Boy R - Search Results

1

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG. Santos-Rebouças CB, et al. Among authors: boy r. Eur J Med Genet. 2023 Apr;66(4):104716. doi: 10.1016/j.ejmg.2023.104716. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731745

2

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB. Abdala BB, et al. Among authors: boy r. Eur J Med Genet. 2021 Dec;64(12):104367. doi: 10.1016/j.ejmg.2021.104367. Epub 2021 Oct 19. Eur J Med Genet. 2021. PMID: 34678473 Free article.

3

ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.

Gestinari-Duarte Rde S, Santos-Rebouças CB, Boy RT, Pimentel MM. Gestinari-Duarte Rde S, et al. Eur J Med Genet. 2006 May-Jun;49(3):269-75. doi: 10.1016/j.ejmg.2005.08.003. Epub 2005 Sep 26. Eur J Med Genet. 2006. PMID: 16762829

4

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Santos-Rebouças CB, Boy R, Vianna EQ, Gonçalves AP, Piergiorge RM, Abdala BB, Dos Santos JM, Calassara V, Machado FB, Medina-Acosta E, Pimentel MMG. Santos-Rebouças CB, et al. Among authors: boy r. Front Genet. 2020 Mar 4;11:101. doi: 10.3389/fgene.2020.00101. eCollection 2020. Front Genet. 2020. PMID: 32194616 Free PMC article.

5

Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.

Machado-Ferreira Mdo C, Costa-Lima MA, Boy RT, Esteves GS, Pimentel MM. Machado-Ferreira Mdo C, et al. Am J Med Genet A. 2004 Apr 30;126A(3):237-40. doi: 10.1002/ajmg.a.20585. Am J Med Genet A. 2004. PMID: 15054835

6

Finding FMR1 mosaicism in Fragile X syndrome.

Gonçalves TF, dos Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Pimentel MM, Santos-Rebouças CB. Gonçalves TF, et al. Among authors: boy r. Expert Rev Mol Diagn. 2016;16(4):501-7. doi: 10.1586/14737159.2016.1135739. Epub 2016 Feb 9. Expert Rev Mol Diagn. 2016. PMID: 26716517 Free PMC article.

7

Premature ovarian failure and FMR1 premutation co-segregation in a large Brazilian family.

Machado-Ferreira MC, Costa-Lima MA, Boy RT, Esteves GS, Pimentel MM. Machado-Ferreira MC, et al. Among authors: boy rt. Int J Mol Med. 2002 Aug;10(2):231-3. doi: 10.3892/ijmm.10.2.231. Int J Mol Med. 2002. PMID: 12119565

8

[Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients].

Boy R, Correia PS, Llerena JC, Machado-Ferreira Md, Pimentel MM. Boy R, et al. Arq Neuropsiquiatr. 2001 Mar;59(1):83-8. doi: 10.1590/s0004-282x2001000100017. Arq Neuropsiquiatr. 2001. PMID: 11299437 Free article. French.

9

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: boy r. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893

10

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, Acosta A, Giugliani R. Vieira T, et al. Among authors: boy r. Am J Med Genet A. 2008 Jul 1;146A(13):1741-7. doi: 10.1002/ajmg.a.32320. Am J Med Genet A. 2008. PMID: 18546277

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