{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T13:10:04Z","timestamp":1695906604172},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":4893,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Various theories have been postulated to account for the unusual inheritance pattern observed in the fragile X syndrome. The recent finding of a secondary amplification of the fragile X mutation in the offspring of carrier females [Oberle et al., 1991; Yu et al., 1991] is consistent with a maternal imprinting process. Laird [1987] has proposed that the fragile X mutation blocks complete reactivation of a previously inactivated fragile X chromosome. We have tested whether or not such a localized block extends as far distal as the red\/green color\u2010vision complex at Xq28. We found no evidence of color\u2010vision defects among 25 male subjects with the fragile X syndrome. A fragile X positive woman also had normal color vision, despite being an obligate carrier of her father's gene for red\/green color blindness. We conclude that the fragile X gene does not affect the function of neighboring colorvision genes, nor does it affect their ability to compensate adequately for inherited color deficiency on the homologous X chromosome in females.<\/jats:p>","DOI":"10.1002\/ajmg.1320420210","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T19:19:33Z","timestamp":1123528773000},"page":"184-186","source":"Crossref","is-referenced-by-count":1,"title":["Study of color vision in fragile X syndrome"],"prefix":"10.1002","volume":"42","author":[{"given":"Brenda M.","family":"Finucane","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Jaeger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Charles I.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"405","article-title":"Strengths and weaknesses in the cognitive profile of fra(X) patients","volume":"36","author":"Curfs L","year":"1989","journal-title":"Clin Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350107"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330422"},{"key":"e_1_2_1_5_1","volume-title":"AO H\u2010R\u2010R Pseudoisochromatic Plates","author":"Hardy L","year":"1957"},{"key":"e_1_2_1_6_1","volume-title":"Ishihara's Tests for Colour\u2010Blindness","author":"Ishihara S","year":"1980"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230109"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1093\/genetics\/117.3.587","article-title":"Proposed mechanism of inheritance and expression of the human fragile\u2010X syndrome of mental retardation","volume":"117","author":"Laird C","year":"1987","journal-title":"Genetics"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1097"},{"key":"e_1_2_1_10_1","first-page":"738","article-title":"Fragile\u2010X mutation: Evidence in favor of an X inactivation\u2010dependent effect","volume":"46","author":"Rocchi M","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"587","article-title":"Evidence for close association between the fragile X (q27\u201328) chromosome site and glucose\u20106\u2010phosphate\u2010dehydrogenase (G6PD) but not with hypoxanthine\u2010guanine phosphoribosyl transferase (HPRT)","volume":"37","author":"Snyder F","year":"1984","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198009183031202"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1038\/349624a0","article-title":"Abnormal pattern detected in fragile\u2010X patients by pulsed\u2010field gel electrophoresis","volume":"349","author":"Vincent A","journal-title":"Nature"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.10.627"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1179"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T01:51:31Z","timestamp":1695865891000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1,15]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,1,15]]}},"alternative-id":["10.1002\/ajmg.1320420210"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420210","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1,15]]}}}