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Page 1
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MA, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: simioni m. Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21. Am J Med Genet A. 2011. PMID: 21948691 Free PMC article.
Atypical copy number abnormalities in 22q11.2 region: report of three cases.
Molck MC, Vieira TP, Sgardioli IC, Simioni M, Dos Santos AP, Souza J, Monteiro FP, Gil-da-Silva-Lopes VL. Molck MC, et al. Among authors: simioni m. Eur J Med Genet. 2013 Sep;56(9):515-20. doi: 10.1016/j.ejmg.2013.07.002. Epub 2013 Jul 23. Eur J Med Genet. 2013. PMID: 23886712 Free article.
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: simioni m. 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.
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Fontes MI, et al. Among authors: simioni m. Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Am J Med Genet A. 2016. PMID: 26638882 Review.
39 results