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230 results

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Page 1
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF. Sheffield BS, et al. Among authors: lee af. Pediatr Dev Pathol. 2015 May-Jun;18(3):237-44. doi: 10.2350/14-07-1525-CR.1. Epub 2015 Feb 10. Pediatr Dev Pathol. 2015. PMID: 25668678 Review.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Gripp KW, et al. Among authors: lee af. Am J Med Genet A. 2016 Mar;170(3):559-64. doi: 10.1002/ajmg.a.37471. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26572961 Free PMC article.
The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.
Tessier-Cloutier B, Grewal JK, Jones MR, Pleasance E, Shen Y, Cai E, Dunham C, Hoang L, Horst B, Huntsman DG, Ionescu D, Karnezis AN, Lee AF, Lee CH, Lee TH, Twa DD, Mungall AJ, Mungall K, Naso JR, Ng T, Schaeffer DF, Sheffield BS, Skinnider B, Smith T, Williamson L, Zhong E, Regier DA, Laskin J, Marra MA, Gilks CB, Jones SJ, Yip S. Tessier-Cloutier B, et al. Among authors: lee af, lee ch, lee th. J Pathol Clin Res. 2022 Jul;8(4):395-407. doi: 10.1002/cjp2.265. Epub 2022 Mar 8. J Pathol Clin Res. 2022. PMID: 35257510 Free PMC article.
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Among authors: lee af. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.
Clinical response to nivolumab in an INI1-deficient pediatric chordoma correlates with immunogenic recognition of brachyury.
Williamson LM, Rive CM, Di Francesco D, Titmuss E, Chun HE, Brown SD, Milne K, Pleasance E, Lee AF, Yip S, Rosenbaum DG, Hasselblatt M, Johann PD, Kool M, Harvey M, Dix D, Renouf DJ, Holt RA, Nelson BH, Hirst M, Jones SJM, Laskin J, Rassekh SR, Deyell RJ, Marra MA. Williamson LM, et al. Among authors: lee af. NPJ Precis Oncol. 2021 Dec 20;5(1):103. doi: 10.1038/s41698-021-00238-4. NPJ Precis Oncol. 2021. PMID: 34931022 Free PMC article.
Comparative RNA-Sequencing Analysis Benefits a Pediatric Patient With Relapsed Cancer.
Newton Y, Rassekh SR, Deyell RJ, Shen Y, Jones MR, Dunham C, Yip S, Leelakumari S, Zhu J, McColl D, Swatloski T, Salama SR, Ng T, Hendson G, Lee AF, Ma Y, Moore R, Mungall AJ, Haussler D, Stuart JM, Jantzen C, Laskin J, Jones SJM, Marra MA, Morozova O. Newton Y, et al. Among authors: lee af. JCO Precis Oncol. 2018;2:PO.17.00198. doi: 10.1200/PO.17.00198. Epub 2018 Apr 19. JCO Precis Oncol. 2018. PMID: 31372595 Free PMC article.
230 results