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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Among authors: silva to. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. Among authors: silva to. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
Portich JP, Ribeiro AS, Rodrigues Taniguchi AN, Backes A, de Souza CFM, Kieling CO, Scherer FF, de Oliveira Poswar F, Leipnitz I, Doederlein Schwartz IV, Sekine L, Rigoni LDC, Marquardt da Silveira L, de Almeida Furlanetto M, Adami MR, Breunig RC, Guedes RR, do Amaral SN, Gonçalves Vieira SM, de Brum Soares T, Silva TO, da Rocha Silla LM, Astigarraga CC, Paz AA, Daudt LE. Portich JP, et al. Among authors: silva to. J Pediatr Hematol Oncol. 2023 Oct 1;45(7):416-422. doi: 10.1097/MPH.0000000000002738. Epub 2023 Aug 3. J Pediatr Hematol Oncol. 2023. PMID: 37539993 Review.
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Magalhães APPS, Burin MG, Souza CFM, de Bitencourt FH, Sebastião FM, Silva TO, Vairo FPE, Schwartz IVD. Magalhães APPS, et al. Among authors: silva to. J Pediatr (Rio J). 2020 Nov-Dec;96(6):710-716. doi: 10.1016/j.jped.2019.05.008. Epub 2019 Oct 31. J Pediatr (Rio J). 2020. PMID: 31677975 Free PMC article.
Position Statement on the Use of Myocardial Strain in Cardiology Routines by the Brazilian Society of Cardiology's Department Of Cardiovascular Imaging - 2023.
Almeida ALC, Melo MDT, Bihan DCSL, Vieira MLC, Pena JLB, Del Castillo JM, Abensur H, Hortegal RA, Otto MEB, Piveta RB, Dantas MR, Assef JE, Beck ALS, Santo THCE, Silva TO, Salemi VMC, Rocon C, Lima MSM, Barberato SH, Rodrigues AC, Rabschkowisky A, Frota DDCR, Gripp EA, Barretto RBM, Silva SME, Cauduro SA, Pinheiro AC, Araujo SP, Tressino CG, Silva CES, Monaco CG, Paiva MG, Fisher CH, Alves MSL, Grau CRPC, Santos MVCD, Guimarães ICB, Morhy SS, Leal GN, Soares AM, Cruz CBBV, Guimarães Filho FV, Assunção BMBL, Fernandes RM, Saraiva RM, Tsutsui JM, Soares FLJ, Falcão SNDRS, Hotta VT, Armstrong ADC, Hygidio DA, Miglioranza MH, Camarozano AC, Lopes MMU, Cerci RJ, Siqueira MEM, Torreão JA, Rochitte CE, Felix A. Almeida ALC, et al. Among authors: silva to. Arq Bras Cardiol. 2023 Dec;120(12):e20230646. doi: 10.36660/abc.20230646. Arq Bras Cardiol. 2023. PMID: 38232246 Free PMC article. English, Portuguese.
Validation of the use of dried blood spots in a chikungunya virus IgG serological assay.
Magalhaes T, Portilho MM, Moreira PSS, Marinho ML, Dias WP, Gonçalves NM, Rodrigues OAS, Montes J, Reis L, Jesus DF, Silva TO, Dultra LS, Nery JS, Ribeiro GS. Magalhaes T, et al. Among authors: silva to. J Immunol Methods. 2023 Nov;522:113571. doi: 10.1016/j.jim.2023.113571. Epub 2023 Sep 22. J Immunol Methods. 2023. PMID: 37742825
Association of physical activity and sitting with metabolic syndrome and hyperglycemic clamp parameters in adolescents - BRAMS pediatric study.
Silva TO, Norde MM, Vasques AC, Zambom MP, Antonio MARGM, Rodrigues AMB; BRAMS group; Geloneze B; Brazilian Metabolic Syndrome Study investigators. Silva TO, et al. Front Endocrinol (Lausanne). 2023 Jun 15;14:1191935. doi: 10.3389/fendo.2023.1191935. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37396186 Free PMC article.
40 results