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Year | Number of Results |
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2017 | 2 |
2018 | 1 |
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Page 1
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Front Pharmacol. 2022 Oct 5;13:931089. doi: 10.3389/fphar.2022.931089. eCollection 2022.
Front Pharmacol. 2022.
PMID: 36278220
Free PMC article.
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ, Singh S, Ligabue-Braun R, Meneghetti BV, Rispoli T, Kopacek C, Monteiro K, Zaha A, Rossetti MLR, Pandey AV.
Prado MJ, et al.
Int J Mol Sci. 2021 Dec 28;23(1):296. doi: 10.3390/ijms23010296.
Int J Mol Sci. 2021.
PMID: 35008721
Free PMC article.
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Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ, de Castro SM, Kopacek C, de Mello MP, Rispoli T, Grandi T, da Silva CMD, Rossetti MLR.
Prado MJ, et al.
Mol Diagn Ther. 2017 Dec;21(6):663-675. doi: 10.1007/s40291-017-0296-6.
Mol Diagn Ther. 2017.
PMID: 28819757
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Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.
Rispoli T, Rodrigues GM, Prado MJ, Pinto LA, Rodrigues MT, Dullius CR, Grandi T, da Silva CMD, Vargas JE, Rigo MM, Rossetti ML.
Rispoli T, et al.
Mol Biol Rep. 2020 Aug;47(8):6463-6469. doi: 10.1007/s11033-020-05677-z. Epub 2020 Jul 31.
Mol Biol Rep. 2020.
PMID: 32712854
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Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Rispoli T, Rodrigues GM, de Castro SM, Prado MJ, da Silva CMD, Grandi T, Fischer GB, Pinto LA, Maróstica PJC, Scortegagna LCR, Mocelin HT, Vargas JE, Rossetti MLR.
Rispoli T, et al. Among authors: prado mj.
Mol Diagn Ther. 2020 Jun;24(3):315-325. doi: 10.1007/s40291-020-00456-9.
Mol Diagn Ther. 2020.
PMID: 32185651
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Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.
Kopacek C, de Castro SM, Prado MJ, da Silva CM, Beltrão LA, Spritzer PM.
Kopacek C, et al.
BMC Pediatr. 2017 Jan 17;17(1):22. doi: 10.1186/s12887-016-0772-x.
BMC Pediatr. 2017.
PMID: 28095810
Free PMC article.
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Kopacek C, Prado MJ, da Silva CMD, de Castro SM, Beltrão LA, Vargas PR, Grandi T, Rossetti MLR, Spritzer PM.
Kopacek C, et al. Among authors: prado mj.
J Pediatr (Rio J). 2019 May-Jun;95(3):282-290. doi: 10.1016/j.jped.2018.03.003. Epub 2018 Apr 30.
J Pediatr (Rio J). 2019.
PMID: 29715434
Free article.
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