{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:35:35Z","timestamp":1779255335390,"version":"3.51.4"},"reference-count":34,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>\n                    Dynamic mutations in the 5\u2032 untranslated region of\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian reserves remains unclear. We evaluated the effect of\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    CGG repeat lengths on ovarian reserves and\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    fertilization (IVF) treatment outcomes in 272 women with alleles within the normal range.\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    CGG repeat length was investigated via PCR and capillary electrophoresis. Alleles were classified as low-normal, normal, and high-normal. Serum levels of follicle-stimulating hormone and anti-Mullerian hormone (AMH) in the follicular phase of the menstrual cycle were measured, and antral follicles (AFC) were counted. IVF outcomes were collected from medical records. Regarding\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    CGG repeat length alleles, 63.2% of women presented at least one low-normal allele. Those carrying low-normal alleles had significantly lower AMH levels than women carrying normal or high-normal alleles. Low-normal\/low-normal genotype was the most frequent, followed by low-normal\/normal and normal\/normal. A comparison of ovarian reserve markers and reproductive outcomes of the three most frequent genotypes revealed that AFC in the low-normal\/normal genotype was significantly lower than the low-normal\/low-normal genotype. The low number of\n                    <jats:italic toggle=\"yes\">FMR1<\/jats:italic>\n                    CGG repeats affected AMH levels and AFC but not IVF outcomes per cycle of treatment.\n                  <\/jats:p>","DOI":"10.1089\/dna.2023.0395","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T11:03:29Z","timestamp":1718708609000},"page":"414-424","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Low and High-Normal\n                    <i>FMR1<\/i>\n                    Triplet Cytosine, Guanine Guanine Repeats Affect Ovarian Reserve and Fertility in Women Who Underwent\n                    <i>In Vitro<\/i>\n                    Fertilization Treatment? Results from a Cross-Sectional Study"],"prefix":"10.1177","volume":"43","author":[{"given":"Ana Carolina Vasconcelos","family":"Nunes","sequence":"first","affiliation":[{"name":"Postgraduation Program in Health Sciences, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2125-5566","authenticated-orcid":false,"given":"Camila Martins","family":"Trevisan","sequence":"additional","affiliation":[{"name":"Postgraduation Program in Health Sciences, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Peluso","sequence":"additional","affiliation":[{"name":"Discipline of Sexual and Reproductive Health, and Population Genetics, Department of Public Health, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia Althman","family":"Loureiro","sequence":"additional","affiliation":[{"name":"Discipline of Sexual and Reproductive Health, and Population Genetics, Department of Public Health, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre Torchio","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Scientific Advice, CITOGEM Biotecnologia, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Rincon","sequence":"additional","affiliation":[{"name":"Department of Scientific Advice, CITOGEM Biotecnologia, S\u00e3o Paulo, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando Luiz Affonso","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Discipline of Clinical Analysis, Department of Pathology, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise Maria","family":"Christofolini","sequence":"additional","affiliation":[{"name":"Discipline of Sexual and Reproductive Health, and Population Genetics, Department of Public Health, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."},{"name":"Department of Human Reproduction and Genetics, Instituto Ideia F\u00e9rtil, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Simone","family":"Lagan\u00e0","sequence":"additional","affiliation":[{"name":"Unit of Obstetrics and Gynecology, Department of Health Promotion, Mother and Child Care, \u201cPaolo Giaccone\u201d Hospital, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, Palermo, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Montagna","sequence":"additional","affiliation":[{"name":"Postgraduation Program in Health Sciences, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caio Parente","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Discipline of Sexual and Reproductive Health, and Population Genetics, Department of Public Health, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."},{"name":"Discipline of Clinical Analysis, Department of Pathology, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8669-3562","authenticated-orcid":false,"given":"Bianca","family":"Bianco","sequence":"additional","affiliation":[{"name":"Discipline of Sexual and Reproductive Health, and Population Genetics, Department of Public Health, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, Brazil."},{"name":"Discipline of Clinical Analysis, Department of Pathology, Faculdade de Medicina do ABC\/Centro Universit\u00e1rio FMABC, Santo Andr\u00e9, 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