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TNFa-e Microsatellite, HLA-DRB1 and -DQB1 Alleles and Haplotypes in Brazilian Patients Presenting Recently Diagnosed Type 1 Diabetes Mellitus.
Published in:
Annals of the New York Academy of Sciences, 2006, v. 1079, n. 1, p. 300, doi. 10.1196/annals.1375.045
By:
- RASSI, DIANE M.;
- WASTOWSKI, ISABELA J.;
- SIMÕES, RENATA T.;
- RODRIGUES, SANDRA;
- DEGHAIDE, NEIFE N.H.S.;
- MENDES‐JUNIOR, CELSO T.;
- SIMÕES, AGUINALDO L.;
- SOARES, C.P.;
- PASSOS, GERALDO A.S.;
- DONADI, EDUARDO A.
Publication type:
Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
By:
- Soens, Zachry T.;
- Branch, Justin;
- Wu, Shijing;
- Yuan, Zhisheng;
- Li, Yumei;
- Li, Hui;
- Wang, Keqing;
- Xu, Mingchu;
- Rajan, Lavan;
- Motta, Fabiana L.;
- Simões, Renata T.;
- Lopez‐Solache, Irma;
- Ajlan, Radwan;
- Birch, David G.;
- Zhao, Peiquan;
- Porto, Fernanda B.;
- Sallum, Juliana;
- Koenekoop, Robert K.;
- Sui, Ruifang;
- Chen, Rui
Publication type:
Article
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Published in:
Genes, 2017, v. 8, n. 12, p. 355, doi. 10.3390/genes8120355
By:
- Porto, Fernanda B. O.;
- Jones, Evan M.;
- Branch, Justin;
- Soens, Zachry T.;
- Maia, Igor Mendes;
- Sena, Isadora F. G.;
- Sampaio, Shirley A. M.;
- Simões, Renata T.;
- Chen, Rui
Publication type:
Article

Found: 3

TNFa-e Microsatellite, HLA-DRB1 and -DQB1 Alleles and Haplotypes in Brazilian Patients Presenting Recently Diagnosed Type 1 Diabetes Mellitus.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.