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Page 1
Genetic investigation of syndromic forms of obesity.
Carvalho LML, D'Angelo CS, Villela D, da Costa SS, de Lima Jorge AA, da Silva IT, de Oliveira Scliar M, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: d angelo cs, villela d. Int J Obes (Lond). 2022 Sep;46(9):1582-1586. doi: 10.1038/s41366-022-01149-5. Epub 2022 May 21. Int J Obes (Lond). 2022. PMID: 35597848
A microdeletion in Alzheimer's disease disrupts NAMPT gene.
Villela D, Schlesinger D, Suemoto CK, Grinberg LT, Rosenberg C. Villela D, et al. J Genet. 2014 Aug;93(2):535-7. doi: 10.1007/s12041-014-0399-3. J Genet. 2014. PMID: 25189255 Free article. No abstract available.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Villela D, et al. Am J Med Genet A. 2021 Aug;185(8):2335-2344. doi: 10.1002/ajmg.a.62237. Epub 2021 May 14. Am J Med Genet A. 2021. PMID: 33988290
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: villela d. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Among authors: villela d. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
101 results