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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Clin Genet. 2005 Jan;67(1):47-52. doi: 10.1111/j.1399-0004.2005.00377.x. Clin Genet. 2005. PMID: 15617548
PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW.
Passone CBG, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP, Soster LA, Carneiro JDA, Cabral Menezes-Filho H, Damiani D. Passone CBG, et al. Among authors: koiffmann cp. Rev Paul Pediatr. 2018 Jul-Sep;36(3):345-352. doi: 10.1590/1984-0462/;2018;36;3;00003. Rev Paul Pediatr. 2018. PMID: 30365815 Free PMC article. Review.
Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ. Valente KD, et al. Among authors: koiffmann cp. Epilepsy Res. 2013 Jul;105(1-2):234-9. doi: 10.1016/j.eplepsyres.2012.12.005. Epub 2013 Jan 23. Epilepsy Res. 2013. PMID: 23352739
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
Varela MC, Kok F, Otto PA, Koiffmann CP. Varela MC, et al. Among authors: koiffmann cp. Eur J Hum Genet. 2004 Dec;12(12):987-92. doi: 10.1038/sj.ejhg.5201264. Eur J Hum Genet. 2004. PMID: 15470370
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. Among authors: koiffmann cp. 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.
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. Among authors: koiffmann cp. 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
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Jehee FS, et al. Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631899 Free PMC article.
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408
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. Among authors: koiffmann cp. 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
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.
Quaio CR, Almeida TF, Albano LM, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA. Quaio CR, et al. Among authors: koiffmann cp. Clinics (Sao Paulo). 2012 Aug;67(8):917-21. doi: 10.6061/clinics/2012(08)11. Clinics (Sao Paulo). 2012. PMID: 22948460 Free PMC article.
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