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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print.
Mol Neurobiol. 2024.
PMID: 38180615
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Fellows BJ, Tolezano GC, Pires SF, Ruegg MSG, Knapp KM, Krepischi ACV, Bicknell LS.
Fellows BJ, et al. Among authors: tolezano gc.
Am J Med Genet A. 2024 Mar;194(3):e63468. doi: 10.1002/ajmg.a.63468. Epub 2023 Nov 8.
Am J Med Genet A. 2024.
PMID: 37937525
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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: tolezano gc.
Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21.
Mol Neurobiol. 2023.
PMID: 36943625
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Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.
Bastos GC, Tolezano GC, Krepischi ACV.
Bastos GC, et al. Among authors: tolezano gc.
Genes (Basel). 2022 Dec 4;13(12):2285. doi: 10.3390/genes13122285.
Genes (Basel). 2022.
PMID: 36553552
Free PMC article.
Review.
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV.
Tolezano GC, et al.
J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11.
J Autism Dev Disord. 2024.
PMID: 36502452
Review.
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Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.
Tolezano GC, da Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV.
Tolezano GC, et al.
Int J Mol Cell Med. 2020 Fall;9(4):296-306. doi: 10.22088/IJMCM.BUMS.9.4.296. Epub 2021 Jan 27.
Int J Mol Cell Med. 2020.
PMID: 33688487
Free PMC article.
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Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV.
Pires SF, et al. Among authors: tolezano gc.
Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3.
Pediatr Blood Cancer. 2020.
PMID: 32748512
No abstract available.
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