{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:18:27Z","timestamp":1783358307981,"version":"3.54.6"},"reference-count":48,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_med-2026-1408_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Genetic counseling remains challenging for carriers of chromosomal inversions due to variable reproductive outcomes. This study aims to characterize the clinical features of three male carriers with chromosome 2 inversion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_med-2026-1408_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>All participants underwent comprehensive assessment, including karyotype analysis and semen examination. Relevant cases were retrieved via PubMed, and candidate genes at chromosome 2 breakpoints were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_med-2026-1408_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>xCytogenetic analysis identified three karyotypes: 46,XY,inv(2)(p15q13), 46,XY,inv(2)(p13q11), and 46,XY,inv(2)(p11.2q13). A total of 22 previously reported cases were included for comparative analysis. inv(2)(p11q13) and inv(2)(p11.2q13) were the most prevalent karyotypes. Breakpoints at 2p11, 2p11.2, and 2q13 appeared to have minimal impact on spermatogenesis, while breakpoints at 2p13 and 2q11 may impair spermatogenesis by disrupting the structure and function of relevant genes located at 2p23, 2p13, 2q11, and\u00a02q33.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_med-2026-1408_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Detailed characterization of inversion breakpoints is essential for providing precise genetic counseling to carriers of chromosome 2 inversion.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/med-2026-1408","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:56:36Z","timestamp":1783356996000},"source":"Crossref","is-referenced-by-count":0,"title":["Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review"],"prefix":"10.1515","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5589-0843","authenticated-orcid":false,"given":"Wenjie","family":"Tian","sequence":"first","affiliation":[{"name":"Department of Urology , The Second Hospital of Jilin University , Changchun , Jilin , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology , The Second Hospital of Jilin University , Changchun , Jilin , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Urology , The Second Hospital of Jilin University , Changchun , Jilin , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,7,6]]},"reference":[{"key":"2026070617004858837_j_med-2026-1408_ref_001","doi-asserted-by":"crossref","unstructured":"Batiha, O, Burghel, GJ, Alkofahi, A, Alsharu, E, Smith, H, Alobaidi, B, et al.. Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males. Hum Fertil 2022;25:939\u201346. https:\/\/doi.org\/10.1080\/14647273.2021.1946173.","DOI":"10.1080\/14647273.2021.1946173"},{"key":"2026070617004858837_j_med-2026-1408_ref_002","doi-asserted-by":"crossref","unstructured":"Akalin, H, Sahin, IO, Paskal, SA, Tan, B, Yalcinkaya, E, Demir, M, et al.. Evaluation of chromosomal abnormalities in the postnatal cohort: a single-center study on 14,242 patients. J\u00a0Clin Lab Anal 2024;38:e24997. https:\/\/doi.org\/10.1002\/jcla.24997.","DOI":"10.1002\/jcla.24997"},{"key":"2026070617004858837_j_med-2026-1408_ref_003","doi-asserted-by":"crossref","unstructured":"And\u00f3, S, Koczok, K, Bessenyei, B, Balogh, I, Ujfalusi, A. Cytogenetic investigation