• Arias, I. M. (1962) Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. J Clin Invest 41, 22332245.
  • Arias, I. M., Gartner, L. M., Cohen, M., Ben-Ezzer, J., & Levi, A. J. (1968) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency: Evidence for genetic heterogeneity. Trans Assoc Am Physicians 81, 6675.
  • Bartlett, M. G. & Gourley, G. R. (2011) Assessment of UGT polymorphisms and neonatal jaundice. Semin Perinatol 35, 127133.
  • Bosma, P. J., Chowdhury, J. R., Bakker, C., Gantla, S., de Boer, A., Oostra, B. A., Lindhout, D., Tytgat, G. N., Jansen, P. L., Oude Elferink, R. P., & Chowdhury, N. R. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333, 11711175.
  • Bosma, P. J., Seppen, J., Goldhoorn, B., Bakker, C., Oude Elferink, R. P., Chowdhry, J. R., Chowdhry, N. R., & Jansen, P. L. (1994) Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 269, 1796017964.
  • Burchell, B., Brierley, C. H., Monaghan, G., & Clarke, D. J. (1997) The structure and function of the UDP-glucuronosyltransferase gene family. Adv Pharmacol 42, 335338.
  • Canu, G., Minucci, A., Zuppi, C., & Capoluongo, E. (2013) Gilbert and Crigler-Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database. Blood Cells Mol Dis 50, 273280.
  • Crigler, J. F. & Najjar, V. A. (1952) Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 10, 169179.
  • Gong, Q. H., Cho, J. W., Huang, T., Potter, C., Gholami, N., Basu, N., Kubota, S., Carvalho, S., Pennington, M. W., Owens, I. S., & Popescu, N. C. (2001) Thirteen UDP glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11, 357368.
  • Hall, T. A. (1999). BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser 41, 9598.
  • Huang, C. S., Tan, N., Yang, S. S., Sug, Y. C., & Huang, M. J. (2006) Crigler-Najjar syndrome Type 2. J Formos Med Assoc 105, 950953.
  • Kadakol, A., Ghosh, S. S., Sappal, B. S., Sharma, G., Chowdhury, J. R., & Chowdhury, N. R. (2000) Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype. Hum Mutat 16, 297306.
  • Kadakol, A., Sappal, B. S., Ghosh, S. S., Lowenheim, M., Chowdhury, A., Chowdhury, S., Santra, A., Arias, I. M., Chowdhury, J. R., & Chowdhury, N. R. (2001) Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinemia and may lead to neonatal kernicterus. J Med Genet 38, 244249.
  • Kohli, S., Saxena, R., & Verma, I. C. (2010) Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1. Hum Genet 127, 463490.
  • Kurkela, M., García-Horsman, J. A., Luukkanen, L., Mörsky, S., Taskinen, J., Baumann, M., Kostiainen, R., Hirvonen, J., & Finel, M. (2003) Expression and characterization of recombinant human UDP-glucuronosyltransferases (UGTs). J Biol Chem 278, 35363544.
  • Li, D., Fournel-Gigleux, S., Barré, L., Mulliert, G., Netter, P, Magdalou, J., & Ouzzine, M. (2007) Identification of aspartic acid and histidine residues mediating the reaction mechanism and the substrate specificity of the human UDP-glucuronosyltransferases 1A. J Biol Chem 282, 3651436524.
  • Minucci, A., Concolino, P., Giardina, B., Zuppi, C., & Capoluongo, E. (2010) Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis. Clin Chim Acta 411, 246249.
  • Moghrabi, N., Clarke, D. J., Burchell, B., & Boxer, M. (1993) Co-segregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type 1: Implication in carrier detection and prenatal diagnosis. Am J Hum Genet 53, 722729.
  • Ozçay, F., Alehan, F., Sevmiş, S., Karakayali, H., Moray, G., Torgay, A., Arslan, G., & Haberal, M. (2009) Living related liver transplantation in Crigler-Najjar syndrome type 1. Transplant Proc 41, 28752877
  • Ritter, J. K., Chen, F., Sheen, Y. Y., Tran, H. M., Kimura, S., Yeatman, M. T., & Owens, I. S. (1992) A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 267, 32573261.
  • Sampietro, M. & Iolascon, A. (1999) Molecular pathology of Crigler–Najjar type 1 and II and Gilbert's syndromes. Hematol J 84, 150157.
  • Seppen, J., Bosma, P. J., Goldhoorn, B. G., Bakker, C. T., Chowdhury, J. R., Chowdhury, N. R., Jansen, P. L., & Oude Elferink, R. P. (1994) Discrimination between Crigler-Najjar type 1 and 2 by expression of mutant bilirubin uridine diphosphate glucuronosyltransferase. J Clin Invest 94, 23852391.