR, Vargas FR.
Moreira MA, et al.
Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
Fam Cancer. 2012.
PMID: 22829013
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The Brazilian consensus on the management of Pompe disease.
Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, Martins AM; Brazilian Network for Studies in Pompe Disease (ReBrPOM).
Llerena JC Jr, et al.
J Pediatr. 2009 Oct;155(4 Suppl):S47-56. doi: 10.1016/j.jpeds.2009.07.006.
J Pediatr. 2009.
PMID: 19765410
Review.
No abstract available.
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