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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. Chen Y, et al. Among authors: russo p. PLoS Genet. 2018 Aug 13;14(8):e1007532. doi: 10.1371/journal.pgen.1007532. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30102696 Free PMC article.
Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy.
Russo P, Magee JC, Boitnott J, Bove KE, Raghunathan T, Finegold M, Haas J, Jaffe R, Kim GE, Magid M, Melin-Aldana H, White F, Whitington PF, Sokol RJ; Biliary Atresia Research Consortium. Russo P, et al. Clin Gastroenterol Hepatol. 2011 Apr;9(4):357-362.e2. doi: 10.1016/j.cgh.2011.01.003. Epub 2011 Jan 14. Clin Gastroenterol Hepatol. 2011. PMID: 21238606 Free PMC article.
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: russo p. Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532898 Free PMC article.
Extrahepatic cholangiocyte cilia are abnormal in biliary atresia.
Karjoo S, Hand NJ, Loarca L, Russo PA, Friedman JR, Wells RG. Karjoo S, et al. J Pediatr Gastroenterol Nutr. 2013 Jul;57(1):96-101. doi: 10.1097/MPG.0b013e318296e525. J Pediatr Gastroenterol Nutr. 2013. PMID: 23609896 Free PMC article.
2,191 results