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Page 1
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.
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022. Am J Hum Genet. 2014. PMID: 24387991 Free PMC article.
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Bertola DR, et al. Among authors: yamamoto gl. Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25124994
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
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
69 results