A C V Krepischi
Overview
Explore the profile of A C V Krepischi including associated specialties, affiliations and a list of published articles.
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6
Citations
46
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0
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Recent Articles
1.
Carvalho L, da Costa S, Campagnari F, Kaufman A, Bertola D, da Silva I, et al.
J Intellect Disabil Res
. 2021 Oct;
65(12):1049-1057.
PMID: 34713510
Background: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. Methods: We investigated two cases (one familial and...
2.
Krepischi A, Maschietto M, Ferreira E, Silva A, Costa S, da Cunha I, et al.
Mol Cytogenet
. 2016 Feb;
9:20.
PMID: 26913079
Background: Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work...
3.
Araujo E, Vasques L, Stabellini R, Krepischi A, Pereira L
Braz J Med Biol Res
. 2014 Nov;
47(12):1029-35.
PMID: 25387668
DNA methylation is essential in X chromosome inactivation and genomic imprinting, maintaining repression of XIST in the active X chromosome and monoallelic repression of imprinted genes. Disruption of the DNA...
4.
Dornelles-Wawruk H, Pic-Taylor A, Rosenberg C, Krepischi A, Safatle H, Ferrari I, et al.
Mol Syndromol
. 2013 Oct;
4(6):297-301.
PMID: 24167466
We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The...
5.
Mazzeu J, Vianna-Morgante A, Krepischi A, Oudakker A, Rosenberg C, Szuhai K, et al.
Clin Genet
. 2010 Jan;
77(4):404-7.
PMID: 20095987
No abstract available.
6.
Catelani A, Krepischi A, Kim C, Kok F, Otto P, Auricchio M, et al.
Clin Genet
. 2009 Oct;
76(5):458-64.
PMID: 19807740
The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment...