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In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.
Chami A, de Souza Zózimo TR, Alves TM, Matosinho CGR, Santos C, Simões MM, Cabral WLR, de Paula Ricardo BF, da Silva Filho AL, Carvalho MRS, da Conceição Braga L. Chami A, et al. Among authors: carvalho mrs. Fam Cancer. 2023 Oct;22(4):481-486. doi: 10.1007/s10689-023-00335-2. Epub 2023 Jun 15. Fam Cancer. 2023. PMID: 37316640
Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr.
Matosinho CGR, Rosse IC, Fonseca PAS, de Oliveira FS, Dos Santos FG, Araújo FMG, de Matos Salim AC, Lopes BC, Arbex WA, Machado MA, Peixoto MGCD, da Silva Verneque R, Martins MF, da Silva MVGB, Oliveira G, Pires DEV, Carvalho MRS. Matosinho CGR, et al. Among authors: carvalho mrs. Trop Anim Health Prod. 2021 Oct 27;53(6):524. doi: 10.1007/s11250-021-02970-2. Trop Anim Health Prod. 2021. PMID: 34705124
Genetic variants of VWF gene in type 2 von Willebrand disease.
Freitas SDS, Rezende SM, de Oliveira LC, Prezotti ANL, Renni MS, Corsini CA, Amorim MVA, Matosinho CGR, Carvalho MRS, Chaves DG. Freitas SDS, et al. Among authors: carvalho mrs. Haemophilia. 2019 Mar;25(2):e78-e85. doi: 10.1111/hae.13714. Epub 2019 Feb 28. Haemophilia. 2019. PMID: 30817071
Do boys with MAOA_LPR*2R allele present cognitive and learning impairments?
Silva EO, de Carvalho AHB, Paiva GM, Jorge CA, Koltermann G, de Salles JF, Haase VG, Carvalho MRS. Silva EO, et al. Among authors: carvalho mrs. Dement Neuropsychol. 2022 Apr-Jun;16(2):162-170. doi: 10.1590/1980-5764-DN-2021-0071. Epub 2022 May 13. Dement Neuropsychol. 2022. PMID: 35720651 Free PMC article.
Are 22q11.2 distal deletions associated with math difficulties?
Carvalho MR, Vianna G, Oliveira Lde F, Costa AJ, Pinheiro-Chagas P, Sturzenecker R, Zen PR, Rosa RF, de Aguiar MJ, Haase VG. Carvalho MR, et al. Am J Med Genet A. 2014 Sep;164A(9):2256-62. doi: 10.1002/ajmg.a.36649. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989330
46 results