Honjo RS - Search Results

1

Lipoid proteinosis: rare case confirmed by ECM1 mutation detection.

Almeida TF, Soares DC, Quaio CR, Honjo RS, Bertola DR, McGrath JA, Kim CA. Almeida TF, et al. Among authors: honjo rs. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2314-5. doi: 10.1016/j.ijporl.2014.09.025. Epub 2014 Oct 2. Int J Pediatr Otorhinolaryngol. 2014. PMID: 25441608 No abstract available.

2

Proteus syndrome: report of a case with recurrent abdominal lipomatosis.

Furquim I, Honjo R, Bae R, Andrade W, Santos M, Tannuri U, Kim C. Furquim I, et al. J Pediatr Surg. 2009 Apr;44(4):E1-3. doi: 10.1016/j.jpedsurg.2008.12.016. J Pediatr Surg. 2009. PMID: 19361616

3

Spondylocostal dysostosis associated with methylmalonic aciduria.

Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA. Honjo RS, et al. Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069. Genet Test Mol Biomarkers. 2009. PMID: 19371216

4

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM. Bonaldi A, et al. Among authors: honjo rs. Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910219

5

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.

Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA. Dutra RL, et al. Among authors: honjo rs. BMC Res Notes. 2012 Jan 9;5:13. doi: 10.1186/1756-0500-5-13. BMC Res Notes. 2012. PMID: 22226172 Free PMC article.

6

The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome.

Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Honjo RS, Trigo-Rocha FE, Bruschini H, Srougi M. Sammour ZM, et al. Among authors: honjo rs. J Urol. 2012 Jul;188(1):253-7. doi: 10.1016/j.juro.2012.03.024. Epub 2012 May 15. J Urol. 2012. PMID: 22595063 Clinical Trial.

7

Ring chromosome 10: report on two patients and review of the literature.

Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI. Guilherme RS, et al. Among authors: honjo rs. J Appl Genet. 2013 Feb;54(1):35-41. doi: 10.1007/s13353-012-0128-7. Epub 2012 Dec 18. J Appl Genet. 2013. PMID: 23247912 Review.

8

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Carvalho E, et al. Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663181

9

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Costa LS, Zandona-Teixeira AC, Montenegro MM, Dias AT, Dutra RL, Honjo RS, Bertola DR, Kulikowski LD, Kim CA. Costa LS, et al. Among authors: honjo rs. Mol Cytogenet. 2015 Jun 26;8:43. doi: 10.1186/s13039-015-0142-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26120363 Free PMC article.

10

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Homma TK, et al. Among authors: honjo rs. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Clinical Trial.

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