of infertile patients in Hungary: a 10-year retrospective study. Genes 2022;13:2086. https:\/\/doi.org\/10.3390\/genes13112086.","DOI":"10.3390\/genes13112086"},{"key":"2026070617004858837_j_med-2026-1408_ref_004","doi-asserted-by":"crossref","unstructured":"Fan, H, Liu, Z, Zhan, P, Jia, G. Pericentric inversion of chromosome 6 and male fertility problems. Open Med 2022;17:191\u20136. https:\/\/doi.org\/10.1515\/med-2022-0411.","DOI":"10.1515\/med-2022-0411"},{"key":"2026070617004858837_j_med-2026-1408_ref_005","doi-asserted-by":"crossref","unstructured":"Shetty, S, Nair, J, Johnson, J, Shetty, N, J, AK, Thondehalmath, N, et al.. Preimplantation genetic testing for couples with balanced chromosomal rearrangements. J\u00a0Reprod Infertil 2022;23:213\u201323. https:\/\/doi.org\/10.18502\/jri.v23i3.10013.","DOI":"10.18502\/jri.v23i3.10013"},{"key":"2026070617004858837_j_med-2026-1408_ref_006","doi-asserted-by":"crossref","unstructured":"Xie, P, Hu, L, Tan, Y, Gong, F, Zhang, S, Xiong, B, et al.. Retrospective analysis of meiotic segregation pattern and interchromosomal effects in blastocysts from inversion preimplantation genetic testing cycles. Fertil Steril 2019;112:336\u201342.e3. https:\/\/doi.org\/10.1016\/j.fertnstert.2019.03.041.","DOI":"10.1016\/j.fertnstert.2019.03.041"},{"key":"2026070617004858837_j_med-2026-1408_ref_007","doi-asserted-by":"crossref","unstructured":"Shao, Y, Li, J, Lu, J, Li, H, Zhu, Y, Jiang, W, et al.. Clinical outcomes of preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population. Reprod Biol Endocrinol 2020;18:79. https:\/\/doi.org\/10.1186\/s12958-020-00635-7.","DOI":"10.1186\/s12958-020-00635-7"},{"key":"2026070617004858837_j_med-2026-1408_ref_008","doi-asserted-by":"crossref","unstructured":"Tong, J, Jiang, J, Niu, Y, Zhang, T. Do chromosomal inversion carriers really need preimplantation genetic testing? J\u00a0Assist Reprod Genet 2022;39:2573\u20139. https:\/\/doi.org\/10.1007\/s10815-022-02654-2.","DOI":"10.1007\/s10815-022-02654-2"},{"key":"2026070617004858837_j_med-2026-1408_ref_009","doi-asserted-by":"crossref","unstructured":"Li, R, Fan, H, Zhang, Q, Yang, X, Zhan, P, Feng, S. Pericentric inversion in chromosome 1 and male infertility. Open Med 2020;15:343\u20138. https:\/\/doi.org\/10.1515\/med-2020-0404.","DOI":"10.1515\/med-2020-0404"},{"key":"2026070617004858837_j_med-2026-1408_ref_010","doi-asserted-by":"crossref","unstructured":"Zhang, X, Shi, Q, Liu, Y, Jiang, Y, Yang, X, Liu, R, et al.. Fertility problems in males carrying an inversion of chromosome 10. Open Med 2021;16:316\u201321. https:\/\/doi.org\/10.1515\/med-2021-0240.","DOI":"10.1515\/med-2021-0240"},{"key":"2026070617004858837_j_med-2026-1408_ref_011","doi-asserted-by":"crossref","unstructured":"Mottola, F, Santonastaso, M, Ronga, V, Finelli, R, Rocco, L. Polymorphic rearrangements of human chromosome 9 and male infertility: new evidence and impact on spermatogenesis. Biomolecules 2023;13:729. https:\/\/doi.org\/10.3390\/biom13050729.","DOI":"10.3390\/biom13050729"},{"key":"2026070617004858837_j_med-2026-1408_ref_012","doi-asserted-by":"crossref","unstructured":"Xie, X, Li, F, Tan, W, Tang, J. Analysis of the clinical features of pericentric inversion of chromosome 9. J\u00a0Int Med Res 2020;48:300060520957820. https:\/\/doi.org\/10.1177\/0300060520957820.","DOI":"10.1177\/0300060520957820"},{"key":"2026070617004858837_j_med-2026-1408_ref_013","unstructured":"World Health Organization. WHO laboratory manual for the examination and processing of human semen, 6th ed. Geneva, Switzerland: WHO Press; 2021:12\u201364 pp."