Cavalcanti DP - Search Results

1

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Among authors: cavalcanti dp. Cleft Palate Craniofac J. 2006 Mar;43(2):148-51. doi: 10.1597/04-206.1. Cleft Palate Craniofac J. 2006. PMID: 16526918

2

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Among authors: cavalcanti dp. Clin Genet. 2005 Jun;67(6):503-10. doi: 10.1111/j.1399-0004.2005.00438.x. Clin Genet. 2005. PMID: 15857417

3

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

4

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Among authors: cavalcanti dp. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

5

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.

6

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.

7

[Incidence of congenital hydrocephalus and the role of the prenatal diagnosis].

Cavalcanti DP, Salomão MA. Cavalcanti DP, et al. J Pediatr (Rio J). 2003 Mar-Apr;79(2):135-40. J Pediatr (Rio J). 2003. PMID: 14502334 Portuguese.

8

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.

9

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.

10

Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient.

Farah SB, Ramos CF, de Mello MP, Sartorato EL, Horelli-Kuitunen N, Lopes VL, Cavalcanti DP, Hackel C. Farah SB, et al. Among authors: cavalcanti dp. Am J Med Genet. 1994 Feb 15;49(4):388-92. doi: 10.1002/ajmg.1320490407. Am J Med Genet. 1994. PMID: 8160730

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