{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T16:43:36Z","timestamp":1754153016180,"version":"3.41.2"},"reference-count":77,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives of Medical Research"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.arcmed.2025.103209","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T18:18:05Z","timestamp":1744654685000},"page":"103209","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Founder Variants in the Mexican Population: A Systematic Review"],"prefix":"10.1016","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6496-8892","authenticated-orcid":false,"given":"Sylvia","family":"Harari-Arakindji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Metta-Harari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Espino-Guti\u00e9rrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9592-8527","authenticated-orcid":false,"given":"Lucia","family":"Taja-Chayeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo","family":"Gonz\u00e1lez-Barrios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zyanya Lucia","family":"Zatarain-Barr\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Elias","family":"Garc\u00eda-Ortiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3207-6697","authenticated-orcid":false,"given":"Talia","family":"Wegman-Ostrosky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcmed.2025.103209_bib0001","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/sj.ejhg.5201151","article-title":"Founder mutations among the Dutch","volume":"12","author":"Zeegers","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0002","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1634\/theoncologist.2015-0416","article-title":"Founder and recurrent mutations in BRCA1 and BRCA2 genes in Latin American countries: state of the Art and Literature Review","volume":"21","author":"Ossa","year":"2016","journal-title":"Oncologist"},{"issue":"1 suppl 1","key":"10.1016\/j.arcmed.2025.103209_bib0003","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1590\/S1415-47572014000200009","article-title":"Prevalence and impact of founder mutations in hereditary breast cancer in Latin America","volume":"37","author":"Ashton-Prolla","year":"2014","journal-title":"Genet Mol Biol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0004","unstructured":"Old meets new: identifying founder mutations in genetic disease - PMC. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4312142\/. (Accessed September 1, 2024)."},{"key":"10.1016\/j.arcmed.2025.103209_bib0005","unstructured":"The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders | NPJ Genomic Medicine. Available from: https:\/\/www.nature.com\/articles\/s41525-021-00203-x. (Accessed September 1, 2024)."},{"key":"10.1016\/j.arcmed.2025.103209_bib0006","unstructured":"General information about Mexico. Available from: https:\/\/embamex.sre.gob.mx\/australia\/index.php\/en\/infomexieng. (Accessed September 1, 2024)."},{"key":"10.1016\/j.arcmed.2025.103209_bib0007","article-title":"Mexico's colonial and early postcolonial state-formation: a political-Marxist account","author":"Van Rankin-Anaya","year":"2023","journal-title":"Am\u00e9rica Lat En Hist Econ\u00f3mica"},{"key":"10.1016\/j.arcmed.2025.103209_bib0008","unstructured":"Population structure and paternal admixture landscape on present-day Mexican-Mestizos revealed by Y-STR haplotypes - PubMed. Available from: https:\/\/pubmed.ncbi.nlm.nih.gov\/19967759\/. (Accessed September 1, 2024)."},{"key":"10.1016\/j.arcmed.2025.103209_bib0009","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1126\/science.1251688","article-title":"The genetics of Mexico recapitulates Native American substructure and affects biomedical traits","volume":"344","author":"Moreno-Estrada","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.arcmed.2025.103209_bib0010","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.cell.2019.02.048","article-title":"The missing diversity in Human genetic studies","volume":"177","author":"Sirugo","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.arcmed.2025.103209_bib0011","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.arcmed.2025.103209_bib0012","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.arcmed.2025.103209_bib0013","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.exer.2013.02.006","article-title":"ABCA4 mutational spectrum in Mexican patients with Stargardt disease: identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation","volume":"109","author":"Chac\u00f3n-Camacho","year":"2013","journal-title":"Exp Eye Res"},{"year":"2024","series-title":"En: StatPearls","author":"Kohli","key":"10.1016\/j.arcmed.2025.103209_bib0014"},{"key":"10.1016\/j.arcmed.2025.103209_bib0015","first-page":"105","article-title":"Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation","volume":"24","author":"L\u00f3pez-Rubio","year":"2018","journal-title":"Mol Vis"},{"key":"10.1016\/j.arcmed.2025.103209_bib0016","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1094260","article-title":"Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico","volume":"14","author":"D\u00edaz-Vel\u00e1squez","year":"2023","journal-title":"Front Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0017","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0222709","article-title":"Mexican BRCA1 founder mutation: shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients","volume":"14","author":"Fragoso-Ontiveros","year":"2019","journal-title":"PLoS ONE"},{"key":"10.1016\/j.arcmed.2025.103209_bib0018","first-page":"1531","article-title":"A novel method to detect the Mexican founder mutation BRCA1 ex9-12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan\u00ae probes","volume":"18","author":"DA","year":"2018","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.arcmed.2025.103209_bib0019","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1158\/2767-9764.CRC-21-0099","article-title":"Influence