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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 2
2013 3
2014 1
2015 1
2016 1
2017 4
2018 2
2019 6
2020 4
2021 7
2022 6
2023 3
2024 1

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37 results

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Page 1
Gene-environment interactions and preterm birth predictors: A Bayesian network approach.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino VR, Uranga R, Málaga DR, Oliveira Netto AB, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: brusius facchin ac. Genet Mol Biol. 2024 Jan 19;46(4):e20230090. doi: 10.1590/1678-4685-GMB-2023-0090. eCollection 2024. Genet Mol Biol. 2024. PMID: 38285431 Free PMC article.
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Oliveira Netto AB, Brusius-Facchin AC, Lemos JF, Pasetto FB, Brasil CS, Trapp FB, Saute JAM, Donis KC, Becker MM, Wiest P, Coutinho VLS, Castro S, Ferreira J, Silveira C, Bittar MFR, Wang C, Lana JM, França Junior MC, Giugliani R. Oliveira Netto AB, et al. Among authors: brusius facchin ac. Genet Mol Biol. 2023 Dec 11;46(3 Suppl 1):e20230126. doi: 10.1590/1678-4685-GMB-2023-0126. eCollection 2023. Genet Mol Biol. 2023. PMID: 38091267 Free PMC article.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: brusius facchin ac. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC; Rare-Genomes Project Consortium; Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. Fussiger H, et al. Among authors: brusius facchin ac. Clin Genet. 2023 May;103(5):580-584. doi: 10.1111/cge.14280. Epub 2023 Jan 15. Clin Genet. 2023. PMID: 36537231
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R. Kubaski F, et al. Among authors: brusius facchin ac. Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x. Orphanet J Rare Dis. 2022. PMID: 36348386 Free PMC article.
Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino V, Uranga R, Málaga DR, Netto ABO, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: brusius facchin ac. J Community Genet. 2022 Dec;13(6):557-565. doi: 10.1007/s12687-022-00605-z. Epub 2022 Aug 17. J Community Genet. 2022. PMID: 35976607 Free PMC article.
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F, Burlina A, Polo G, Pereira D, Herbst ZM, Silva C, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Faqueti L, Iop GD, Poletto E, Giugliani R. Kubaski F, et al. Among authors: brusius facchin ac. Int J Neonatal Screen. 2022 Jun 28;8(3):39. doi: 10.3390/ijns8030039. Int J Neonatal Screen. 2022. PMID: 35892469 Free PMC article.
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
Kubaski F, Herbst ZM, Burin MG, Michelin-Tirelli K, Trapp FB, Gus R, Netto ABO, Brusius-Facchin AC, Leistner-Segal S, Sanseverino MT, de Souza CMF, Wilke MVMB, Oliveira T, Magalhães JAA, Giugliani R. Kubaski F, et al. Among authors: brusius facchin ac. JIMD Rep. 2022 Jan 19;63(2):162-167. doi: 10.1002/jmd2.12270. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281662 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: facchin acb. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
37 results