Gil-da-Silva-Lopes VL - Search Results

1

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.

2

Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15).

Vulcani-Freitas TM, Gil-da-Silva-Lopes VL, Varella-Garcia M, Maciel-Guerra AT. Vulcani-Freitas TM, et al. J Appl Genet. 2006;47(1):89-91. doi: 10.1007/BF03194605. J Appl Genet. 2006. PMID: 16424615

3

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism.

Simioni M, Freitas EL, Vieira TP, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Simioni M, et al. J Appl Genet. 2010;51(2):219-21. doi: 10.1007/BF03195732. J Appl Genet. 2010. PMID: 20453311

4

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. 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.

5

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22820457 Free article.

6

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

7

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.

8

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.

Araújo TK, Simioni M, Félix TM, de Souza LT, Fontes MÍ, Monlleó IL, Souza J, Fett-Conte AC, Secolin R, Lopes-Cendes I, Maurer-Morelli CV, Gil-da-Silva-Lopes VL. Araújo TK, et al. Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27. Plast Surg Int. 2012. PMID: 23227324 Free PMC article.

9

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

10

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.

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