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Page 1
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
Montenegro MM, Camilotti D, Quaio CRDC, Gasparini Y, Zanardo ÉA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento A, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Montenegro MM, et al. J Pediatr. 2023 Jan;252:56-60.e2. doi: 10.1016/j.jpeds.2022.08.051. Epub 2022 Sep 5. J Pediatr. 2023. PMID: 36067875
Post-mortem cytogenomic investigations in patients with congenital malformations.
Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Dias AT, et al. Among authors: montenegro mm. Exp Mol Pathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003. Epub 2016 Jul 20. Exp Mol Pathol. 2016. PMID: 27450648
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.
Zanardo ÉA, Dutra RL, Piazzon FB, Dias AT, Novo-Filho GM, Nascimento AM, Montenegro MM, Damasceno JG, Madia FAR, da Costa TVMM, Melaragno MI, Kim CA, Kulikowski LD. Zanardo ÉA, et al. Among authors: montenegro mm. Clinics (Sao Paulo). 2017 Oct;72(9):526-537. doi: 10.6061/clinics/2017(09)02. Clinics (Sao Paulo). 2017. PMID: 29069255 Free PMC article.
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.
Ceroni JRM, Dutra RL, Honjo RS, Llerena JC Jr, Acosta AX, Medeiros PFV, Galera MF, Zanardo ÉA, Piazzon FB, Dias AT, Novo-Filho GM, Montenegro MM, Madia FAR, Bertola DR, de Melo JB, Kulikowski LD, Kim CA. Ceroni JRM, et al. Among authors: montenegro mm. Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2. Sci Rep. 2018. PMID: 30190605 Free PMC article.
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.
Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JRM, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TVMM, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD. Gasparini Y, et al. Among authors: montenegro mm. Cytogenet Genome Res. 2019;157(3):153-157. doi: 10.1159/000498836. Epub 2019 Apr 2. Cytogenet Genome Res. 2019. PMID: 30933946
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
Chehimi SN, Zanardo ÉA, Ceroni JRM, Nascimento AM, Madia FAR, Dias AT, Filho GMN, Montenegro MM, Damasceno J, Costa TVMM, Gasparini Y, Kim CA, Kulikowski LD. Chehimi SN, et al. Among authors: montenegro mm. Mol Genet Genomic Med. 2020 Feb;8(2):e957. doi: 10.1002/mgg3.957. Epub 2019 Sep 30. Mol Genet Genomic Med. 2020. PMID: 31568707 Free PMC article.
46 results