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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: refojo d. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
Involvement of bone morphogenetic protein 4 (BMP-4) in pituitary prolactinoma pathogenesis through a Smad/estrogen receptor crosstalk.
Paez-Pereda M, Giacomini D, Refojo D, Nagashima AC, Hopfner U, Grubler Y, Chervin A, Goldberg V, Goya R, Hentges ST, Low MJ, Holsboer F, Stalla GK, Arzt E. Paez-Pereda M, et al. Among authors: refojo d. Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1034-9. doi: 10.1073/pnas.0237312100. Epub 2003 Jan 27. Proc Natl Acad Sci U S A. 2003. PMID: 12552124 Free PMC article.
54 results