Honjo RS - Search Results

1

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Di Lazzaro Filho R, et al. Among authors: honjo rs. J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055165

2

Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.

Bertola DR, Antequera R, Rodovalho MJ, Honjo RS, Albano LM, Furquim IM, Oliveira LA, Kim CA. Bertola DR, et al. Among authors: honjo rs. Am J Med Genet A. 2009 Mar;149A(3):532-4. doi: 10.1002/ajmg.a.32661. Am J Med Genet A. 2009. PMID: 19213025 No abstract available.

3

Angiokeratoma: a cutaneous marker of Fabry's disease.

Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA. Albano LM, et al. Among authors: honjo rs. Clin Exp Dermatol. 2010 Jul;35(5):505-8. doi: 10.1111/j.1365-2230.2009.03721.x. Epub 2009 Oct 19. Clin Exp Dermatol. 2010. PMID: 19843083

4

Dental evaluation of Kabuki syndrome patients.

Teixeira CS, Silva CR, Honjo RS, Bertola DR, Albano LM, Kim CA. Teixeira CS, et al. Among authors: honjo rs. Cleft Palate Craniofac J. 2009 Nov;46(6):668-73. doi: 10.1597/08-077.1. Epub 2009 May 17. Cleft Palate Craniofac J. 2009. PMID: 19860501

5

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA. Dutra RL, et al. Among authors: honjo rs. Clinics (Sao Paulo). 2011;66(6):959-64. doi: 10.1590/s1807-59322011000600007. Clinics (Sao Paulo). 2011. PMID: 21808859 Free PMC article.

6

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.

Kelmann SV, Quaio CR, Honjo RS, Bertola DR, Rosa Neto NS, Lourenço CM, d'Almeida V, Lellis RF, Rivitti-Machado MC, Enokihara MM, Michalany NS, Kim CA. Kelmann SV, et al. Among authors: honjo rs. Int J Dermatol. 2015 Jun;54(6):e241-4. doi: 10.1111/ijd.12713. Epub 2015 Mar 16. Int J Dermatol. 2015. PMID: 25778427 No abstract available.

7

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS, Kulikowski LD, Bertola DR, Kim CA. Honjo RS, et al. Biomed Res Int. 2015;2015:903175. doi: 10.1155/2015/903175. Epub 2015 May 18. Biomed Res Int. 2015. PMID: 26090456 Free PMC article.

8

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

Costa LS, Pegler SP, Lellis RF, Krebs VL, Robertson S, Morgan T, Honjo RS, Bertola DR, Kim CA. Costa LS, et al. Among authors: honjo rs. Rev Assoc Med Bras (1992). 2015 Sep-Oct;61(5):407-10. doi: 10.1590/1806-9282.61.05.407. Rev Assoc Med Bras (1992). 2015. PMID: 26603002 Free article.

9

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS, Kulikowski LD, Bertola DR, Kim CA. Honjo RS, et al. Biomed Res Int. 2015;2015:568047. doi: 10.1155/2015/568047. Epub 2015 Oct 8. Biomed Res Int. 2015. PMID: 26636100 Free PMC article. No abstract available.

10

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.

Franco JF, Soares DC, Torres LC, Leal GN, Cunha MT, Honjo RS, Bertola DR, Kim CA. Franco JF, et al. Among authors: honjo rs. Genet Mol Res. 2016 Feb 22;15(1). doi: 10.4238/gmr.15017850. Genet Mol Res. 2016. PMID: 26910003 Free article.

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