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Year Number of Results
2007 1
2008 1
2009 1
2012 1
2014 5
2015 3
2016 2
2017 3
2018 13
2019 6
2020 7
2021 5
2022 6
2023 3
2024 3

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55 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. 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
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: yamamoto gl. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Among authors: yamamoto gl. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Development of a comprehensive noninvasive prenatal test.
Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck I, Passos-Bueno MR. Malcher C, et al. Among authors: yamamoto gl. Genet Mol Biol. 2018 Jul/Sept.;41(3):545-554. doi: 10.1590/1678-4685-GMB-2017-0177. Epub 2018 Jul 16. Genet Mol Biol. 2018. PMID: 30043834 Free PMC article.
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. Clinics (Sao Paulo). 2018 Jul 2;73:e324. doi: 10.6061/clinics/2018/e324. Clinics (Sao Paulo). 2018. PMID: 29972438 Free PMC article.
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Dos Santos Brito Silva N, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M. Naslavsky MS, et al. Among authors: yamamoto gl. Nat Commun. 2022 Mar 4;13(1):1004. doi: 10.1038/s41467-022-28648-3. Nat Commun. 2022. PMID: 35246524 Free PMC article.
Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil.
Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Dos Santos Brito Silva N, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M. Naslavsky MS, et al. Among authors: yamamoto gl. Nat Commun. 2022 Mar 30;13(1):1831. doi: 10.1038/s41467-022-29575-z. Nat Commun. 2022. PMID: 35354829 Free PMC article. No abstract available.
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. 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. 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.
55 results