Ana C V Krepischi
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Explore the profile of Ana C V Krepischi including associated specialties, affiliations and a list of published articles.
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34
Citations
350
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Recent Articles
1.
Mazzonetto P, Villela D, Krepischi A, Pierry P, Bonaldi A, Almeida L, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63802.
PMID: 38924610
Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing-based approach...
2.
Mazzonetto P, Villela D, da Costa S, Krepischi A, Milanezi F, Migliavacca M, et al.
Ann Hum Genet
. 2023 Oct;
88(2):113-125.
PMID: 37807935
Introduction: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV...
3.
Andrade P, Santos J, Teixeira A, Sogari V, Almeida M, Callegari F, et al.
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510264
Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene () pathogenic variants. We...
4.
Chaves L, Carvalho L, Tolezano G, Pires S, Costa S, de Scliar M, et al.
Mol Neurobiol
. 2023 Mar;
60(7):3758-3769.
PMID: 36943625
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme skewing of X-chromosome inactivation (XCI) can be associated...
5.
Menezes Andrade N, de Assis Funari M, Malaquias A, Collett-Solberg P, Gomes N, Scalco R, et al.
Endocr Connect
. 2022 Nov;
11(12).
PMID: 36373817
Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine...
6.
Krepischi A, Villela D, da Costa S, Mazzonetto P, Schauren J, Migliavacca M, et al.
Sci Rep
. 2022 Sep;
12(1):15184.
PMID: 36071085
Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability,...
7.
Montenegro M, Camilotti D, Quaio C, Gasparini Y, Zanardo E, Rangel-Santos A, et al.
J Pediatr
. 2022 Sep;
252:56-60.e2.
PMID: 36067875
Objective: To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum...
8.
Grochowski C, Krepischi A, Eisfeldt J, Du H, Bertola D, Oliveira D, et al.
Front Genet
. 2021 Sep;
12:708348.
PMID: 34512724
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old...
9.
Villela D, Mazzonetto P, Migliavacca M, Perrone E, Guida G, Milanezi M, et al.
Am J Med Genet A
. 2021 May;
185(8):2335-2344.
PMID: 33988290
Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability,...
10.
Quintero Escobar M, Carneiro Costa T, Martins L, Costa S, vanHelvoort Lengert A, Boldrini E, et al.
Front Oncol
. 2020 Nov;
10:506959.
PMID: 33178572
Pediatric osteosarcoma outcomes have improved over the last decades; however, patients who do not achieve a full resection of the tumor, even after aggressive chemotherapy, have the worst prognosis. At...