Josahkian JA - Search Results

1

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103

2

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.

Oliveira Netto AB, Brusius-Facchin AC, Leistner-Segal S, Kubaski F, Josahkian J, Giugliani R. Oliveira Netto AB, et al. Front Mol Biosci. 2021 Nov 5;8:789350. doi: 10.3389/fmolb.2021.789350. eCollection 2021. Front Mol Biosci. 2021. PMID: 34805285 Free PMC article.

3

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.

Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.

4

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.

Diniz BL, Santos AS, Glaeser AB, Guaraná BB, Lorea CF, Josahkian JA, Huber J, Rosa RFM, Zen PRG. Diniz BL, et al. Among authors: josahkian ja. J Pediatr Genet. 2020 Dec;9(4):227-234. doi: 10.1055/s-0040-1713155. Epub 2020 Jun 17. J Pediatr Genet. 2020. PMID: 32733742 Free PMC article.

5

Increased STAT1 Expression in High Grade Serous Ovarian Cancer Is Associated With a Better Outcome.

Josahkian JA, Saggioro FP, Vidotto T, Ventura HT, Candido Dos Reis FJ, de Sousa CB, Tiezzi DG, de Andrade JM, Koti M, Squire JA. Josahkian JA, et al. Int J Gynecol Cancer. 2018 Mar;28(3):459-465. doi: 10.1097/IGC.0000000000001193. Int J Gynecol Cancer. 2018. PMID: 29303938

6

Current state of biomarkers in ovarian cancer prognosis.

Au KK, Josahkian JA, Francis JA, Squire JA, Koti M. Au KK, et al. Among authors: josahkian ja. Future Oncol. 2015;11(23):3187-95. doi: 10.2217/fon.15.251. Epub 2015 Nov 9. Future Oncol. 2015. PMID: 26551891 Review.

7

[Decline in the prevalence of HTLV-1/2 among blood donors at the Regional Blood Center of the City of Uberaba, State of Minas Gerais, from 1995 to 2008].

Lima GM, Eustáquio JM, Martins RA, Josahkian JA, Pereira Gde A, Moraes-Souza H, Martins PR. Lima GM, et al. Among authors: josahkian ja. Rev Soc Bras Med Trop. 2010 Jul-Aug;43(4):421-4. doi: 10.1590/s0037-86822010000400017. Rev Soc Bras Med Trop. 2010. PMID: 20802943 Free article. Portuguese.

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