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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Gomez-Ospina N, et al. Among authors: picarsic jl. Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713. Nat Commun. 2016. PMID: 26888176 Free PMC article.
Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma.
Buryk MA, Picarsic JL, Creary SE, Shaw PH, Simons JP, Deutsch M, Monaco SE, Nikiforov YE, Witchel SF. Buryk MA, et al. Pediatr Dev Pathol. 2015 Jul-Aug;18(4):318-23. doi: 10.2350/15-01-1597-CR.1. Epub 2015 Mar 9. Pediatr Dev Pathol. 2015. PMID: 25751324
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.
Liang J, Alfano DN, Squires JE, Riley MM, Parks WT, Kofler J, El-Gharbawy A, Madan-Kheterpal S, Acquaro R, Picarsic J. Liang J, et al. Among authors: picarsic j. Pediatr Dev Pathol. 2017 Nov-Dec;20(6):498-505. doi: 10.1177/1093526616686890. Epub 2017 Mar 15. Pediatr Dev Pathol. 2017. PMID: 28403691
58 results