Gil-da-Silva-Lopes VL - Search Results

1

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

Sgardioli IC, de Mello Copelli M, Monteiro FP, Dos Santos AP, Lustosa Mendes E, Paiva Vieira T, Gil-da-Silva-Lopes VL. Sgardioli IC, et al. Mol Syndromol. 2017 Aug;8(5):244-252. doi: 10.1159/000477598. Epub 2017 Jun 24. Mol Syndromol. 2017. PMID: 28878608 Free PMC article.

2

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.

Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL. Simioni M, et al. Am J Med Genet A. 2012 Nov;158A(11):2905-10. doi: 10.1002/ajmg.a.35603. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991255

3

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay.

dos Santos AP, Vieira TP, Simioni M, Monteiro FP, Gil-da-Silva-Lopes VL. dos Santos AP, et al. Gene. 2013 Jan 25;513(2):301-4. doi: 10.1016/j.gene.2012.09.008. Epub 2012 Sep 29. Gene. 2013. PMID: 23031812 Free article.

4

Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

Vieira TP, Sgardioli IC, Gil-da-Silva-Lopes VL. Vieira TP, et al. J Community Genet. 2013 Jan;4(1):99-106. doi: 10.1007/s12687-012-0123-z. Epub 2012 Oct 21. J Community Genet. 2013. PMID: 23086469 Free PMC article.

5

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. 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

6

A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.

Sgardioli IC, Simioni M, Viguetti-Campos NL, Prota JR, Gil-da-Silva-Lopes VL. Sgardioli IC, et al. Gene. 2013 Jul 10;523(2):192-4. doi: 10.1016/j.gene.2013.03.115. Epub 2013 Apr 6. Gene. 2013. PMID: 23566844 Free article.

7

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. 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.

8

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.

Vieira TP, Monteiro FP, Sgardioli IC, Souza J, Fett-Conte AC, Monlleó IL, Fontes MB, Félix TM, Leal GF, Ribeiro EM, Gil-da-Silva-Lopes VL. Vieira TP, et al. Cleft Palate Craniofac J. 2015 Jul;52(4):411-6. doi: 10.1597/13-233. Epub 2014 May 7. Cleft Palate Craniofac J. 2015. PMID: 24805874

9

Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.

Molck MC, Vieira TP, Simioni M, Sgardioli IC, dos Santos AP, Xavier AC, Gil-da-Silva-Lopes VL. Molck MC, et al. Am J Med Genet A. 2015 Jan;167A(1):215-20. doi: 10.1002/ajmg.a.36809. Epub 2014 Oct 30. Am J Med Genet A. 2015. PMID: 25358462

10

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.

Molck MC, Monteiro FP, Simioni M, Gil-da-Silva-Lopes VL. Molck MC, et al. J Dev Behav Pediatr. 2015 Sep;36(7):544-8. doi: 10.1097/DBP.0000000000000197. J Dev Behav Pediatr. 2015. PMID: 26263419

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