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2012 1
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Page 1
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: chatfield kc. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Among authors: chatfield kc. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Among authors: chatfield kc. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357
MEK Inhibition Improves Cardiomyopathy in Costello Syndrome.
Geddes GC, Parent JJ, Lander J, Jeewa A, Ware SM, Villa C, Chatfield KC, Weaver KN. Geddes GC, et al. Among authors: chatfield kc. J Am Coll Cardiol. 2023 Apr 11;81(14):1439-1441. doi: 10.1016/j.jacc.2023.02.010. J Am Coll Cardiol. 2023. PMID: 37019585 Free article. No abstract available.
Hepatic abnormalities in youth with Turner syndrome.
Singh I, Noel G, Barker JM, Chatfield KC, Furniss A, Khanna AD, Nokoff NJ, Patel S, Pyle L, Nahata L, Cole FS, Ikomi C, Bamba V, Fechner PY, Davis SM. Singh I, et al. Among authors: chatfield kc. Liver Int. 2022 Oct;42(10):2237-2246. doi: 10.1111/liv.15358. Epub 2022 Jul 16. Liver Int. 2022. PMID: 35785515 Free PMC article.
Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team.
de Groote K, Patel SR, Mortensen KH, Witvrouwen I, Duijnhouwer A, Brown NM, Grewal J, Chatfield KC, Dorfman AT, Prakash SK. de Groote K, et al. Among authors: chatfield kc. Am J Med Genet C Semin Med Genet. 2025 Mar 26:e32139. doi: 10.1002/ajmg.c.32139. Online ahead of print. Am J Med Genet C Semin Med Genet. 2025. PMID: 40135715 Review.
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: chatfield kc. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
40 results