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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Pingault V, Neiva-Vaz C, de Oliveira J, Martínez-Gil N, Lasa-Aranzasti A, Campos B, Lakeman IMM, Nibbeling EAR, Stoeva R, Jayakar P, Dabir T, Elloumi HZ, Strong A, Hanein S, Picard A, Ochsenbein F, Blanc P, Amiel J. Pingault V, et al. Among authors: de oliveira j. Eur J Hum Genet. 2025 Jan;33(1):131-136. doi: 10.1038/s41431-024-01698-5. Epub 2024 Sep 27. Eur J Hum Genet. 2025. PMID: 39333427
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: de oliveira j. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
Clinical utility gene card: for incontinentia pigmenti.
Fusco F, Pescatore A, Steffann J, Bonnefont JP, De Oliveira J, Lioi MB, Ursini MV. Fusco F, et al. Among authors: de oliveira j. Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9. Eur J Hum Genet. 2019. PMID: 31289372 Free PMC article. No abstract available.
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T. Tessier A, et al. Among authors: de oliveira j. Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14. Clin Genet. 2020. PMID: 32926417
Maternal Low-Protein Diet During Nursing Leads to Glucose-Insulin Dyshomeostasis and Pancreatic-Islet Dysfunction by Disrupting Glucocorticoid Responsiveness in Male Rats.
de Freitas Mathias PC, Dantas Rodrigues AM, Lisboa PC, Miranda RA, Malta A, Ribeiro TA, Barella LF, Dias G, Lima TAL, Gomes RM, de Moura EG, de Oliveira JC. de Freitas Mathias PC, et al. Among authors: de oliveira jc. Biology (Basel). 2024 Dec 11;13(12):1036. doi: 10.3390/biology13121036. Biology (Basel). 2024. PMID: 39765703 Free PMC article.
Nanobased Natural Polymers as a Carrier System for Glyphosate: An Interesting Approach Aimed at Sustainable Agriculture.
Munhoz-Garcia GV, Takeshita V, de Oliveira JL, Dalla Vecchia B, Nalin D, Pinácio CW, Oliveira ALC, Cintra Cardoso B, Tornisielo VL, Fraceto LF. Munhoz-Garcia GV, et al. Among authors: de oliveira jl. J Agric Food Chem. 2025 Jan 15;73(2):1097-1111. doi: 10.1021/acs.jafc.4c08328. Epub 2025 Jan 2. J Agric Food Chem. 2025. PMID: 39748152
Statins as potential disease-modifying therapy of Parkinson's disease: a systematic review and meta-analysis with trial sequential analysis.
Gonçalves OR, Nascimento AB, Soares VG, Abraham D, de Almeida Monteiro G, Freitas JLR, da Cunha Monteiro Ribeiro JP, Ribeiro BL, de Oliveira JVA, Dos Santos MAR, Telles JPM, Sekeff-Sallem F, Almeida KJ. Gonçalves OR, et al. Among authors: de oliveira jva. Acta Neurol Belg. 2024 Dec 30. doi: 10.1007/s13760-024-02709-4. Online ahead of print. Acta Neurol Belg. 2024. PMID: 39738967 Review.
2,238 results