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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: rosenberg c. 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: rosenberg c. 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.
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Vianna EQ, Piergiorge RM, Gonçalves AP, Dos Santos JM, Calassara V, Rosenberg C, Krepischi ACV, Boy da Silva RT, Dos Santos SR, Ribeiro MG, Machado FB, Medina-Acosta E, Pimentel MMG, Santos-Rebouças CB. Vianna EQ, et al. Among authors: rosenberg c. Mol Neurobiol. 2020 Sep;57(9):3671-3684. doi: 10.1007/s12035-020-01981-8. Epub 2020 Jun 20. Mol Neurobiol. 2020. PMID: 32564284
SCAF4-related syndromic intellectual disability.
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Among authors: rosenberg c. Am J Med Genet A. 2023 Feb;191(2):570-574. doi: 10.1002/ajmg.a.63032. Epub 2022 Nov 5. Am J Med Genet A. 2023. PMID: 36333968
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: rosenberg c. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Clinical Trial.
841 results