Krepischi ACV - Search Results

1

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

Fellows BJ, Tolezano GC, Pires SF, Ruegg MSG, Knapp KM, Krepischi ACV, Bicknell LS. Fellows BJ, et al. Among authors: krepischi acv. Am J Med Genet A. 2024 Mar;194(3):e63468. doi: 10.1002/ajmg.a.63468. Epub 2023 Nov 8. Am J Med Genet A. 2024. PMID: 37937525

2

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.

Morelle A, Cericatto R, Krepischi AC, Ruiz IR. Morelle A, et al. Springerplus. 2014 Aug 22;3:454. doi: 10.1186/2193-1801-3-454. eCollection 2014. Springerplus. 2014. PMID: 25184114 Free PMC article.

3

Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas.

Mariano FV, Gondak Rde O, Martins AS, Coletta RD, Paes de Almeida O, Kowalski LP, Krepischi AC, Altemani A. Mariano FV, et al. Histopathology. 2015 Sep;67(3):410-5. doi: 10.1111/his.12655. Epub 2015 Mar 12. Histopathology. 2015. PMID: 25600428

4

Genomic profile of a squamous cell carcinoma ex pleomorphic adenoma compared to a head and neck squamous cell carcinoma.

Mariano FV, Saccomani LFV, Giovanetti K, Del Negro A, Kowalski LP, Krepischi ACV, Altemani A. Mariano FV, et al. Among authors: krepischi acv. Braz J Otorhinolaryngol. 2018 May-Jun;84(3):393-397. doi: 10.1016/j.bjorl.2015.11.015. Epub 2016 Feb 24. Braz J Otorhinolaryngol. 2018. PMID: 26971044 Free PMC article. No abstract available.

5

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations.

de Araújo É, Marchi FA, Rodrigues TC, Vieira HC, Kuasne H, Achatz MI, Moredo LF, de Sá BC, Duprat JP, Brentani HP, Rosenberg C, Carraro DM, Krepischi AC. de Araújo É, et al. Exp Mol Pathol. 2014 Dec;97(3):425-32. doi: 10.1016/j.yexmp.2014.09.009. Epub 2014 Sep 16. Exp Mol Pathol. 2014. PMID: 25236571 Free article.

6

Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant transformation.

Mariano FV, Giovanetti K, Saccomani LF, Del Negro A, Kowalski LP, Krepischi AC, Altemani A. Mariano FV, et al. Braz J Otorhinolaryngol. 2016 Nov-Dec;82(6):687-694. doi: 10.1016/j.bjorl.2015.12.004. Epub 2016 Feb 24. Braz J Otorhinolaryngol. 2016. PMID: 26971045 Free PMC article.

7

MicroRNA copy number alterations in the malignant transformation of pleomorphic adenoma to carcinoma ex pleomorphic adenoma.

Kimura TC, Scarini JF, Lavareze L, Kowalski LP, Coutinho-Camillo CM, Krepischi ACV, Egal ESA, Altemani A, Mariano FV. Kimura TC, et al. Among authors: krepischi acv. Head Neck. 2024 May;46(5):985-1000. doi: 10.1002/hed.27717. Epub 2024 Mar 14. Head Neck. 2024. PMID: 38482546

8

Association of melanoma with intraepithelial neoplasia of the pancreas in three patients.

Fidalgo F, Gomes EE, Moredo Facure L, Da Silva FC, Carraro DM, de Sá BC, Duprat Neto JP, Krepischi AC. Fidalgo F, et al. Exp Mol Pathol. 2014 Aug;97(1):144-7. doi: 10.1016/j.yexmp.2014.06.013. Epub 2014 Jun 28. Exp Mol Pathol. 2014. PMID: 24984283 Free article.

9

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.

Oliveira D, Leal GF, Sertié AL, Caires LC Jr, Goulart E, Musso CM, Oliveira JRM, Krepischi ACV, Vianna-Morgante AM, Zatz M. Oliveira D, et al. Among authors: krepischi acv. J Med Genet. 2019 Aug;56(8):543-547. doi: 10.1136/jmedgenet-2018-105471. Epub 2018 Oct 9. J Med Genet. 2019. PMID: 30301738

10

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: krepischi acv. 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.

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