Honjo RS - Search Results

1

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: honjo rs. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168

2

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

3

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

4

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.

5

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.

6

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.

7

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.

8

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.

9

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.

10

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

Pegler JR, Soares DC, Quaio CR, Fernandes N, Oliveira LA, Honjo RS, Bertola DR, Kim CA. Pegler JR, et al. Among authors: honjo rs. Rev Assoc Med Bras (1992). 2016 May-Jun;62(3):202-6. doi: 10.1590/1806-9282.62.03.202. Rev Assoc Med Bras (1992). 2016. PMID: 27310541 Free article.

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