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Page 1
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: aleck ka. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.
Schneider A, Nakagawa S, Keep R, Dorsainville D, Charrow J, Aleck K, Hoffman J, Minkoff S, Finegold D, Sun W, Spencer A, Lebow J, Zhan J, Apfelroth S, Schreiber-Agus N, Gross S. Schneider A, et al. Among authors: aleck k. Am J Med Genet A. 2009 Nov;149A(11):2444-7. doi: 10.1002/ajmg.a.33085. Am J Med Genet A. 2009. PMID: 19876898
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Garcia-Barceló M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK. Garcia-Barceló M, et al. Among authors: aleck k. Clin Chem. 2006 Jan;52(1):46-52. doi: 10.1373/clinchem.2005.056192. Epub 2005 Oct 27. Clin Chem. 2006. PMID: 16254195
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: aleck k. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
11 results