{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T11:52:55Z","timestamp":1723463575882},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Diagn Ther"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1007\/s40291-017-0265-0","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T15:11:50Z","timestamp":1487344310000},"page":"327-335","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory"],"prefix":"10.1007","volume":"21","author":[{"given":"Ann M.","family":"Moyer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer M.","family":"Skierka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina E.","family":"Kotzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle L.","family":"Kluge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John L.","family":"Black","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linnea M.","family":"Baudhuin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"issue":"10","key":"265_CR1","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.1093\/clinchem\/40.10.1934","volume":"40","author":"DK Stevenson","year":"1994","unstructured":"Stevenson DK, Vreman HJ, Oh W, Fanaroff AA, Wright LL, Lemons JA, et al. Bilirubin production in healthy term infants as measured by carbon monoxide in breath. Clin Chem. 1994;40(10):1934\u20139.","journal-title":"Clin Chem"},{"issue":"1","key":"265_CR2","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/j.1365-2362.1991.tb01363.x","volume":"21","author":"D Ullrich","year":"1991","unstructured":"Ullrich D, Fevery J, Sieg A, Tischler T, Bircher J. The influence of gestational age on bilirubin conjugation in newborns. Eur J Clin Invest. 1991;21(1):83\u20139.","journal-title":"Eur J Clin Invest"},{"issue":"2","key":"265_CR3","doi-asserted-by":"crossref","first-page":"61","DOI":"10.4103\/2249-4847.116402","volume":"2","author":"VK Bhutani","year":"2013","unstructured":"Bhutani VK, Wong RJ. Bilirubin neurotoxicity in preterm infants: risk and prevention. J Clin Neonatol. 2013;2(2):61\u20139.","journal-title":"J Clin Neonatol."},{"issue":"4","key":"265_CR4","doi-asserted-by":"crossref","first-page":"e925","DOI":"10.1542\/peds.2011-0206","volume":"128","author":"R Gamaleldin","year":"2011","unstructured":"Gamaleldin R, Iskander I, Seoud I, Aboraya H, Aravkin A, Sampson PD, et al. Risk factors for neurotoxicity in newborns with severe neonatal hyperbilirubinemia. Pediatrics. 2011;128(4):e925\u201331.","journal-title":"Pediatrics"},{"issue":"1","key":"265_CR5","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1542\/peds.103.1.6","volume":"103","author":"VK Bhutani","year":"1999","unstructured":"Bhutani VK, Johnson L, Sivieri EM. Predictive ability of a predischarge hour-specific serum bilirubin for subsequent significant hyperbilirubinemia in healthy term and near-term newborns. Pediatrics. 1999;103(1):6\u201314.","journal-title":"Pediatrics"},{"issue":"4","key":"265_CR6","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1001\/archpedi.154.4.391","volume":"154","author":"VA Moyer","year":"2000","unstructured":"Moyer VA, Ahn C, Sneed S. Accuracy of clinical judgment in neonatal jaundice. Arch Pediatr Adolesc Med. 2000;154(4):391\u20134.","journal-title":"Arch Pediatr Adolesc Med"},{"issue":"1","key":"265_CR7","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1542\/peds.114.1.297","volume":"114","author":"American Academy of Pediatrics Subcommittee on Hyperbilirubinemia","year":"2004","unstructured":"American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004;114(1):297\u2013316.","journal-title":"Pediatrics"},{"issue":"4","key":"265_CR8","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0022-3476(77)80360-0","volume":"90","author":"LM Gartner","year":"1977","unstructured":"Gartner LM, Lee KS, Vaisman S, Lane D, Zarafu I. Development of bilirubin transport and metabolism in the newborn rhesus monkey. J Pediatr. 1977;90(4):513\u201331.","journal-title":"J Pediatr"},{"issue":"1","key":"265_CR9","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1042\/bj1960257","volume":"196","author":"N Kawade","year":"1981","unstructured":"Kawade N, Onishi S. The prenatal and postnatal development of UDP-glucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver. Biochem J. 1981;196(1):257\u201360.","journal-title":"Biochem J"},{"issue":"4","key":"265_CR10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.bcmd.2013.01.003","volume":"50","author":"G Canu","year":"2013","unstructured":"Canu G, Minucci A, Zuppi C, Capoluongo E. Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database. Blood Cells Mol Dis. 2013;50(4):273\u201380.","journal-title":"Blood Cells Mol Dis"},{"issue":"3","key":"265_CR11","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1182\/blood.V91.3.1093","volume":"91","author":"A Iolascon","year":"1998","unstructured":"Iolascon A, Faienza MF, Moretti A, Perrotta S, Miraglia del Giudice E. UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood. 1998;91(3):1093.","journal-title":"Blood"},{"issue":"22","key":"265_CR12","doi-asserted-by":"crossref","first-page":"12128","DOI":"10.1073\/pnas.94.22.12128","volume":"94","author":"M Kaplan","year":"1997","unstructured":"Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc Natl Acad Sci USA. 1997;94(22):12128\u201332.","journal-title":"Proc Natl Acad Sci USA."},{"issue":"5","key":"265_CR13","doi-asserted-by":"crossref","first-page":"E59","DOI":"10.1542\/peds.106.5.e59","volume":"106","author":"Y Maruo","year":"2000","unstructured":"Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M. Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene. Pediatrics. 2000;106(5):E59.","journal-title":"Pediatrics"},{"issue":"4","key":"265_CR14","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S0022-3476(99)70201-5","volume":"134","author":"G Monaghan","year":"1999","unstructured":"Monaghan G, McLellan A, McGeehan A, Li Volti S, Mollica F, Salemi I, et al. Gilbert\u2019s syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J Pediatr. 1999;134(4):441\u20136.","journal-title":"J Pediatr"},{"issue":"2","key":"265_CR15","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1046\/j.1365-2141.1997.4113228.x","volume":"99","author":"M Sampietro","year":"1997","unstructured":"Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, et al. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol. 1997;99(2):437\u20139.","journal-title":"Br J Haematol"},{"issue":"5","key":"265_CR16","doi-asserted-by":"crossref","first-page":"e868","DOI":"10.1542\/peds.2009-0460","volume":"124","author":"JF Watchko","year":"2009","unstructured":"Watchko JF, Lin Z, Clark RH, Kelleher AS, Walker MW, Spitzer AR. Complex multifactorial nature of significant hyperbilirubinemia in neonates. Pediatrics. 2009;124(5):e868\u201377.","journal-title":"Pediatrics"},{"issue":"6","key":"265_CR17","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.jpeds.2012.11.042","volume":"162","author":"JM Skierka","year":"2013","unstructured":"Skierka JM, Kotzer KE, Lagerstedt SA, O\u2019Kane DJ, Baudhuin LM. UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia. J Pediatr. 2013;162(6):1146\u201352.","journal-title":"J Pediatr."},{"issue":"1","key":"265_CR18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"PD Stenson","year":"2014","unstructured":"Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1\u20139.","journal-title":"Hum Genet"},{"issue":"4","key":"265_CR19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/GIM.0b013e31816b5cae","volume":"10","author":"CS Richards","year":"2008","unstructured":"Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med. 2008;10(4):294\u2013300.","journal-title":"Genet Med."},{"issue":"4","key":"265_CR20","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248\u20139.","journal-title":"Nat Methods"},{"issue":"3","key":"265_CR21","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","volume":"4","author":"MG Reese","year":"1997","unstructured":"Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol. 1997;4(3):311\u201323.","journal-title":"J Comput Biol"},{"issue":"2\u20133","key":"265_CR22","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11(2\u20133):377\u201394.","journal-title":"J Comput Biol"},{"issue":"5","key":"265_CR23","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1093\/hmg\/7.5.919","volume":"7","author":"MQ Zhang","year":"1998","unstructured":"Zhang MQ. Statistical features of human exons and their flanking regions. Hum Mol Genet. 1998;7(5):919\u201332.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"265_CR24","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.gene.2014.09.009","volume":"552","author":"Z Chen","year":"2014","unstructured":"Chen Z, Su D, Ai L, Jiang X, Wu C, Xu Q, et al. UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis. Gene. 2014;552(1):32\u20138.","journal-title":"Gene"},{"issue":"9","key":"265_CR25","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1097\/00008571-200212000-00006","volume":"12","author":"F Innocenti","year":"2002","unstructured":"Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, et al. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002;12(9):725\u201333.","journal-title":"Pharmacogenetics."},{"key":"265_CR26","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/1471-230X-10-57","volume":"10","author":"K Matsui","year":"2010","unstructured":"Matsui K, Maruo Y, Sato H, Takeuchi Y. Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. BMC Gastroenterol. 2010;10:57.","journal-title":"BMC Gastroenterol."},{"issue":"2","key":"265_CR27","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1006\/bbrc.2002.6683","volume":"292","author":"J Sugatani","year":"2002","unstructured":"Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, et al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun. 2002;292(2):492\u20137.","journal-title":"Biochem Biophys Res Commun."},{"issue":"4","key":"265_CR28","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1203\/PDR.0b013e3181d22f78","volume":"67","author":"S Yusoff","year":"2010","unstructured":"Yusoff S, Takeuchi A, Ashi C, Tsukada M, Ma\u2019amor NH, Zilfalil BA, et al. A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population. Pediatr Res. 2010;67(4):401\u20136.","journal-title":"Pediatr Res"},{"key":"265_CR29","first-page":"546909","volume":"2013","author":"F Rahim","year":"2013","unstructured":"Rahim F, Galehdari H, Mohammadi-Asl J, Saki N. Regression modeling and meta-analysis of diagnostic accuracy of SNP-based pathogenicity detection tools for UGT1A1 Gene mutation. Genet Res Int. 2013;2013:546909.","journal-title":"Genet Res Int."},{"issue":"2","key":"265_CR30","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/0016-5085(84)90705-4","volume":"87","author":"M Muraca","year":"1984","unstructured":"Muraca M, Fevery J. Influence of sex and sex steroids on bilirubin uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology. 1984;87(2):308\u201313.","journal-title":"Gastroenterology"},{"issue":"8","key":"265_CR31","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1093\/clinchem\/30.8.1380","volume":"30","author":"P Rosenthal","year":"1984","unstructured":"Rosenthal P, Pincus M, Fink D. Sex- and age-related differences in bilirubin concentrations in serum. Clin Chem. 1984;30(8):1380\u20132.","journal-title":"Clin Chem"},{"issue":"2","key":"265_CR32","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/01.PCC.0000154961.37833.79","volume":"6","author":"JA Tioseco","year":"2005","unstructured":"Tioseco JA, Aly H, Milner J, Patel K, El-Mohandes AA. Does gender affect neonatal hyperbilirubinemia in low-birth-weight infants? Pediatr Crit Care Med. 2005;6(2):171\u20134.","journal-title":"Pediatr Crit Care Med."},{"issue":"Suppl 1","key":"265_CR33","doi-asserted-by":"crossref","first-page":"S25","DOI":"10.1038\/jp.2008.211","volume":"29","author":"L Johnson","year":"2009","unstructured":"Johnson L, Bhutani VK, Karp K, Sivieri EM, Shapiro SM. Clinical report from the pilot USA Kernicterus Registry (1992\u20132004). J Perinatol. 2009;29(Suppl 1):S25\u201345.","journal-title":"J Perinatol"},{"issue":"3","key":"265_CR34","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1542\/peds.2014-0035","volume":"134","author":"JP Petersen","year":"2014","unstructured":"Petersen JP, Henriksen TB, Hollegaard MV, Vandborg PK, Hougaard DM, Thorlacius-Ussing O, et al. Extreme neonatal hyperbilirubinemia and a specific genotype: a population-based case\u2013control study. Pediatrics. 2014;134(3):510\u20135.","journal-title":"Pediatrics"},{"issue":"1","key":"265_CR35","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.jpeds.2014.03.013","volume":"165","author":"L Travan","year":"2014","unstructured":"Travan L, Lega S, Crovella S, Montico M, Panontin E, Demarini S. Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism. J Pediatr. 2014;165(1):42\u20135.","journal-title":"J Pediatr"}],"container-title":["Molecular Diagnosis &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-017-0265-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40291-017-0265-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-017-0265-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,2]],"date-time":"2020-10-02T16:51:30Z","timestamp":1601657490000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40291-017-0265-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,17]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["265"],"URL":"https:\/\/doi.org\/10.1007\/s40291-017-0265-0","relation":{},"ISSN":["1177-1062","1179-2000"],"issn-type":[{"value":"1177-1062","type":"print"},{"value":"1179-2000","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,17]]}}}