{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T15:29:00Z","timestamp":1696001340388},"reference-count":22,"publisher":"Informa UK Limited","issue":"3","content-domain":{"domain":["www.tandfonline.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[2016,7,2]]},"DOI":"10.3109\/13816810.2015.1059459","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T21:54:40Z","timestamp":1454709280000},"page":"307-313","update-policy":"http:\/\/dx.doi.org\/10.1080\/tandf_crossmark_01","source":"Crossref","is-referenced-by-count":7,"title":["Screening of <i>PAX6<\/i> gene in Italian congenital aniridia patients revealed four novel mutations"],"prefix":"10.3109","volume":"37","author":[{"given":"Paola","family":"Primignani","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Allegrini","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Manfredini","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenza","family":"Romitti","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Pathology and Cytogenetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Mauri","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Patrosso","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Veniani","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Franzoni","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Azienda Ospedaliero-Universitaria Udine, Udine, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Del Longo","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni Pietro","family":"Gesu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Piozzi","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Damante","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Azienda Ospedaliero-Universitaria Udine, Udine, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Penco","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Medical Genetics, Niguarda Ca\u2019 Granda Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2016,2,5]]},"reference":[{"key":"CIT0001","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(79)90238-1"},{"key":"CIT0002","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(84)90184-X"},{"key":"CIT0003","first-page":"389","volume":"12","author":"Shaw MW","year":"1960","journal-title":"Am J Hum Genet"},{"key":"CIT0004","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196404302701802"},{"key":"CIT0005","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90284-6"},{"key":"CIT0006","doi-asserted-by":"publisher","DOI":"10.1016\/0959-437X(93)90095-7"},{"key":"CIT0007","doi-asserted-by":"publisher","DOI":"10.1002\/neu.480241009"},{"key":"CIT0008","doi-asserted-by":"publisher","DOI":"10.1038\/ng1192-232"},{"key":"CIT0009","first-page":"511","volume":"13","author":"Dansault A","year":"2007","journal-title":"Mol Vis"},{"key":"CIT0010","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.259"},{"key":"CIT0011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-328"},{"key":"CIT0012","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-463"},{"key":"CIT0013","first-page":"2239","volume":"15","author":"Ng TK","year":"2009","journal-title":"Mol Vis"},{"key":"CIT0014","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2827"},{"issue":"27","key":"CIT0015","volume":"6","author":"Tzoulaki I","year":"2005","journal-title":"BMC Genet"},{"key":"CIT0016","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"CIT0017","first-page":"558","volume-title":"Am J Med Genet Part A","volume":"146","author":"Robinson DO","year":"2008"},{"key":"CIT0018","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20654"},{"key":"CIT0019","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"CIT0020","first-page":"2093","volume":"2","author":"Davis A","year":"1993","journal-title":"Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet"},{"key":"CIT0021","doi-asserted-by":"crossref","unstructured":"Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232.","DOI":"10.1038\/ng1192-232"},{"key":"CIT0022","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-41874"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.3109\/13816810.2015.1059459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T17:47:30Z","timestamp":1598723250000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.3109\/13816810.2015.1059459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,5]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,7,2]]}},"alternative-id":["10.3109\/13816810.2015.1059459"],"URL":"https:\/\/doi.org\/10.3109\/13816810.2015.1059459","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"value":"1381-6810","type":"print"},{"value":"1744-5094","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,5]]},"assertion":[{"value":"The publishing and review policy for this title is described in its Aims & Scope.","order":1,"name":"peerreview_statement","label":"Peer Review Statement"},{"value":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","URL":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","order":2,"name":"aims_and_scope_url","label":"Aim & Scope"},{"value":"2015-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-06-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-02-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}