{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:21:24Z","timestamp":1770823284480,"version":"3.50.1"},"reference-count":6,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2008,5]]},"DOI":"10.2353\/jmoldx.2008.070163","type":"journal-article","created":{"date-parts":[[2008,4,11]],"date-time":"2008-04-11T01:38:33Z","timestamp":1207877913000},"page":"272-275","source":"Crossref","is-referenced-by-count":4,"title":["A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a \u201cPseudodeletion\u201d and Is Not Associated with the Fragile X Syndrome Phenotype"],"prefix":"10.1016","volume":"10","author":[{"given":"Massimiliano","family":"Cecconi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Cappellacci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Faravelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franca","family":"Dagna Bricarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Di Maria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Grasso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.2353\/jmoldx.2008.070163_bib1","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/0092-8674(91)90283-5","article-title":"Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox","volume":"67","author":"Fu","year":"1991","journal-title":"Cell"},{"key":"10.2353\/jmoldx.2008.070163_bib2","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1002\/ajmg.a.31291","article-title":"Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male","volume":"140","author":"Han","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.2353\/jmoldx.2008.070163_bib3","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1056\/NEJM199112123252401","article-title":"Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation","volume":"325","author":"Rousseau","year":"1991","journal-title":"N Engl J Med"},{"key":"10.2353\/jmoldx.2008.070163_bib4","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/S1525-1578(10)60627-7","article-title":"Novel polymorphism in the FMR1 gene resulting in a \u201cpseudodeletion\u201d of FMR1 in a commonly used fragile X assay","volume":"2","author":"Daly","year":"2000","journal-title":"J Mol Diagn"},{"key":"10.2353\/jmoldx.2008.070163_bib5","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1136\/jmg.39.3.196","article-title":"A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype","volume":"39","author":"Tarleton","year":"2002","journal-title":"J Med Genet"},{"key":"10.2353\/jmoldx.2008.070163_bib6","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1097\/01.GIM.0000182468.22666.dd","article-title":"Fragile X syndrome: diagnostic and carrier testing","volume":"7","author":"Sherman","year":"2005","journal-title":"Genet Med"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157810601602?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157810601602?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,30]],"date-time":"2018-12-30T10:55:52Z","timestamp":1546167352000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157810601602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,5]]}},"alternative-id":["S1525157810601602"],"URL":"https:\/\/doi.org\/10.2353\/jmoldx.2008.070163","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2008,5]]}}}