of germline BRCA genotype on the survival of patients with triple-negative breast cancer","volume":"1","author":"Villarreal-Garza","year":"2021","journal-title":"Cancer Res Commun"},{"key":"10.1016\/j.arcmed.2025.103209_bib0020","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/cncr.29058","article-title":"Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico","volume":"121","author":"Villarreal-Garza","year":"2015","journal-title":"Cancer"},{"key":"10.1016\/j.arcmed.2025.103209_bib0021","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.863956","article-title":"Clinical benefits of Olaparib in Mexican ovarian cancer patients with founder mutation BRCA1-del ex9-12","volume":"13","author":"Gallardo-Rinc\u00f3n","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0022","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2022.949435","article-title":"Fanconi anemia and dyskeratosis congenita\/telomere biology disorders: two inherited bone marrow failure syndromes with genomic instability","volume":"12","author":"Fiesco-Roa","year":"2022","journal-title":"Front Oncol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0023","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.3390\/ijms23042334","article-title":"Fanconi anemia patients from an indigenous community in Mexico carry a new founder pathogenic variant in FANCG","volume":"23","author":"Reyes","year":"2022","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.arcmed.2025.103209_bib0024","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.nmd.2007.01.005","article-title":"A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex","volume":"17","author":"MacLeod","year":"2007","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.arcmed.2025.103209_bib0025","doi-asserted-by":"crossref","first-page":"e315","DOI":"10.1212\/NXG.0000000000000315","article-title":"Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G","volume":"5","author":"Lee","year":"2019","journal-title":"Neurol Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0026","article-title":"Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency","author":"Zhen","year":"2024","journal-title":"medRxiv"},{"key":"10.1016\/j.arcmed.2025.103209_bib0027","first-page":"328","article-title":"Severe congenital Neutropenia type 4: a rare disease harboring a G6pc3 gene pathogenic variant particular to the Mexican population","volume":"74","author":"L\u00f3pez-Rodr\u00edguez","year":"2022","journal-title":"Rev Investig Clin Organo Hosp Enfermedades Nutr"},{"key":"10.1016\/j.arcmed.2025.103209_bib0028","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.arcmed.2019.12.017","article-title":"LDLR gene mutation p.Asp360His and familial hypercholesterolemia in a Mexican community","volume":"51","author":"Hern\u00e1ndez Flores","year":"2020","journal-title":"Arch Med Res"},{"key":"10.1016\/j.arcmed.2025.103209_bib0029","doi-asserted-by":"crossref","DOI":"10.1016\/j.arcmed.2024.102971","article-title":"High prevalence of familial hypercholesterolemia due to the founder effect of the LDLR c.2271del variant in communities of Oaxaca, Mexico","volume":"55","author":"Rodr\u00edguez-Guti\u00e9rrez","year":"2024","journal-title":"Arch Med Res"},{"key":"10.1016\/j.arcmed.2025.103209_bib0030","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.arcmed.2005.04.018","article-title":"Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico","volume":"37","author":"Robles-Osorio","year":"2006","journal-title":"Arch Med Res"},{"key":"10.1016\/j.arcmed.2025.103209_bib0031","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1007\/s10815-021-02132-1","article-title":"The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread","volume":"38","author":"Aguinaga","year":"2021","journal-title":"J Assist Reprod Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0032","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/pd.4036","article-title":"The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss","volume":"33","author":"Estrada","year":"2013","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.arcmed.2025.103209_bib0033","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1002\/ajmg.c.31865","article-title":"Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: high frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients","volume":"184","author":"Dumois-Petersen","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0034","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s10048-006-0043-3","article-title":"Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families","volume":"7","author":"Yescas","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.arcmed.2025.103209_bib0035","first-page":"383","article-title":"Hereditary distal renal tubular acidosis: genotypic correlation, evolution to long term, and new therapeutic perspectives","volume":"41","author":"G\u00f3mez-Conde","year":"2021","journal-title":"Nefrol Engl Ed"},{"key":"10.1016\/j.arcmed.2025.103209_bib0036","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/mgg3.205","article-title":"Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families","volume":"4","author":"Escobar","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.arcmed.2025.103209_bib0037","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.jped.2015.02.002","article-title":"Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis","volume":"91","author":"Pereira","year":"2015","journal-title":"J Pediatr (Rio J)"},{"key":"10.1016\/j.arcmed.2025.103209_bib0038","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a005751","article-title":"Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation","volume":"7","author":"Sybouts","year":"2021","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"10.1016\/j.arcmed.2025.103209_bib0039","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/humu.20501","article-title":"Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry","volume":"28","author":"German","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.arcmed.2025.103209_bib0040","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.12659\/AJCR.905976","article-title":"Phenotypic