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Year Number of Results
2015 2
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2019 4
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21 results

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Page 1
Maple syrup urine disease: mechanisms and management.
Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Blackburn PR, et al. Among authors: vairo fpe. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Appl Clin Genet. 2017. PMID: 28919799 Free PMC article. Review.
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP, Altmann V, Vairo FPE, Schwartz IVD, Siebert M; MilitaoBrazilian Collaborative Group on Gaucher Disease. Basgalupp SP, et al. Among authors: vairo fpe. Mol Genet Metab Rep. 2023 Sep 9;37:101006. doi: 10.1016/j.ymgmr.2023.101006. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053927 Free PMC article.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Kobren SN, et al. Nat Commun. 2025 Aug 7;16(1):7267. doi: 10.1038/s41467-025-61712-2. Nat Commun. 2025. PMID: 40770127 Free PMC article.
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
Mangaonkar AA, Ferrer A, Vairo FPE, Hammel CW, Prochnow C, Gangat N, Hogan WJ, Litzow MR, Peters SG, Scott JP, Utz JP, Baqir M, Carmona-Porquera EM, Kalra S, Sekiguchi H, Khan SP, Simonetto DA, Klee EW, Kamath PS, Roden AC, Joshi AY, Kennedy CC, Wylam ME, Patnaik MM. Mangaonkar AA, et al. Among authors: vairo fpe. Blood Cancer J. 2021 Oct 22;11(10):170. doi: 10.1038/s41408-021-00564-7. Blood Cancer J. 2021. PMID: 34686653 Free PMC article. No abstract available.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: vairo fpe. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
21 results