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Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes.
Martins Trevisan C, Naslavsky MS, Monfardini F, Wang J, Zatz M, Peluso C, Pellegrino R, Mafra F, Hakonarson H, Ferreira FM, Nakaya H, Christofolini DM, Montagna E, Crandall KA, Barbosa CP, Bianco B. Martins Trevisan C, et al. Among authors: pellegrino r. DNA Cell Biol. 2020 Jun;39(6):1012-1022. doi: 10.1089/dna.2019.5165. Epub 2020 Apr 29. DNA Cell Biol. 2020. PMID: 32352843
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.
Christofolini DM, Meloni VA, Ramos MA, Oliveira MM, de Mello CB, Pellegrino R, Takeno SS, Melaragno MI. Christofolini DM, et al. Among authors: pellegrino r. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):823-8. doi: 10.1002/ajmg.b.32089. Epub 2012 Aug 22. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22911893
Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM. Araujo AN, et al. Among authors: pellegrino r. J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6. J Clin Endocrinol Metab. 2014. PMID: 24601688
A current snapshot of common genomic variants contribution in psychiatric disorders.
Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H. Santoro ML, et al. Among authors: pellegrino r. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 3. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27486013 Review.
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.
Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA. Rasmussen-Torvik LJ, et al. Among authors: pellegrino r. J Mol Diagn. 2017 Jul;19(4):561-566. doi: 10.1016/j.jmoldx.2017.04.002. Epub 2017 May 11. J Mol Diagn. 2017. PMID: 28502727 Free PMC article.
479 results