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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Persistent Short Sleep Duration From Pregnancy to 2 to 7 Years After Delivery and Metabolic Health.
Kim M, Wiener LE, Gilbert J, McNeil RB, Reid KJ, Grobman WA, Facco F, Haas DM, Silver RM, Greenland P, Yee LM, Zee PC; Eunice Kennedy Shriver National Institute of Child Health and Human Development NuMoM2b and National Heart, Lung, and Blood Institute NuMoM2b Heart Health Study Network. Kim M, et al. JAMA Netw Open. 2024 Dec 2;7(12):e2452204. doi: 10.1001/jamanetworkopen.2024.52204. JAMA Netw Open. 2024. PMID: 39724370 Free PMC article.
Identifying meaningful aspects of health and concepts of interest for assessment in systemic lupus erythematosus: implications for digital clinical measure development.
Kamudoni P, Lyden K, Günther O, Jaitely V, Araujo TD, Spies E, Park J, Thomas E, Buie J, Blankenship JM, Arnaud L. Kamudoni P, et al. Among authors: thomas e. J Patient Rep Outcomes. 2024 Dec 24;8(1):154. doi: 10.1186/s41687-024-00832-7. J Patient Rep Outcomes. 2024. PMID: 39718677 Free PMC article.
5,384 results