S100B como marcador de lesão neural : estudos em pacientes com Síndrome de Down, com defeitos do tubo neural e de secreção pelo tecido adiposo

Autor: Netto, Cristina Brinckmann Oliveira

Publikováno v: Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.

As proteínas S100 são uma família de proteínas ligantes de Ca2+ com ampla distribuição ao longo dos tecidos de vertebrados. O gene da proteína S100B está localizado no cromossomo 21, e ela é expressa principalmente em astrócitos, estando en

Externí odkaz: http://hdl.handle.net/10183/85362

Maple syrup urine disease in Brazil: a panorama of the last two decades

Autor: Herber, Silvani, Schwartz, Ida Vanessa D., Nalin, Tatiéle, Netto, Cristina Brinkmann Oliveira, Camelo Junior, José Simon, Santos, Mara Lúcia, Ribeiro, Erlane Marques, Schüler‐Faccini, Lavinia, Souza, Carolina Fischinger Moura de

Publikováno v: In Jornal de Pediatria (Versao en Portugues) May-June 2015 91(3):292-298

Gaucher disease type I: Assessment of basal metabolic rate in patients from southern Brazil

Autor: Doneda, Divair, Lopes, André L., Oliveira, Álvaro R., Netto, Cristina B., Moulin, Cileide C., Schwartz, Ida V.D.

Publikováno v: In Blood Cells, Molecules and Diseases 2011 46(1):42-46

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

Autor: Gomes,Renan, Soares,Barbara Luisa, Felicio,Paula Silva, Michelli,Rodrigo, Netto,Cristina B. O., Alemar,Barbara, Ashton-Prolla,Patrícia, Palmero,Edenir Inêz, Moreira,Miguel Ângelo Martins

Publikováno v: Genetics and Molecular Biology, Volume: 43, Issue: 2, Article number: e20190072, Published: 20 MAY 2020
Genetics and Molecular Biology v.43 n.2 2020
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a0a4975470f7965b46b7edcaa10cc8a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400106&lng=en&tlng=en

FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER

Autor: Netto, Cristina, Burin, Maira, Jardim, Laura, Tsao, Marilyn, Pereira, Fernanda, Matte, Ursula, Giugliani, Roberto, Barros, Elvino, Porsch, Daiana, Milani, Vagner, Rossato, Liana, Nunes, Ane

Publikováno v: Clinical & Biomedical Research; Vol. 26 No. 3 (2006): Revista HCPA
Clinical and Biomedical Research; v. 26 n. 3 (2006): Revista HCPA
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Clinical & Biomedical Research; v. 26, n. 3 (2006): Revista HCPA
Clinical and Biomedical Research; v. 26, n. 3 (2006): Revista HCPA

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::15b79f3e12042e7517de1e018622a8b1
https://seer.ufrgs.br/index.php/hcpa/article/view/99975