Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

124 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R. Ribas GS, et al. Clin Chim Acta. 2016 Aug 1;459:57-62. doi: 10.1016/j.cca.2016.05.015. Epub 2016 May 24. Clin Chim Acta. 2016. PMID: 27234403 Free article. No abstract available.
CFTR gene: molecular analysis in patients from South Brazil.
Streit C, Burlamaque-Neto AC, de Abreu e Silva F, Giugliani R, Saraiva Pereira ML. Streit C, et al. Mol Genet Metab. 2003 Apr;78(4):259-64. doi: 10.1016/s1096-7192(03)00033-7. Mol Genet Metab. 2003. PMID: 12706377
Molecular characterization of phenylketonuria in South Brazil.
Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Santana da Silva LC, et al. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV. Artigalás O, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S257-62. doi: 10.1007/s10545-010-9140-4. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596894
Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.
Giacomazzi J, Aguiar E, Palmero EI, Schmidt AV, Skonieski G, Duarte Filho D, Bock H, Saraiva-Pereira ML, Schuler-Faccini L, Camey SA, Caleffi M, Giugliani R, Ashton-Prolla P. Giacomazzi J, et al. Braz J Med Biol Res. 2011 Apr;44(4):291-6. doi: 10.1590/s0100-879x2011007500029. Epub 2011 Mar 11. Braz J Med Biol Res. 2011. PMID: 21412660 Free article.
Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.
Giacomazzi J, Aguiar E, Palmero EI, Schmidt AV, Skonieski G, Filho DD, Bock H, Saraiva-Pereira ML, Ewald IP, Schuler-Faccini L, Camey SA, Caleffi M, Giugliani R, Ashton-Prolla P. Giacomazzi J, et al. Braz J Med Biol Res. 2012 Oct;45(10):891-7. doi: 10.1590/s0100-879x2012007500081. Epub 2012 May 17. Braz J Med Biol Res. 2012. PMID: 22584640 Free PMC article.
124 results