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Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Chaves LD, et al. Among authors: costa ss. Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943625
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C. Carneiro TN, et al. Among authors: costa ss. Appl Clin Genet. 2018 Aug 22;11:93-98. doi: 10.2147/TACG.S165799. eCollection 2018. Appl Clin Genet. 2018. PMID: 30174453 Free PMC article.
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
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Homma TK, et al. Among authors: costa ss. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Free article. Clinical Trial.
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.
283 results