},{"key":"2026070617004858837_j_med-2026-1408_ref_014","doi-asserted-by":"crossref","unstructured":"Morel, F, Laudier, B, Gu\u00e9rif, F, Couet, ML, Roy\u00e8re, D, Roux, C, et al.. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 2007;22:136\u201341. https:\/\/doi.org\/10.1093\/humrep\/del317.","DOI":"10.1093\/humrep\/del317"},{"key":"2026070617004858837_j_med-2026-1408_ref_015","unstructured":"Portno\u00ef, MF, Joye, N, van den Akker, J, Morlier, G, Taillemite, JL. Karyotypes of 1142 couples with recurrent abortion. Obstet Gynecol 1988;72:31\u20134."},{"key":"2026070617004858837_j_med-2026-1408_ref_016","doi-asserted-by":"crossref","unstructured":"Testart, J, Gautier, E, Brami, C, Rolet, F, Sedbon, E, Thebault, A. Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum Reprod 1996;11:2609\u201312. https:\/\/doi.org\/10.1093\/oxfordjournals.humrep.a019179.","DOI":"10.1093\/oxfordjournals.humrep.a019179"},{"key":"2026070617004858837_j_med-2026-1408_ref_017","unstructured":"Srebniak, M, Wawrzkiewicz, A, Wiczkowski, A, Ka\u017amierczak, W, Olejek, A. Subfertile couple with inv(2), inv(9) and 16qh+. J\u00a0Appl Genet 2004;45:477\u20139."},{"key":"2026070617004858837_j_med-2026-1408_ref_018","doi-asserted-by":"crossref","unstructured":"Ferfouri, F, Clement, P, Gomes, DM, Minz, M, Amar, E, Selva, J, et al.. Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes? Fertil Steril 2009;92:1497. e1-.e4. https:\/\/doi.org\/10.1016\/j.fertnstert.2009.06.047.","DOI":"10.1016\/j.fertnstert.2009.06.047"},{"key":"2026070617004858837_j_med-2026-1408_ref_019","doi-asserted-by":"crossref","unstructured":"Djalali, M, Steinbach, P, Bullerdiek, J, Holmes-Siedle, M, Verschraegen-Spae, MR, Smith, A. The significance of pericentric inversions of chromosome 2. Hum Genet 1986;72:32\u20136. https:\/\/doi.org\/10.1007\/bf00278814.","DOI":"10.1007\/BF00278814"},{"key":"2026070617004858837_j_med-2026-1408_ref_020","doi-asserted-by":"crossref","unstructured":"Baccichetti, C, Lenzini, E, Peserico, A, Tenconi, R. Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2. Clin Genet 1980;18:402\u20137. https:\/\/doi.org\/10.1111\/j.1399-0004.1980.tb01783.x.","DOI":"10.1111\/j.1399-0004.1980.tb01783.x"},{"key":"2026070617004858837_j_med-2026-1408_ref_021","doi-asserted-by":"crossref","unstructured":"Goddijn, M, Joosten, JH, Knegt, AC, van derVeen, F, Franssen, MT, Bonsel, GJ, et al.. Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod 2004;19:1013\u20137. https:\/\/doi.org\/10.1093\/humrep\/deh172.","DOI":"10.1093\/humrep\/deh172"},{"key":"2026070617004858837_j_med-2026-1408_ref_022","doi-asserted-by":"crossref","unstructured":"Perrin, A, Caer, E, Oliver-Bonet, M, Navarro, J, Benet, J, Amice, V, et al.. DNA fragmentation and meiotic segregation in sperm of carriers of a chromosomal structural abnormality. Fertil Steril 2009;92:583\u20139. https:\/\/doi.org\/10.1016\/j.fertnstert.2008.06.052.","DOI":"10.1016\/j.fertnstert.2008.06.052"},{"key":"2026070617004858837_j_med-2026-1408_ref_023","doi-asserted-by":"crossref","unstructured":"Dul, EC, van Echten-Arends, J, Groen, H, Dijkhuizen, T, Land, JA, van Ravenswaaij-Arts, CM. Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes. Hum Reprod 2012;27:2850\u20136. https:\/\/doi.org\/10.1093\/humrep\/des222.","DOI":"10.1093\/humrep\/des222"},{"key":"2026070617004858837_j_med-2026-1408_ref_024","doi-asserted-by":"crossref","unstructured":"Ramos, L, Daina, G, Del Rey, J, Ribas-Maynou, J, Fern\u00e1ndez-Encinas, A, Martinez-Passarell, O, et al.. