D'Angelo CS - Search Results

1

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. 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

2

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. D'Angelo CS, et al. Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. doi: 10.1016/j.ejmg.2006.02.001. Epub 2006 Mar 10. Eur J Med Genet. 2006. PMID: 16564757

3

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior.

D'Angelo CS, Jehee FS, Koiffmann CP. D'Angelo CS, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1928-32. doi: 10.1002/ajmg.a.31787. Am J Med Genet A. 2007. PMID: 17618498 No abstract available.

4

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.

D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Koiffmann CP. D'Angelo CS, et al. Am J Med Genet A. 2010 Jan;152A(1):102-10. doi: 10.1002/ajmg.a.33160. Am J Med Genet A. 2010. PMID: 20034100

5

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

D'Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP. D'Angelo CS, et al. Hum Genet. 2009 Jun;125(5-6):551-63. doi: 10.1007/s00439-009-0650-9. Epub 2009 Mar 7. Hum Genet. 2009. PMID: 19271239

6

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.

D'Angelo CS, Varela MC, de Castro CIe, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP. D'Angelo CS, et al. Mol Cytogenet. 2014 Oct 31;7(1):75. doi: 10.1186/s13039-014-0075-6. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411582 Free PMC article.

7

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP. D'Angelo CS, et al. Am J Med Genet A. 2013 Mar;161A(3):479-86. doi: 10.1002/ajmg.a.35761. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401328

8

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

D'Angelo CS, Moller Dos Santos MF, Alonso LG, Koiffmann CP. D'Angelo CS, et al. Mol Syndromol. 2015 Jul;6(2):63-70. doi: 10.1159/000371600. Epub 2015 Jan 28. Mol Syndromol. 2015. PMID: 26279650 Free PMC article.

9

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

D'Angelo CS, Varela MC, de Castro CIE, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. D'Angelo CS, et al. Mol Cytogenet. 2018 Feb 5;11:14. doi: 10.1186/s13039-018-0363-7. eCollection 2018. Mol Cytogenet. 2018. PMID: 29441128 Free PMC article.

10

Genetic investigation of syndromic forms of obesity.

Carvalho LML, D'Angelo CS, Villela D, da Costa SS, de Lima Jorge AA, da Silva IT, de Oliveira Scliar M, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Among authors: d angelo cs. Int J Obes (Lond). 2022 Sep;46(9):1582-1586. doi: 10.1038/s41366-022-01149-5. Epub 2022 May 21. Int J Obes (Lond). 2022. PMID: 35597848

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