variation in patients with homozygous c.1678G>T mutation in EVC gene: report of two Mexican families with Ellis-van Creveld Syndrome","volume":"18","author":"Ibarra-Ramirez","year":"2017","journal-title":"Am J Case Rep"},{"key":"10.1016\/j.arcmed.2025.103209_bib0041","first-page":"95","article-title":"A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease","volume":"32","author":"Esmer","year":"2013","journal-title":"Acta Myol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0042","article-title":"Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico","volume":"21","author":"Campos-Garc\u00eda","year":"2019","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.arcmed.2025.103209_bib0043","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","article-title":"Mutations in the gene encoding KRIT1, a krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1)","volume":"8","author":"Sahoo","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0044","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1212\/WNL.48.3.752","article-title":"Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent","volume":"48","author":"Polymeropoulos","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.arcmed.2025.103209_bib0045","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","article-title":"Mutations in the gene encoding KRIT1, a krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1)","volume":"8","author":"Sahoo","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0046","doi-asserted-by":"crossref","first-page":"dgz276","DOI":"10.1210\/clinem\/dgz276","article-title":"The melanocortin 4 receptor p.Ile269Asn mutation is associated with childhood and adult obesity in Mexicans","volume":"105","author":"V\u00e1zquez-Moreno","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.arcmed.2025.103209_bib0047","first-page":"318","article-title":"PAX6 gene intragenic deletions in Mexican patients with congenital aniridia","volume":"12","author":"Ramirez-Miranda","year":"2006","journal-title":"Mol Vis"},{"key":"10.1016\/j.arcmed.2025.103209_bib0048","doi-asserted-by":"crossref","first-page":"358","DOI":"10.2164\/jandrol.109.009407","article-title":"Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients","volume":"31","author":"Vilchis","year":"2010","journal-title":"J Androl"},{"key":"10.1016\/j.arcmed.2025.103209_bib0049","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1111\/ijd.14952","article-title":"High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect","volume":"59","author":"Gonz\u00e1lez-Del Carmen","year":"2020","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0050","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1442-9071.2010.02241.x","article-title":"Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico","volume":"38","author":"Chacon-Camacho","year":"2010","journal-title":"Clin Experiment Ophthalmol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0051","doi-asserted-by":"crossref","first-page":"389","DOI":"10.3171\/jns.2006.104.3.389","article-title":"Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma","volume":"104","author":"Rasmussen","year":"2006","journal-title":"J Neurosurg"},{"key":"10.1016\/j.arcmed.2025.103209_bib0052","doi-asserted-by":"crossref","first-page":"e31855","DOI":"10.1016\/j.heliyon.2024.e31855","article-title":"Lynch syndrome in Mexican-Mestizo families: genotype, phenotypes, and challenges in cascade testing among relatives at risk","volume":"10","author":"Rivero-Garc\u00eda","year":"2024","journal-title":"Heliyon"},{"key":"10.1016\/j.arcmed.2025.103209_bib0053","doi-asserted-by":"crossref","first-page":"2829","DOI":"10.1002\/cncr.32083","article-title":"Pathogenic and likely pathogenic variants in PALB2, CHEK2 and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer","volume":"125","author":"Weitzel","year":"2019","journal-title":"Cancer"},{"key":"10.1016\/j.arcmed.2025.103209_bib0054","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s10549-016-3981-y","article-title":"Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer predisposing gene PALB2","volume":"160","author":"Catucci","year":"2016","journal-title":"Breast Cancer Res Treat"},{"key":"10.1016\/j.arcmed.2025.103209_bib0055","first-page":"57","article-title":"A variant in GRN of Spanish origin presenting with heterogeneous phenotypes","volume":"40","author":"Men\u00e9ndez-Gonz\u00e1lez","year":"2022","journal-title":"Neurology"},{"key":"10.1016\/j.arcmed.2025.103209_bib0056","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/ana.10505","article-title":"CMT4A: identification of a Hispanic GDAP1 founder mutation","volume":"53","author":"Boerkoel","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0057","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3390\/genes14020341","article-title":"Identification of germline variants in patients with hereditary cancer syndromes in Northeast Mexico","volume":"14","author":"P\u00e9rez-Ibave","year":"2023","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.arcmed.2025.103209_bib0058","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.tranon.2019.11.003","article-title":"Clinical evaluation of BRCA1\/2 mutation in Mexican ovarian cancer patients","volume":"13","author":"Gallardo-Rinc\u00f3n","year":"2020","journal-title":"Transl Oncol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0059","doi-asserted-by":"crossref","first-page":"361","DOI":"10.3390\/cancers10100361","article-title":"Comprehensive analysis of germline variants in Mexican patients with hereditary breast and ovarian cancer susceptibility","volume":"10","author":"Quezada