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Page 1
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: honjo r. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR. Ceroni JR, et al. Among authors: honjo rs. Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19. Genet Mol Biol. 2018. PMID: 29473937 Free PMC article.
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Bertola DR, et al. Among authors: honjo rs. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):896-911. doi: 10.1002/ajmg.c.31851. Epub 2020 Oct 31. Am J Med Genet C Semin Med Genet. 2020. PMID: 33128510
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 Free article. Clinical Trial.
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Malaquias AC, Noronha RM, Souza TTO, Homma TK, Funari MFA, Yamamoto GL, Silva FV, Moraes MB, Honjo RS, Kim CA, Nesi-França S, Carvalho JAR, Quedas EPS, Bertola DR, Jorge AAL. Malaquias AC, et al. Among authors: honjo rs. Horm Res Paediatr. 2019;91(4):252-261. doi: 10.1159/000500264. Epub 2019 May 27. Horm Res Paediatr. 2019. PMID: 31132774 Clinical Trial.
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Aoi H, et al. Among authors: honjo rs. J Hum Genet. 2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z. Epub 2019 Jul 23. J Hum Genet. 2019. PMID: 31337854
84 results