{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:54:00Z","timestamp":1759694040226},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied a three\u2010generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28\u2010p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.<\/jats:p>","DOI":"10.1002\/ajmg.1320330415","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:06:58Z","timestamp":1118545618000},"page":"485-488","source":"Crossref","is-referenced-by-count":28,"title":["Microdeletion in the X\u2010chromosome and prenatal diagnosis in a family with Norrie disease"],"prefix":"10.1002","volume":"33","author":[{"given":"Danping","family":"Zhu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara J.","family":"Schmeckpeper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul J.","family":"Diergaarde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne E.","family":"Greb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene H.","family":"Maumenee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"546","article-title":"A strategy to reveal high frequency RFLPs along the human X chromosome","volume":"36","author":"Adridge J","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91325-X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284575"},{"key":"e_1_2_1_5_1","first-page":"428","article-title":"Molecular analysis of the human X chromosome","volume":"37","author":"Bruns G","year":"1984","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.1.155"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00405.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"DiergaardePJ Bleeker\u2010WagemakersEM SimsKB BreakefieldXO WieringaB RopersHH(1989):Physical fine mapping of a deletion spanning the Norrie gene. In Preparation.","DOI":"10.1007\/BF00210665"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.73"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00221.x"},{"key":"e_1_2_1_12_1","first-page":"633","article-title":"Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract) Eighth International Workshop on Human Gene Mapping","volume":"40","author":"Gal A","year":"1985","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132282"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132178"},{"key":"e_1_2_1_15_1","first-page":"166","article-title":"The use of a DNA marker for carrier diagnosis in an X\u2010linked disorder\u2014Norrie disease","volume":"100","author":"Hill DF","year":"1987","journal-title":"NZ Med J"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260329"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1245"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/322073a0"},{"key":"e_1_2_1_19_1","first-page":"1359","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_20_1","unstructured":"MitchellGA LooneyJE BrodyLC SteelG SuchanekM EngelhardtJF WillardHF ValleD(1989):Human ornithine\u2010\u03b1 aminotransferase\u2014cDNA cloning and analysis of the structural gene. J Biol Chem In Press."},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02614.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.70.1.64"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.3109\/00206097809101299"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_25_1","first-page":"1","article-title":"Norrie's disease","volume":"89","author":"Warburg M","year":"1966","journal-title":"Acta Ophthalmol [Suppl] (Copenh)"},{"key":"e_1_2_1_26_1","first-page":"117","volume-title":"Norrie's disease","author":"Warburg M","year":"1971"},{"key":"e_1_2_1_27_1","first-page":"265","article-title":"Toward a complete linkage map of the human X chromosome\u2014Regional assignment of 16 cloned single\u2010copy DNA sequences employing a panel of somatic cell hybrids","volume":"36","author":"Wieacker P","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_28_1","first-page":"609","article-title":"High resolution regional mapping of the human X chromosome by radiation induced segregation analysis of X\u2010linked DNA probes","volume":"37","author":"Willard HF","year":"1983","journal-title":"Cytogenet Cell Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320330415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320330415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T22:10:49Z","timestamp":1695766249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320330415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,8]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1989,8]]}},"alternative-id":["10.1002\/ajmg.1320330415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320330415","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,8]]}}}