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22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
de Wallau MB, Xavier AC, Moreno CA, Kim CA, Mendes EL, Ribeiro EM, Oliveira A, Félix TM, Fett-Conte AC, Bonadia LC, Correia-Costa GR, Monlleó IL, Gil-da-Silva-Lopes VL, Vieira TP. de Wallau MB, et al. Among authors: vieira tp. Genes (Basel). 2024 Apr 21;15(4):518. doi: 10.3390/genes15040518. Genes (Basel). 2024. PMID: 38674452 Free PMC article.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Among authors: vieira tp. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI. Guilherme RS, et al. Among authors: vieira tp. Am J Med Genet A. 2014 Jul;164A(7):1659-65. doi: 10.1002/ajmg.a.36512. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700634 Review.
Pure 21q22.3 deletion identified in a patient with mild phenotypic features.
Sgardioli IC, Copelli MM, Lustosa-Mendes E, Vieira TP, Gil-da-Silva-Lopes VL. Sgardioli IC, et al. Among authors: vieira tp. Congenit Anom (Kyoto). 2018 Sep;58(5):178-180. doi: 10.1111/cga.12270. Epub 2018 Feb 1. Congenit Anom (Kyoto). 2018. PMID: 29322562 No abstract available.
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Among authors: vieira tp. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):970-985. doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33215817 Review.
40 results