{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T19:34:07Z","timestamp":1726256047239},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,1,22]],"date-time":"2004-01-22T00:00:00Z","timestamp":1074729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5\u2032 UTR region of the gene <jats:italic>FMR\u20101<\/jats:italic>. Four types of alleles can be identified in the population, based on the number of repeats: normal (6\u201340), gray\u2010zone (41\u201360), premutated (61\u2013200), and fully mutated (&gt;200). Despite only full mutations being associated with the development of the disorder, some authors propose a correlation between FRAXA premutation and the occurrence of premature ovarian failure (POF). We have undertaken a study in 58 women from 24 fragile X syndrome families ascertained for FRAXA testing. Using Southern blotting for direct DNA analysis we have identified 19 normal, 33 premutation carriers, and 6 fully mutated individuals (including 4 somatic mosaics showing premutated and fully mutated alleles). Among the premutated women, 11 experienced menopause before the age of 40 (POF), including one somatic mosaic, which was different from the ones with normal pattern who did not experience POF. Our data corroborate the notion that females carrying alleles in the premutation range are at high risk of experiencing POF. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20585","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T08:07:05Z","timestamp":1080288425000},"page":"237-240","source":"Crossref","is-referenced-by-count":11,"title":["Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey"],"prefix":"10.1002","volume":"126A","author":[{"given":"Maria do Carmo","family":"Machado\u2010Ferreira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo A.","family":"Costa\u2010Lima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel T.","family":"Boy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela S.","family":"Esteves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rcia M.G.","family":"Pimentel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,1,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B","article-title":"Fragile X premutation is a significant risk factor for premature ovarian failure\u2014The International Collaborative POF in Fragile X Study\u2014Preliminary data","volume":"83","author":"Allingham\u2010Hawkins DJ","year":"1999","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<327::AID-AJMG19>3.0.CO;2-R"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92194-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/13.5.1184"},{"key":"e_1_2_6_6_1","first-page":"604","article-title":"Incidence of premature ovarian failure","volume":"67","author":"Coulam CB","year":"1986","journal-title":"Obstet Gynecol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380221"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/6.4.314"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<283::AID-AJMG10>3.0.CO;2-B"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<221::AID-AJMG1>3.0.CO;2-K"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/16.3.457"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<404::AID-AJMG34>3.0.CO;2-H"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.1.197"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.637"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.767"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1097"},{"key":"e_1_2_6_19_1","unstructured":"OMIM.2001.Online Mendelian Inheritance in Man. 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