Urban","year":"2018","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.arcmed.2025.103209_bib0060","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s10549-015-3312-8","article-title":"The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer","volume":"150","author":"Villarreal-Garza","year":"2015","journal-title":"Breast Cancer Res Treat"},{"key":"10.1016\/j.arcmed.2025.103209_bib0061","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s10048-006-0053-1","article-title":"The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families","volume":"7","author":"Murrell","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.arcmed.2025.103209_bib0062","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s10048-006-0043-3","article-title":"Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families","volume":"7","author":"Yescas","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.arcmed.2025.103209_bib0063","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1056\/NEJM199604113341503","article-title":"A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans","volume":"334","author":"Gunel","year":"1996","journal-title":"N Engl J Med"},{"key":"10.1016\/j.arcmed.2025.103209_bib0064","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/j.1399-0004.2008.00965.x","article-title":"Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa","volume":"73","author":"Chang","year":"2008","journal-title":"Clin Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0065","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/IJG.0b013e31815678c3","article-title":"Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico","volume":"17","author":"Zenteno","year":"2008","journal-title":"J Glaucoma"},{"key":"10.1016\/j.arcmed.2025.103209_bib0066","doi-asserted-by":"crossref","first-page":"e710","DOI":"10.1002\/mgg3.710","article-title":"FANCC Dutch founder mutation in a Mennonite family from Tamaulipas","volume":"7","author":"Garc\u00eda-de Teresa","year":"2019","journal-title":"M\u00e9xico. Mol Genet Genomic Med"},{"key":"10.1016\/j.arcmed.2025.103209_bib0067","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1055\/s-0038-1649957","article-title":"Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects","volume":"74","author":"Thorland","year":"1995","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.arcmed.2025.103209_bib0068","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1136\/bjo.2007.131482","article-title":"Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects","volume":"92","author":"Rivera","year":"2008","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.arcmed.2025.103209_bib0069","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/cge.12444","article-title":"Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect","volume":"88","author":"Vela-Amieva","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0070","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/cge.12400","article-title":"Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration","volume":"87","author":"Morales-Brice\u00f1o","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.arcmed.2025.103209_bib0071","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10048-013-0387-4","article-title":"Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families","volume":"15","author":"Garc\u00eda-Vel\u00e1zquez","year":"2014","journal-title":"Neurogenetics"},{"key":"10.1016\/j.arcmed.2025.103209_bib0072","first-page":"31","article-title":"USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients","volume":"29","author":"Ordo\u00f1ez-Labastida","year":"2023","journal-title":"Mol Vis"},{"key":"10.1016\/j.arcmed.2025.103209_bib0073","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1158\/1055-9965.EPI-05-0072","article-title":"Prevalence of BRCA mutations and founder effect in high-risk Hispanic families","volume":"14","author":"Weitzel","year":"2005","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.arcmed.2025.103209_bib0074","first-page":"1445","article-title":"Effect of the complex allele p.[Ile148Thr;Ile1023_Val1024del] in cystic fibrosis and tracing of a founder Effect in Mexican families","volume":"14","author":"NG","year":"2024","journal-title":"Life (Basel)"},{"key":"10.1016\/j.arcmed.2025.103209_bib0075","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.nmd.2017.09.004","article-title":"Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution","volume":"27","author":"Murillo-Melo","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.arcmed.2025.103209_bib0076","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0170280","article-title":"Epidemiological and molecular characterization of a Mexican population isolate with high prevalence of limb-girdle muscular dystrophy type 2A due to a novel calpain-3 mutation","volume":"12","author":"Pantoja-Melendez","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.arcmed.2025.103209_bib0077","first-page":"1162","article-title":"Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma","volume":"16","author":"Ali","year":"2010","journal-title":"Mol Vis"}],"container-title":["Archives of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0188440925000293?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0188440925000293?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T14:20:41Z","timestamp":1753194041000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0188440925000293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":77,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["S0188440925000293"],"URL":"https:\/\/doi.org\/10.1016\/j.arcmed.2025.103209","relation":{},"ISSN":["0188-4409"],"issn-type":[{"type":"print","value":"0188-4409"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Founder Variants in the Mexican Population: A Systematic Review","name":"articletitle","label":"Article Title"},{"value":"Archives of Medical Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.arcmed.2025.103209","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Instituto Mexicano del Seguro Social (IMSS). Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"103209"}}