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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: pinto e vairo f. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. Oliver GR, et al. Among authors: pinto e vairo f. Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10. Mol Genet Genomic Med. 2019. PMID: 30632316 Free PMC article.
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Mangaonkar AA, et al. Among authors: pinto e vairo f. Mayo Clin Proc. 2019 Sep;94(9):1753-1768. doi: 10.1016/j.mayocp.2019.04.007. Epub 2019 Jun 27. Mayo Clin Proc. 2019. PMID: 31256854 Free PMC article.
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Saliba AN, et al. Among authors: pinto e vairo f. Br J Haematol. 2020 Sep;190(5):e316-e320. doi: 10.1111/bjh.16897. Epub 2020 Jun 22. Br J Haematol. 2020. PMID: 32567678 Free article. No abstract available.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Schultz-Rogers L, et al. Among authors: pinto e vairo f. Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12. Mol Genet Genomic Med. 2020. PMID: 32918542 Free PMC article.
61 results