Kirk Aleck[Author] - Search Results

Year	Number of Results
2004	2
2005	2
2006	1
2009	2
2010	1
2011	3
2020	2
2025	0

1

Craniosynostosis syndromes in the genomic era.

Aleck K. Aleck K. Semin Pediatr Neurol. 2004 Dec;11(4):256-61. doi: 10.1016/j.spen.2004.10.005. Semin Pediatr Neurol. 2004. PMID: 15828709 Review.

2

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.

3

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.

Gonsalves R, Aleck K, Newbern D, Shaibi G, Kapadia C, Oatman O. Gonsalves R, et al. Among authors: aleck k. Endocrinol Diabetes Metab Case Rep. 2020 Oct 6;2020:20-0042. doi: 10.1530/EDM-20-0042. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2020. PMID: 33434169 Free PMC article.

4

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: aleck k. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

5

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Lo SM, et al. Among authors: aleck k. J Inherit Metab Dis. 2011 Jun;34(3):643-50. doi: 10.1007/s10545-011-9313-9. Epub 2011 Mar 29. J Inherit Metab Dis. 2011. PMID: 21445609 Free PMC article.

6

CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer.

Lew JM, Fei YL, Aleck K, Blencowe BJ, Weksberg R, Sadowski PD. Lew JM, et al. Among authors: aleck k. Am J Med Genet A. 2004 Jun 15;127A(3):268-76. doi: 10.1002/ajmg.a.30020. Am J Med Genet A. 2004. PMID: 15150778

7

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. Taddei TH, et al. Among authors: aleck ka. Am J Hematol. 2009 Apr;84(4):208-14. doi: 10.1002/ajh.21362. Am J Hematol. 2009. PMID: 19260119 Free PMC article.

8

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

9

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Schaaf CP, et al. Among authors: aleck ka. Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20. Eur J Hum Genet. 2011. PMID: 20959866 Free PMC article.

10

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

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