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Year Number of Results
2009 1
2015 3
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2017 1
2018 7
2019 2
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26 results

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Page 1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
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: yamamoto gl. 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
Natural history of 39 patients with Achondroplasia.
Ceroni JRM, Soares DCQ, Testai LC, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN, Bertola DR, Kim CA. Ceroni JRM, et al. Among authors: yamamoto gl. Clinics (Sao Paulo). 2018 Jul 2;73:e324. doi: 10.6061/clinics/2018/e324. Clinics (Sao Paulo). 2018. PMID: 29972438 Free PMC article.
Actin cytoskeleton dynamics in stem cells from autistic individuals.
Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertie AL, Zachi EC, Vadasz E, Passos-Bueno MR. Griesi-Oliveira K, et al. Among authors: yamamoto gl. Sci Rep. 2018 Jul 24;8(1):11138. doi: 10.1038/s41598-018-29309-6. Sci Rep. 2018. PMID: 30042445 Free PMC article.
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV. Tolezano GC, et al. Among authors: yamamoto gl. J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11. J Autism Dev Disord. 2024. PMID: 36502452 Review.
Nutritional aspects of Noonan syndrome and Noonan-related disorders.
da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D. da Silva FM, et al. Among authors: yamamoto gl. Am J Med Genet A. 2016 Jun;170(6):1525-31. doi: 10.1002/ajmg.a.37639. Epub 2016 Apr 1. Am J Med Genet A. 2016. PMID: 27038324
Post-mortem cytogenomic investigations in patients with congenital malformations.
Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Dias AT, et al. Among authors: yamamoto gl. Exp Mol Pathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003. Epub 2016 Jul 20. Exp Mol Pathol. 2016. PMID: 27450648
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA, Pires LVL, Yamamoto GL, Magliocco Ceroni JR, Honjo RS, de Novaes França Bisneto E, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. da Rocha LA, et al. Among authors: yamamoto gl. Clin Genet. 2021 Nov;100(5):615-623. doi: 10.1111/cge.14041. Epub 2021 Aug 9. Clin Genet. 2021. PMID: 34341987
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Caires-Júnior LC, Goulart E, Melo US, Araujo BHS, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, daSilva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JRM, Arrais NMR, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Caires-Júnior LC, et al. Among authors: yamamoto gl. Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9. Nat Commun. 2018. PMID: 29396410 Free PMC article.
26 results