Gomy I - Search Results

1

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

Honjo RS, Dutra RL, Nunes MM, Gomy I, Kulikowski LD, Jehee FS, Kim CA. Honjo RS, et al. Among authors: gomy i. J Genet Genomics. 2012 Oct 20;39(10):571-4. doi: 10.1016/j.jgg.2012.07.001. Epub 2012 Jul 31. J Genet Genomics. 2012. PMID: 23089367 No abstract available.

2

A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.

Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA. Quaio CR, et al. Among authors: gomy i. Clinics (Sao Paulo). 2012 Aug;67(8):917-21. doi: 10.6061/clinics/2012(08)11. Clinics (Sao Paulo). 2012. PMID: 22948460 Free PMC article.

3

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: gomy i. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.

4

Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.

Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Gomy I, Bertola DR, Kim CA. Borlot F, et al. Among authors: gomy i. Am J Med Genet A. 2014 May;164A(5):1162-9. doi: 10.1002/ajmg.a.36424. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478273

5

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

Quaio CR, Grinberg H, Vieira ML, Paula AC, Leal GN, Gomy I, Leistner-Segal S, Giugliani R, Bertola DR, Kim CA. Quaio CR, et al. Among authors: gomy i. JIMD Rep. 2012;4:125-8. doi: 10.1007/8904_2011_90. Epub 2011 Nov 8. JIMD Rep. 2012. PMID: 23430907 Free PMC article.

6

Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights.

Gomy I, Heck B, Santos AC, Figueiredo MS, Martinelli CE Jr, Nogueira MP, Pina-Neto JM. Gomy I, et al. Am J Med Genet A. 2008 Mar 1;146A(5):649-57. doi: 10.1002/ajmg.a.32173. Am J Med Genet A. 2008. PMID: 18247421

7

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL. Perrone E, et al. Among authors: gomy i. Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381921

8

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA Jr. Gomy I, et al. Fam Cancer. 2010 Dec;9(4):635-42. doi: 10.1007/s10689-010-9357-2. Fam Cancer. 2010. PMID: 20567917

9

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era.

Gomy I, Diz Mdel P. Gomy I, et al. Genet Mol Biol. 2016 May 13;39(2):184-8. doi: 10.1590/1678-4685-GMB-2014-0346. Genet Mol Biol. 2016. PMID: 27192130 Free PMC article.

10

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM. Valentin MD, et al. Among authors: gomy i. Fam Cancer. 2011 Dec;10(4):641-7. doi: 10.1007/s10689-011-9461-y. Fam Cancer. 2011. PMID: 21681552

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