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Page 1
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
Soares JS, da Silva Lago RMR, Toralles MBP, Mota LR, Alves ES, de Carvalho AFL. Soares JS, et al. Among authors: mota lr. Arch Endocrinol Metab. 2021 Nov 24;65(6):739-746. doi: 10.20945/2359-3997000000403. Epub 2021 Nov 11. Arch Endocrinol Metab. 2021. PMID: 34762780 Free PMC article.
Unusual presentation of cystic fibrosis as diffuse dermatitis.
Bonfim BS, Mota LR, Almeida CG, de Brito Aguiar AP, Ferreira de Lima RLL, de Mattos ÂP, Souza EL. Bonfim BS, et al. Among authors: mota lr. Indian J Dermatol Venereol Leprol. 2018 Jul-Aug;84(4):461-463. doi: 10.4103/ijdvl.IJDVL_616_17. Indian J Dermatol Venereol Leprol. 2018. PMID: 29873311 Free article. No abstract available.
Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country.
da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team. da Silva Filho LVRF, et al. J Cyst Fibros. 2021 May;20(3):473-484. doi: 10.1016/j.jcf.2020.08.007. Epub 2020 Aug 18. J Cyst Fibros. 2021. PMID: 32819855 Free article.
The significant impact of meconium ileus on clinical outcomes among Brazilian individuals with cystic fibrosis-a retrospective analysis of a patient registry.
da Silva-Filho LVRF, Belchior G, Paes AT, Soriano Freire NC, Steinhaus C, Epifanio M; Brazilian CF Registry Contributors Team. da Silva-Filho LVRF, et al. Lancet Reg Health Am. 2025 Apr 28;46:101099. doi: 10.1016/j.lana.2025.101099. eCollection 2025 Jun. Lancet Reg Health Am. 2025. PMID: 40959767 Free PMC article.