Silveira KC - Search Results

1

Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.

Silveira KC, Kanazawa TY, Silveira C, Lacarrubba-Flores MDJ, Carvalho BS, Cavalcanti DP. Silveira KC, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):396-408. doi: 10.1002/ajmg.c.31937. Epub 2021 Sep 16. Am J Med Genet C Semin Med Genet. 2021. PMID: 34529350

2

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AA, Cavalcanti DP. Silveira KC, et al. Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735649 No abstract available.

3

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

Silveira KC, Moreno CA, Cavalcanti DP. Silveira KC, et al. Am J Med Genet A. 2017 May;173(5):1186-1189. doi: 10.1002/ajmg.a.38157. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28370949

4

Skeletal dysplasias in Latin America.

Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, Del Pino M, Moresco A, Caino S, Ramos Mejía R, García CJ, Lay-Son G, Ferreira CR. Cavalcanti DP, et al. Among authors: silveira kc. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):986-995. doi: 10.1002/ajmg.c.31861. Epub 2020 Nov 21. Am J Med Genet C Semin Med Genet. 2020. PMID: 33219737 Free PMC article. Review.

5

Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.

Moreira LA, Carvalho DR, Santos SCL, Silva CCE, Ferreira BSA, Cunha BMD, Silveira KC, Lacarrubba-Flores MDJ, Cavalcanti DP, Mota LMHD. Moreira LA, et al. Among authors: silveira kc. Mod Rheumatol. 2024 Jul 6;34(4):705-710. doi: 10.1093/mr/road070. Mod Rheumatol. 2024. PMID: 37489771 Review.

6

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.

Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P. Silveira KC, et al. Hum Genet. 2023 Nov;142(11):1571-1586. doi: 10.1007/s00439-023-02598-2. Epub 2023 Sep 27. Hum Genet. 2023. PMID: 37755482 Free PMC article.

7

Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.

Silveira KC, Ambrose A, Athey T, Taylor S, Mercimek-Andrews S, Kannu P. Silveira KC, et al. Clin Genet. 2024 Dec;106(6):764-768. doi: 10.1111/cge.14610. Epub 2024 Aug 30. Clin Genet. 2024. PMID: 39212003

8

Modified R5-R8 Thoracic Sympathectomy for Severe Compensatory Hyperhidrosis.

Vasconcelos CFM, Aguiar WS, Cordeiro GG, Silveira KC, Moreira RS, Lisboa DL, Ferraz ÁAB. Vasconcelos CFM, et al. Among authors: silveira kc. Ann Thorac Surg. 2021 Jan;111(1):e57-e59. doi: 10.1016/j.athoracsur.2020.05.099. Epub 2020 Jul 18. Ann Thorac Surg. 2021. PMID: 32687829

9

PREVALENCE AND FACTORS ASSOCIATED WITH ANEMIA IN CHILDREN ENROLLED IN DAYCARE CENTERS: A HIERARCHICAL ANALYSIS.

Novaes TG, Gomes AT, Silveira KCD, Magalhães EIDS, Souza CL, Netto MP, Lamounier JA, Rocha DDS. Novaes TG, et al. Among authors: silveira kcd. Rev Paul Pediatr. 2017 Jul-Sep;35(3):281-288. doi: 10.1590/1984-0462/;2017;35;3;00008. Epub 2017 Jul 31. Rev Paul Pediatr. 2017. PMID: 28977293 Free PMC article.

10

The effect of vitamin A supplementation with 400 000 IU vs 200 000 IU on retinol concentrations in the breast milk: A randomized clinical trial.

Tomiya MT, de Arruda IK, da Silva Diniz A, Santana RA, da Silveira KC, Andreto LM. Tomiya MT, et al. Among authors: da silveira kc. Clin Nutr. 2017 Feb;36(1):100-106. doi: 10.1016/j.clnu.2015.11.018. Epub 2015 Dec 17. Clin Nutr. 2017. PMID: 26725194 Clinical Trial.

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