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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: loomes km. 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.
Pathologic lower extremity fractures in children with Alagille syndrome.
Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A, Loomes KM. Bales CB, et al. Among authors: loomes km. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. doi: 10.1097/MPG.0b013e3181cb9629. J Pediatr Gastroenterol Nutr. 2010. PMID: 20453673 Free PMC article.
Renal anomalies in Alagille syndrome: a disease-defining feature.
Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. Kamath BM, et al. Among authors: loomes km. Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105858 Free PMC article.
NOTCH2 mutations in Alagille syndrome.
Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB. Kamath BM, et al. Among authors: loomes km. J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29. J Med Genet. 2012. PMID: 22209762 Free PMC article.
181 results