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miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes.
de Carvalho JB, de Morais GL, Vieira TCDS, Rabelo NC, Llerena JC Jr, Gonzalez SMC, de Vasconcelos ATR. de Carvalho JB, et al. Among authors: llerena jc jr. Front Genet. 2019 Nov 13;10:1144. doi: 10.3389/fgene.2019.01144. eCollection 2019. Front Genet. 2019. PMID: 31798637 Free PMC article.
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.
Ceroni JRM, Dutra RL, Honjo RS, Llerena JC Jr, Acosta AX, Medeiros PFV, Galera MF, Zanardo ÉA, Piazzon FB, Dias AT, Novo-Filho GM, Montenegro MM, Madia FAR, Bertola DR, de Melo JB, Kulikowski LD, Kim CA. Ceroni JRM, et al. Among authors: llerena jc jr. Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2. Sci Rep. 2018. PMID: 30190605 Free PMC article.
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
Gomes MES, Kanazawa TY, Riba FR, Pereira NG, Zuma MCC, Rabelo NC, Sanseverino MT, Horovitz DDG, Llerena JC Jr, Cavalcanti DP, Gonzalez S. Gomes MES, et al. Among authors: llerena jc jr. Mol Syndromol. 2018 Feb;9(2):92-99. doi: 10.1159/000486697. Epub 2018 Feb 2. Mol Syndromol. 2018. PMID: 29593476 Free PMC article.
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Barth AL, de Magalhães TSPC, Reis ABR, de Oliveira ML, Scalco FB, Cavalcanti NC, Silva DSE, Torres DA, Costa AAP, Bonfim C, Giugliani R, Llerena JC Jr, Horovitz DDG. Barth AL, et al. Among authors: llerena jc jr. Mol Genet Metab Rep. 2017 Jun 8;12:62-68. doi: 10.1016/j.ymgmr.2017.05.010. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28649514 Free PMC article.
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
Sixel BS, Silva LD, Cavalcanti NC, Penque GM, Lisboa S, Horovitz DD, Llerena JC Jr. Sixel BS, et al. Among authors: llerena jc jr. J Bras Pneumol. 2017 Jan-Feb;43(1):54-59. doi: 10.1590/S1806-37562015000000343. J Bras Pneumol. 2017. PMID: 28380188 Free PMC article.
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.
Brizola E, Mattos EP, Ferrari J, Freire PO, Germer R, Llerena JC Jr, Félix TM. Brizola E, et al. Among authors: llerena jc jr. Mol Syndromol. 2015 Oct;6(4):164-72. doi: 10.1159/000439506. Epub 2015 Sep 3. Mol Syndromol. 2015. PMID: 26648832 Free PMC article.
Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc.
Llerena JC Jr, Esposito AC, Barth A, Scalco F, Oliveira ML, Horotvitz D. Llerena JC Jr, et al. J Neuromuscul Dis. 2015;2(s1):S47. J Neuromuscul Dis. 2015. PMID: 27858640 No abstract available.
Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings - Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease.
Llerena JC Jr, Esposito AC, Barth A, Souza E Silva D, Cavalcanti N, Sixel B, Magalhães T, Scalco F, Oliveira ML, Riello AP, Horotvitz D. Llerena JC Jr, et al. J Neuromuscul Dis. 2015;2(s1):S24. J Neuromuscul Dis. 2015. PMID: 27858620 No abstract available.
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.
Vieira DK, Attianezi M, Esposito AC, Barth A, Sequeira C, Krause N, Oliveira V, Lucidi A, Serao C, Llerena JC Jr. Vieira DK, et al. Among authors: llerena jc jr. J Community Genet. 2015 Jan;6(1):9-16. doi: 10.1007/s12687-014-0196-y. Epub 2014 Jul 26. J Community Genet. 2015. PMID: 25063732 Free PMC article.
Molecular analysis of holoprosencephaly in South America.
Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM. Savastano CP, et al. Among authors: llerena jc jr. Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62. doi: 10.1590/s1415-47572014000200011. Genet Mol Biol. 2014. PMID: 24764759 Free PMC article.
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