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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: piccoli d. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Pancreatic insufficiency is not a prevalent problem in Alagille syndrome.
Kamath BM, Piccoli DA, Magee JC, Sokol RJ; Childhood Liver Disease Research and Education Network. Kamath BM, et al. J Pediatr Gastroenterol Nutr. 2012 Nov;55(5):612-4. doi: 10.1097/MPG.0b013e31825eff61. J Pediatr Gastroenterol Nutr. 2012. PMID: 22614108 Free PMC article.
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM Jr, Kocoshis SA, Reyes J, Knisely AS. Bull LN, et al. Among authors: piccoli da. Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121. Hepatology. 1997. PMID: 9214465
Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Among authors: piccoli da. J Med Genet. 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. J Med Genet. 1997. PMID: 9039994 Free PMC article. Review.
156 results