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Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, Baussart B, Chittiboina P, Toro C, Gahl WA, Eugster EA, Naves LA, Jaffrain-Rea ML, de Herder WW, Neggers SJ, Petrossians P, Beckers A, Lania AG, Mains RE, Eipper BA, Stratakis CA. Trivellin G, et al. Among authors: faucz fr. medRxiv [Preprint]. 2023 Jan 20:2023.01.20.23284646. doi: 10.1101/2023.01.20.23284646. medRxiv. 2023. PMID: 36711613 Free PMC article. Updated. Preprint.
Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries.
Azevedo LF, Pecharki GD, Brancher JA, Cordeiro CA Jr, Medeiros KG, Antunes AA, Arruda ES, Werneck RI, de Azevedo LR, Mazur RF, Moysés SJ, Moysés ST, Faucz FR, Trevilatto PC. Azevedo LF, et al. Among authors: faucz fr. J Appl Oral Sci. 2010 Mar-Apr;18(2):166-70. doi: 10.1590/s1678-77572010000200011. J Appl Oral Sci. 2010. PMID: 20485928 Free PMC article.
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.
Souza J, Faucz F, Sotomaior V, Filho AB, Rosenfeld J, Raskin S. Souza J, et al. Genet Mol Biol. 2011 Oct;34(4):557-61. doi: 10.1590/S1415-47572011005000044. Epub 2011 Oct 1. Genet Mol Biol. 2011. PMID: 22215957 Free PMC article.
149 results