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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.
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.
Chehimi SN, Almeida VT, Nascimento AM, Zanardo ÉA, de Oliveira YG, Carvalho GFDS, Wolff BM, Montenegro MM, de Assunção NA, Kim CA, Kulikowski LD. Chehimi SN, et al. Among authors: montenegro mm. Clinics (Sao Paulo). 2022 May 28;77:100045. doi: 10.1016/j.clinsp.2022.100045. eCollection 2022. Clinics (Sao Paulo). 2022. PMID: 35640457 Free PMC article.
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
Montenegro MM, Quaio CR, Palmeira P, Gasparini Y, Rangel-Santos A, Damasceno J, Novak EM, Gimenez TM, Yamamoto GL, Ronjo RS, Novo-Filho GM, Chehimi SN, Zanardo EA, Dias AT, Nascimento AM, Costa TVMM, Duarte AJDS, Coutinho LL, Kim CA, Kulikowski LD. Montenegro MM, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1133. doi: 10.1002/mgg3.1133. Epub 2020 Feb 19. Mol Genet Genomic Med. 2020. PMID: 32073752 Free PMC article.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: montenegro mm. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.
Almeida VT, Chehimi SN, Gasparini Y, Nascimento AM, Carvalho GFS, Montenegro MM, Zanardo ÉA, Dias AT, Assunção NA, Kim CA, Kulikowski LD. Almeida VT, et al. Among authors: montenegro mm. Mol Syndromol. 2023 Jan;13(6):527-536. doi: 10.1159/000524371. Epub 2022 May 18. Mol Syndromol. 2023. PMID: 36660031 Free PMC article.
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
46 results