Gil-da-Silva-Lopes VL - Search Results

1

Genomic imbalances in syndromic congenital heart disease.

Molck MC, Simioni M, Paiva Vieira T, Sgardioli IC, Paoli Monteiro F, Souza J, Fett-Conte AC, Félix TM, Lopes Monlléo I, Gil-da-Silva-Lopes VL. Molck MC, et al. J Pediatr (Rio J). 2017 Sep-Oct;93(5):497-507. doi: 10.1016/j.jped.2016.11.007. Epub 2017 Mar 21. J Pediatr (Rio J). 2017. PMID: 28336264 Free article.

2

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.

Copelli MM, Pairet E, Atique-Tacla M, Vieira TP, Appenzeller S, Helaers R, Vikkula M, Gil-da-Silva-Lopes VL. Copelli MM, et al. Genes (Basel). 2023 Apr 8;14(4):882. doi: 10.3390/genes14040882. Genes (Basel). 2023. PMID: 37107640 Free PMC article. Review.

3

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP. Correia-Costa GR, et al. Genes (Basel). 2022 Dec 16;13(12):2377. doi: 10.3390/genes13122377. Genes (Basel). 2022. PMID: 36553645 Free PMC article. Review.

4

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

5

Time of diagnosis of oral clefts: a multicenter study.

Amstalden-Mendes LG, Xavier AC, Antunes DK, Ferreira AC, Tonocchi R, Fett-Conte AC, Silva RN, Leirião VH, Caramori LP, Magna LA, Gil-da-Silva-Lopes VL. Amstalden-Mendes LG, et al. J Pediatr (Rio J). 2011 May-Jun 8;87(3):225-30. doi: 10.2223/JPED.2084. Epub 2011 Apr 28. J Pediatr (Rio J). 2011. PMID: 21528156 English, Portuguese.

6

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.

7

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.

8

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

9

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.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

104 results

Search Page

Filters