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Page 1
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
de Oliveira JF, do Prado PFV, da Costa SS, Sforça ML, Canateli C, Ranzani AT, Maschietto M, de Oliveira PSL, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. de Oliveira JF, et al. Among authors: da costa ss. Nat Chem Biol. 2019 Jan;15(1):62-70. doi: 10.1038/s41589-018-0177-2. Epub 2018 Dec 10. Nat Chem Biol. 2019. PMID: 30531907 Free PMC article.
Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: da costa ss, da silva it. J Intellect Disabil Res. 2021 Dec;65(12):1049-1057. doi: 10.1111/jir.12891. Epub 2021 Oct 28. J Intellect Disabil Res. 2021. PMID: 34713510 Review.
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: da costa ss. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV. Pires SF, et al. Among authors: da costa ss. Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3. Pediatr Blood Cancer. 2020. PMID: 32748512 No abstract available.
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: da costa ss, da silva it. 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
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV. Tolezano GC, et al. Among authors: da costa ss. J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11. J Autism Dev Disord. 2024. PMID: 36502452 Review.
65 results