{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T11:56:00Z","timestamp":1774785360054,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3944,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,10]]},"DOI":"10.1086\/342774","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T20:15:19Z","timestamp":1034108119000},"page":"969-974","source":"Crossref","is-referenced-by-count":37,"title":["A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease"],"prefix":"10.1016","volume":"71","author":[{"given":"Paola","family":"Griseri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pesce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Patrone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Osinga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Puppo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Sancandi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ravazzolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Devoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Ceccherini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/342774_bib2","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/sj.onc.1202046","article-title":"Grb2 binding to the different isoforms of RET tyrosine-kinase","volume":"17","author":"Alberti","year":"1998","journal-title":"Oncogene"},{"key":"10.1086\/342774_bib3","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1093\/hmg\/4.8.1381","article-title":"Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease","volume":"4","author":"Atti\u00e8","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/342774_bib4","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1086\/302329","article-title":"Double heterozygosity for a RET substitution interfering with splicing and a EDNRB missense mutation in Hirschsprung disease","volume":"64","author":"Auricchio","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342774_bib5","first-page":"568","article-title":"A genetic study of Hirschsprung disease","volume":"46","author":"Badner","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342774_bib6","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1136\/jmg.37.8.572","article-title":"RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease","volume":"37","author":"Borrego","year":"2000","journal-title":"J Med Genet"},{"key":"10.1086\/342774_bib7","first-page":"3025","article-title":"DNA polymorphisms and conditions for SSCP analysis of the exons of the RET proto-oncogene","volume":"9","author":"Ceccherini","year":"1994","journal-title":"Oncogene"},{"key":"10.1086\/342774_bib8","doi-asserted-by":"crossref","first-page":"2433","DOI":"10.1101\/gad.205001","article-title":"Differential activities of the RET tyrosine-kinase receptor isoforms during mammalian embryogenesis","volume":"15","author":"de Graaf","year":"2001","journal-title":"Genes Dev"},{"key":"10.1086\/342774_bib9","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1016\/S0140-6736(02)08218-1","article-title":"Association between c135G\/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease","volume":"359","author":"Fitze","year":"2002","journal-title":"Lancet"},{"key":"10.1086\/342774_bib10","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/ng868","article-title":"Segregation at three loci explains familial and population risk in Hirschsprung disease","volume":"31","author":"Gabriel","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/342774_bib11","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/1438-826X(200012)1:5\/6<184::AID-GNFD184>3.0.CO;2-6","article-title":"An intronic nucleotide variant of the RET proto-oncogene causes Hirschsprung disease by interfering with RNA splicing","volume":"1","author":"Griseri","year":"2000","journal-title":"Gene Funct Dis"},{"key":"10.1086\/342774_bib12","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1038\/sj.ejhg.5200521","article-title":"Decreased frequency of a single nucleotide polymorphism of the RET proto-oncogene in sporadic Hirschsprung disease","volume":"8","author":"Griseri","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/342774_bib13","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1038\/sj.onc.1201622","article-title":"Expression of RET 3\u2032 splicing variants during human kidney development","volume":"16","author":"Ivanchuck","year":"1998","journal-title":"Oncogene"},{"key":"10.1086\/342774_bib14","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1159\/000012118","article-title":"Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas","volume":"58","author":"Le Hir","year":"2000","journal-title":"Oncology"},{"key":"10.1086\/342774_bib15","first-page":"2039","article-title":"Characterization of RET proto-oncogene 3\u2032 splicing variants and polyadenylation sites: a novel C-terminus for RET","volume":"11","author":"Myers","year":"1995","journal-title":"Oncogene"},{"key":"10.1086\/342774_bib16","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1097\/00008480-200012000-00017","article-title":"Genetics of Hirschsprung disease","volume":"12","author":"Parisi","year":"2000","journal-title":"Curr Opin Pediatr"},{"key":"10.1086\/342774_bib17","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.2144\/00295st02","article-title":"Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR","volume":"29","author":"Patrone","year":"2000","journal-title":"Biotechniques"},{"key":"10.1086\/342774_bib18","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/0092-8674(94)90016-7","article-title":"A missense mutation of endothelin-B receptor gene in multigenic Hirschsprung disease","volume":"79","author":"Puffenberger","year":"1994","journal-title":"Cell"},{"key":"10.1086\/342774_bib19","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0014-5793(02)02957-5","article-title":"Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression","volume":"523","author":"Puppo","year":"2002","journal-title":"FEBS Lett"},{"key":"10.1086\/342774_bib20","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000022901","article-title":"Model-free analysis and permutation tests for allelic associations","volume":"50","author":"Zhao","year":"2000","journal-title":"Hum Hered"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603826?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603826?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T04:46:15Z","timestamp":1583815575000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707603826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["S0002929707603826"],"URL":"https:\/\/doi.org\/10.1086\/342774","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}