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Page 1
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA. Praxedes LA, et al. Among authors: costa ss. Mol Syndromol. 2010 Sep;1(3):133-135. doi: 10.1159/000319976. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031083 Free PMC article.
FRAXA premutation associated with premature ovarian failure.
Vianna-Morgante AM, Costa SS, Pares AS, Verreschi IT. Vianna-Morgante AM, et al. Among authors: costa ss. Am J Med Genet. 1996 Aug 9;64(2):373-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<373::AID-AJMG28>3.0.CO;2-B. Am J Med Genet. 1996. PMID: 8844084
Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.
Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI. Christofolini DM, et al. Among authors: costa ss. J Intellect Disabil. 2009 Sep;13(3):239-48. doi: 10.1177/1744629509348429. J Intellect Disabil. 2009. PMID: 19786505
Chromosome imbalances in syndromic hearing loss.
Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: costa ss. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740
287 results