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Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
J Pediatr Genet. 2021 Mar;10(1):63-69. doi: 10.1055/s-0040-1705095. Epub 2020 Feb 28.
J Pediatr Genet. 2021.
PMID: 33552642
Free PMC article.
Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.
Glaeser AB, Diniz BL, Deconte D, Santos AS, Rosa RFM, Zen PRG.
Glaeser AB, et al. Among authors: deconte d.
J Pediatr Genet. 2020 Sep;9(3):149-157. doi: 10.1055/s-0040-1712118. Epub 2020 May 27.
J Pediatr Genet. 2020.
PMID: 32714614
Free PMC article.
Review.
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Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
Deconte D, Kreusch TC, Salvaro BP, Perin WF, Ferreira MAT, Kopacek C, da Rosa EB, Heringer JI, Ligabue-Braun R, Zen PRG, Rosa RFM, Fiegenbaum M.
Deconte D, et al.
J Pediatr Genet. 2020 Dec;9(4):263-269. doi: 10.1055/s-0039-3401831. Epub 2020 Jan 6.
J Pediatr Genet. 2020.
PMID: 32765931
Free PMC article.
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Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG.
Glaeser AB, et al. Among authors: deconte d.
Am J Med Genet A. 2020 Nov;182(11):2624-2631. doi: 10.1002/ajmg.a.61841. Epub 2020 Sep 7.
Am J Med Genet A. 2020.
PMID: 32893956
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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.
Diniz BL, Glaeser AB, Deconte D, Guaraná BB, Rosa RFM, Zen PRG.
Diniz BL, et al. Among authors: deconte d.
J Pediatr Genet. 2021 Mar;10(1):45-48. doi: 10.1055/s-0040-1701640. Epub 2020 Feb 12.
J Pediatr Genet. 2021.
PMID: 33552638
Free PMC article.
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Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.
Diniz BL, Deconte D, Gadelha KA, Glaeser AB, Guaraná BB, de Moura AÁ, Rosa RFM, Zen PRG.
Diniz BL, et al. Among authors: deconte d.
J Pediatr Genet. 2023 Feb 17;12(2):113-122. doi: 10.1055/s-0043-1763258. eCollection 2023 Jun.
J Pediatr Genet. 2023.
PMID: 37090828
Free PMC article.
Review.
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Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.
Carlotto BS, Deconte D, Diniz BL, Silva PRD, Zen PRG, Silva AAD.
Carlotto BS, et al. Among authors: deconte d.
Rev Paul Pediatr. 2023 Jul 10;42:e2022125. doi: 10.1590/1984-0462/2023/41/2022125. eCollection 2023.
Rev Paul Pediatr. 2023.
PMID: 37436242
Free PMC article.
Review.
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