{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T02:41:07Z","timestamp":1788921667309,"version":"build-2803163510"},"reference-count":44,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,12,1]]},"DOI":"10.1136\/jmg.38.12.e46","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:32:19Z","timestamp":1027751539000},"page":"e46-e46","source":"Crossref","is-referenced-by-count":23,"title":["De novo mutations in the 5\u2032 regulatory region of the Norrie disease gene in retinopathy of prematurity"],"prefix":"10.1136","volume":"38","author":[{"given":"S James","family":"Talks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Ebenezer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phil","family":"Hykin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gill","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fung","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Schulenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Gregory-Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl Y","family":"Gregory-Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,12,1]]},"reference":[{"key":"2025101800512770000_38.12.e46.1","doi-asserted-by":"publisher","DOI":"10.1097\/00055735-199906000-00001"},{"key":"2025101800512770000_38.12.e46.2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/bjo.82.1.9","article-title":"The contribution of low birth weight to severe vision loss in a geographically defined population.","volume":"82","author":"Crofts","year":"1998","journal-title":"Br J Ophthalmol"},{"key":"2025101800512770000_38.12.e46.3","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1136\/bmj.319.7217.1093","article-title":"Prediction of survival for preterm births by weight and gestational age: restrospective population based study.","volume":"319","author":"Draper","year":"1999","journal-title":"BMJ"},{"key":"2025101800512770000_38.12.e46.4","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1469-8749.1994.tb11853.x","article-title":"Causes of blindness and severe visual impairment in children in Chile.","volume":"36","author":"Gilbert","year":"1994","journal-title":"Dev Med Child Neurol"},{"key":"2025101800512770000_38.12.e46.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)01107-0"},{"key":"2025101800512770000_38.12.e46.6","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/S0140-6736(88)90820-3","article-title":"Epidemiology of retinopathy of prematurity.","volume":"2","author":"Ng","year":"1988","journal-title":"Lancet"},{"key":"2025101800512770000_38.12.e46.7","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/S0161-6420(91)32074-8","article-title":"Incidence and early course of retinopathy of prematurity.","volume":"98","author":"Palmer","year":"1991","journal-title":"Ophthalmology"},{"key":"2025101800512770000_38.12.e46.8","doi-asserted-by":"publisher","DOI":"10.1136\/adc.60.8.698"},{"key":"2025101800512770000_38.12.e46.9","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.1651-2227.1994.tb13067.x","article-title":"Retinopathy of prematurity: a review of a seven-year period in a Danish neonatal intensive-care unit.","volume":"83","author":"Arroe","year":"1994","journal-title":"Acta Paediatr"},{"key":"2025101800512770000_38.12.e46.10","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1111\/j.1755-3768.1961.tb07740.x","article-title":"Norrie's disease: a new hereditary bilateral pseudotumour of the retina.","volume":"39","author":"Warburg","year":"1961","journal-title":"Acta Ophthalmol"},{"key":"2025101800512770000_38.12.e46.11","first-page":"1","article-title":"Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.","volume":"89","author":"Warburg","year":"1966","journal-title":"Acta Ophthalmol Copenh"},{"key":"2025101800512770000_38.12.e46.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-199"},{"key":"2025101800512770000_38.12.e46.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-204"},{"key":"2025101800512770000_38.12.e46.14","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150653015"},{"key":"2025101800512770000_38.12.e46.15","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00611-8"},{"key":"2025101800512770000_38.12.e46.16","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/eye.1994.124","article-title":"The molecular biology of Norrie's disease.","volume":"8","author":"Black","year":"1994","journal-title":"Eye"},{"key":"2025101800512770000_38.12.e46.17","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.","volume":"51","author":"Allen","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025101800512770000_38.12.e46.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-139"},{"key":"2025101800512770000_38.12.e46.19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380050403"},{"key":"2025101800512770000_38.12.e46.20","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-180"},{"key":"2025101800512770000_38.12.e46.21","first-page":"S565","article-title":"Identification of a new Norrie disease gene mutation in an African-American infant with advanced retinopathy of prematurity.","volume":"40","author":"Buffenn","year":"1999","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2025101800512770000_38.12.e46.22","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199801293380511"},{"key":"2025101800512770000_38.12.e46.23","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247335"},{"key":"2025101800512770000_38.12.e46.24","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1177\/112067219900900312","article-title":"Norrie disease and exudative vitreoretinopathy in families with affected female carriers.","volume":"9","author":"Shastry","year":"1999","journal-title":"Eur J Ophthalmol"},{"key":"2025101800512770000_38.12.e46.25","unstructured":"Mueller RF Young ID (1998) Developmental genetics. Emery's elements of medical genetics (Churchill Livingstone, London), 10th ed.."},{"key":"2025101800512770000_38.12.e46.26","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.10.1727"},{"key":"2025101800512770000_38.12.e46.27","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.12.813"},{"key":"2025101800512770000_38.12.e46.28","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150519012"},{"key":"2025101800512770000_38.12.e46.29","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010415)100:1<52::AID-AJMG1214>3.0.CO;2-B"},{"key":"2025101800512770000_38.12.e46.30","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"2025101800512770000_38.12.e46.31","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207374"},{"key":"2025101800512770000_38.12.e46.32","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199801293380504"},{"key":"2025101800512770000_38.12.e46.33","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R"},{"key":"2025101800512770000_38.12.e46.34","first-page":"1092","article-title":"Hemophilia B in a female caused by skewed inactivation of the normal X-chromosome.","volume":"85","author":"Espin\u00f3s","year":"2000","journal-title":"Haematologica"},{"key":"2025101800512770000_38.12.e46.35","first-page":"289","article-title":"Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X-chromosome in a karyotypically normal girl.","volume":"49","author":"Clarke","year":"1991","journal-title":"Am J Hum Genet"},{"key":"2025101800512770000_38.12.e46.36","first-page":"1111","article-title":"Heritability of X chromosome-inactivation phenotype in a large family.","volume":"58","author":"Naumova","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101800512770000_38.12.e46.37","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1197-353","article-title":"A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.","volume":"17","author":"Plenge","year":"1997","journal-title":"Nat Genet"},{"key":"2025101800512770000_38.12.e46.38","first-page":"S30","article-title":"Dinucleotide repeat expansion in the Norrie disease gene in a patient with advanced retinopathy of prematurity.","volume":"41","author":"Hiraoka","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2025101800512770000_38.12.e46.39","doi-asserted-by":"publisher","DOI":"10.1159\/000014199"},{"key":"2025101800512770000_38.12.e46.40","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-376"},{"key":"2025101800512770000_38.12.e46.41","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900026"},{"key":"2025101800512770000_38.12.e46.42","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.51"},{"key":"2025101800512770000_38.12.e46.43","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1007\/BF00176299","article-title":"The ocular pathology of Norrie disease in a fetus of 11 weeks gestational age.","volume":"230","author":"Parsons","year":"1992","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"2025101800512770000_38.12.e46.44","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.2.295"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.12.e46","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:51:37Z","timestamp":1760773897000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.12.e46"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12,1]]},"references-count":44,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2001,12,1]]},"published-print":{"date-parts":[[2001,12,1]]}},"alternative-id":["10.1136\/jmg.38.12.e46"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.12.e46","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12,1]]}}}