Cavalcanti DP - Search Results

1

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W. Llerena J Jr, et al. Among authors: cavalcanti dp. BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w. BMC Pediatr. 2022. PMID: 35986266 Free PMC article.

2

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. Among authors: cavalcanti dp. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720

3

Molecular analysis of holoprosencephaly in South America.

Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM. Savastano CP, et al. Among authors: cavalcanti dp. Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62. doi: 10.1590/s1415-47572014000200011. Genet Mol Biol. 2014. PMID: 24764759 Free PMC article.

4

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. Among authors: cavalcanti dp. 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.

5

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP, Sanseverino MT, Magalhães JA, Leite JC, Félix TM, Todeschini LA, Cavalcanti DP, Schüler-Faccini L. Mattos EP, et al. Among authors: cavalcanti dp. Genet Mol Biol. 2015 Mar;38(1):14-20. doi: 10.1590/S1415-475738120140147. Epub 2014 Mar 17. Genet Mol Biol. 2015. PMID: 25983619 Free PMC article.

6

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP. Moreno CA, et al. Among authors: cavalcanti dp. Am J Med Genet A. 2016 Nov;170(11):2965-2974. doi: 10.1002/ajmg.a.37857. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481187 Free PMC article. Review.

7

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, de Medeiros PF, Minillo RM, Melo DG, Kim CA, Doriqui MJ, Felix TM, Fock RA, Cavalcanti DP. Araujo TF, et al. Among authors: cavalcanti dp. Eur J Med Res. 2016 Aug 24;21(1):33. doi: 10.1186/s40001-016-0228-7. Eur J Med Res. 2016. PMID: 27558267 Free PMC article.

8

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Gomes MES, Kanazawa TY, Riba FR, Pereira NG, Zuma MCC, Rabelo NC, Sanseverino MT, Horovitz DDG, Llerena JC Jr, Cavalcanti DP, Gonzalez S. Gomes MES, et al. Among authors: cavalcanti dp. Mol Syndromol. 2018 Feb;9(2):92-99. doi: 10.1159/000486697. Epub 2018 Feb 2. Mol Syndromol. 2018. PMID: 29593476 Free PMC article.

9

Identification of genomic imbalances in oral clefts.

Lustosa-Mendes E, Santos APD, Vieira TP, Ribeiro EM, Rezende AA, Fett-Conte AC, Cavalcanti DP, Félix TM, Monlleó IL, Gil-da-Silva-Lopes VL. Lustosa-Mendes E, et al. Among authors: cavalcanti dp. J Pediatr (Rio J). 2021 May-Jun;97(3):321-328. doi: 10.1016/j.jped.2020.06.005. Epub 2020 Jul 21. J Pediatr (Rio J). 2021. PMID: 32707036 Free PMC article.

10

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. 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.

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