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Page 1
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG, Cardozo LFM, Schwind MR, Carvalho D, Almeida JPG, Cappellano AM, Alegria TGP, Nanhoe S, Nellist M, Passos-Bueno MR, Chiavegatto S, Silva NS, Rosemberg S, Pereira APA, Antoniuk SA, Haddad LA. Dufner-Almeida LG, et al. Among authors: passos bueno mr. Genes (Basel). 2024 Nov 3;15(11):1432. doi: 10.3390/genes15111432. Genes (Basel). 2024. PMID: 39596632 Free PMC article.
Generation and characterization of cortical organoids from iPSC-derived dental pulp stem cells using traditional and innovative approaches.
Teles E Silva AL, Yokota-Moreno BY, Branquinho MS, Salles GR, de Souza TC, de Carvalho RA, Batista G, Varella Branco E, Griesi-Oliveira K, Passos Bueno MR, Porcionatto MA, Herai RH, Gamarra LF, Sertié AL. Teles E Silva AL, et al. Among authors: passos bueno mr. Neurochem Int. 2024 Nov;180:105854. doi: 10.1016/j.neuint.2024.105854. Epub 2024 Sep 4. Neurochem Int. 2024. PMID: 39241808
Lead contamination in human milk affects infants' language trajectory: results from a prospective cohort study.
Naspolini NF, Vanzele PAR, Tótolo P, Schüroff PA, Fatori D, Vicentini Neto SA, Barata-Silva C, Dos Santos LMG, Fujita A, Passos-Bueno MR, Beltrão-Braga PCB, Campos AC, Carvalho ACPLF, Polanczyk GV, Moreira JC, Taddei CR. Naspolini NF, et al. Among authors: passos bueno mr. Front Public Health. 2024 Aug 13;12:1450570. doi: 10.3389/fpubh.2024.1450570. eCollection 2024. Front Public Health. 2024. PMID: 39193201 Free PMC article.
Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.
Silva Barcelos EC, Naslavsky MS, Fernandes IS, Scliar MO, Yamamoto GL, Wang JYT, Bride L, de Sousa VP, Pimassoni LHS, Sportoletti P, de Paula F, von Zeidler SV, Duarte YAO, Passos-Bueno MR, Zatz M, Errera FIV. Silva Barcelos EC, et al. Among authors: passos bueno mr. Sci Rep. 2024 Jul 24;14(1):17096. doi: 10.1038/s41598-024-65771-1. Sci Rep. 2024. PMID: 39048597 Free PMC article.
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD, Paula MG, Bürger MC, de Oliveira AG, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola D, Yamamoto GL, Passos-Bueno MR, Campos GDS, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, de Pina-Neto JM, Scapulatempo-Neto C, Milanezi F, Rosenberg C. Mazzonetto PC, et al. Among authors: passos bueno mr. Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25. Am J Med Genet A. 2024. PMID: 38924610
An evolutionary perspective on complex neuropsychiatric disease.
McClellan JM, Zoghbi AW, Buxbaum JD, Cappi C, Crowley JJ, Flint J, Grice DE, Gulsuner S, Iyegbe C, Jain S, Kuo PH, Lattig MC, Passos-Bueno MR, Purushottam M, Stein DJ, Sunshine AB, Susser ES, Walsh CA, Wootton O, King MC. McClellan JM, et al. Among authors: passos bueno mr. Neuron. 2024 Jan 3;112(1):7-24. doi: 10.1016/j.neuron.2023.10.037. Epub 2023 Nov 27. Neuron. 2024. PMID: 38016473 Review.
Optimal population-specific HLA imputation with dimension reduction.
Douillard V, Dos Santos Brito Silva N, Bourguiba-Hachemi S, Naslavsky MS, Scliar MO, Duarte YAO, Zatz M, Passos-Bueno MR, Limou S, Gourraud PA, Launay É, Castelli EC, Vince N; SNP-HLA Reference Consortium (SHLARC). Douillard V, et al. Among authors: passos bueno mr. HLA. 2024 Jan;103(1):e15282. doi: 10.1111/tan.15282. Epub 2023 Nov 11. HLA. 2024. PMID: 37950640
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: passos bueno mr. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Free PMC article. Review.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Nair D, Diaz-Rosado A, Varella-Branco E, Ramos I, Black A, Angireddy R, Park J, Murali S, Yoon A, Ciesielski B, O'Brien WT, Passos-Bueno MR, Bhoj E. Nair D, et al. Among authors: passos bueno mr. Am J Med Genet A. 2023 Oct;191(10):2508-2517. doi: 10.1002/ajmg.a.63320. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353954 Free PMC article.
315 results