Krepischi A - Search Results

1

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.

Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. Among authors: krepischi a. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.

2

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK. Bandeira G, et al. Among authors: krepischi a. Breast Cancer. 2021 Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1. Epub 2020 Sep 28. Breast Cancer. 2021. PMID: 32986223

3

Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML.

Silva AG, Maschietto M, Vidal DO, Peliçario LM, Velloso ED, Lopes LF, Krepischi AC, Rosenberg C. Silva AG, et al. Med Oncol. 2013 Dec;30(4):734. doi: 10.1007/s12032-013-0734-1. Epub 2013 Oct 2. Med Oncol. 2013. PMID: 24085545

4

Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia.

Costa AR, Vasudevan A, Krepischi A, Rosenberg C, Chauffaille Mde L. Costa AR, et al. Among authors: krepischi a. Med Oncol. 2013;30(2):579. doi: 10.1007/s12032-013-0579-7. Epub 2013 May 1. Med Oncol. 2013. PMID: 23636907

5

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene.

Villela D, Kimura L, Schlesinger D, Gonçalves A, Pearson PL, Suemoto CK, Pasqualucci C, Krepischi AC, Grinberg LT, Rosenberg C. Villela D, et al. Among authors: krepischi ac. Genet Mol Biol. 2013 Dec;36(4):498-501. doi: 10.1590/S1415-47572013000400006. Epub 2013 Nov 8. Genet Mol Biol. 2013. PMID: 24385851 Free PMC article.

6

Genomic copy number alterations in non-syndromic hearing loss.

Rosenberg C, Freitas ÉL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi AC, Mingroni-Netto RC. Rosenberg C, et al. Among authors: krepischi ac. Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10. Clin Genet. 2016. PMID: 26456090

7

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22820457 Free article.

8

An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.

Cappi C, Hounie AG, Mariani DB, Diniz JB, Silva AR, Reis VN, Busso AF, Silva AG, Fidalgo F, Rogatto SR, Miguel EC, Krepischi AC, Brentani H. Cappi C, et al. PLoS One. 2014 Oct 10;9(10):e110198. doi: 10.1371/journal.pone.0110198. eCollection 2014. PLoS One. 2014. PMID: 25303678 Free PMC article.

9

First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.

Aguiar TFM, Rivas MP, de Andrade Silva EM, Pires SF, Dangoni GD, Macedo TC, Defelicibus A, Barros BDF, Novak E, Cristofani LM, Odone V, Cypriano M, de Toledo SRC, da Cunha IW, da Costa CML, Carraro DM, Tojal I, de Oliveira Mendes TA, Krepischi ACV. Aguiar TFM, et al. Among authors: krepischi acv. Biochem Genet. 2024 Apr 22. doi: 10.1007/s10528-024-10764-y. Online ahead of print. Biochem Genet. 2024. PMID: 38649558

10

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

da Costa SS, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. da Costa SS, et al. Among authors: krepischi acv. Chromosome Res. 2024 Mar 19;32(2):6. doi: 10.1007/s10577-024-09750-2. Chromosome Res. 2024. PMID: 38504027

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