{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:49:08Z","timestamp":1792626548647,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,7,31]],"date-time":"2011-07-31T00:00:00Z","timestamp":1312070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p>\n                    Guegan K, Stals K, Day M, Turnpenny P, Ellard S.\n                    <jats:italic>JAG1<\/jats:italic>\n                    mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.\n                  <\/jats:p>\n                  <jats:p>\n                    Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous\n                    <jats:italic>JAG1<\/jats:italic>\n                    gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of\n                    <jats:italic>JAG1<\/jats:italic>\n                    mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group.\n                    <jats:italic>JAG1<\/jats:italic>\n                    mutations were identified in 59\/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick\u2010up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a\n                    <jats:italic>JAG1<\/jats:italic>\n                    gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family.\n                  <\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01749.x","type":"journal-article","created":{"date-parts":[[2011,7,13]],"date-time":"2011-07-13T16:19:30Z","timestamp":1310573970000},"page":"33-40","source":"Crossref","is-referenced-by-count":54,"title":["<i>JAG1<\/i>\n                    mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome"],"prefix":"10.1111","volume":"82","author":[{"given":"K","family":"Guegan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Stals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Day","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Turnpenny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,7,31]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80153-1"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510290331"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.891"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-235"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/505332"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318133a802"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20310"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9313"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/301875"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9095"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.2337\/db07-1633"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(99)70017-X"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(75)90034-X"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000037221.45902.69"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.49.3.431"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2011.01749.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2011.01749.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T07:01:17Z","timestamp":1698735677000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2011.01749.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,31]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1111\/j.1399-0004.2011.01749.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01749.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7,31]]}}}