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements. Fertil Steril 2015;104:681\u20137.e2. https:\/\/doi.org\/10.1016\/j.fertnstert.2015.05.033.","DOI":"10.1016\/j.fertnstert.2015.05.033"},{"key":"2026070617004858837_j_med-2026-1408_ref_025","doi-asserted-by":"crossref","unstructured":"Lacbawan, FL, White, BJ, Anguiano, A, Rigdon, DT, Ball, KD, Bromage, GB, et al.. Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin. Am J Med Genet 1999;87:139\u201342. https:\/\/doi.org\/10.1002\/(sici)1096-8628(19991119)87:2<139::aid-ajmg5>3.0.co;2-j.","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<139::AID-AJMG5>3.3.CO;2-A"},{"key":"2026070617004858837_j_med-2026-1408_ref_026","doi-asserted-by":"crossref","unstructured":"Anton, E, Vidal, F, Egozcue, J, Blanco, J. Genetic reproductive risk in inversion carriers. Fertil Steril 2006;85:661\u20136. https:\/\/doi.org\/10.1016\/j.fertnstert.2005.09.023.","DOI":"10.1016\/j.fertnstert.2005.09.023"},{"key":"2026070617004858837_j_med-2026-1408_ref_027","doi-asserted-by":"crossref","unstructured":"Fickelscher, I, Liehr, T, Watts, K, Bryant, V, Barber, JC, Heidemann, S, et al.. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet 2007;81:847\u201356. https:\/\/doi.org\/10.1086\/521226.","DOI":"10.1086\/521226"},{"key":"2026070617004858837_j_med-2026-1408_ref_028","doi-asserted-by":"crossref","unstructured":"Escudero, T, Lee, M, Stevens, J, Sandalinas, M, Munn\u00e9, S. Preimplantation genetic diagnosis of pericentric inversions. Prenat Diagn 2001;21:760\u20136. https:\/\/doi.org\/10.1002\/pd.171.","DOI":"10.1002\/pd.171"},{"key":"2026070617004858837_j_med-2026-1408_ref_029","doi-asserted-by":"crossref","unstructured":"Anton, E, Blanco, J, Egozcue, J, Vidal, F. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res 2005;111:297\u2013304. https:\/\/doi.org\/10.1159\/000086903.","DOI":"10.1159\/000086903"},{"key":"2026070617004858837_j_med-2026-1408_ref_030","doi-asserted-by":"crossref","unstructured":"Mikhaail-Philips, MM, Ko, E, Chernos, J, Greene, C, Rademaker, A, Martin, RH. Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect. Am J Med Genet A 2004;127A:139\u201343. https:\/\/doi.org\/10.1002\/ajmg.a.20693.","DOI":"10.1002\/ajmg.a.20693"},{"key":"2026070617004858837_j_med-2026-1408_ref_031","doi-asserted-by":"crossref","unstructured":"Fu, M, Chen, M, Guo, N, Lin, M, Li, Y, Huang, H, et al.. Molecular genetic analysis of 1,980 cases of male infertility. Exp Ther Med 2023;26:345. https:\/\/doi.org\/10.3892\/etm.2023.12044.","DOI":"10.3892\/etm.2023.12044"},{"key":"2026070617004858837_j_med-2026-1408_ref_032","doi-asserted-by":"crossref","unstructured":"Balasar, \u00d6, Zamani, AG, Balasar, M, Acar, H. Male infertility associated with de novo pericentric inversion of chromosome 1. Turk J Urol 2017;43:560\u20132. https:\/\/doi.org\/10.5152\/tud.2017.79346.","DOI":"10.5152\/tud.2017.79346"},{"key":"2026070617004858837_j_med-2026-1408_ref_033","doi-asserted-by":"crossref","unstructured":"Ghorbel, M, Baklouti-Gargouri, S, ElGhazel, H, Zribi, N, Ben Abdallah, F, Cherif, M, et al.. Pericentric inversion of chromosome 12 [inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man. Biochem Biophys Res Commun 2013;432:472\u20134. https:\/\/doi.org\/10.1016\/j.bbrc.2013.01.110.","DOI":"10.1016\/j.bbrc.2013.01.110"},{"key":"2026070617004858837_j_med-2026-1408_ref_034","doi-asserted-by":"crossref","unstructured":"Batanian, J, Hulten, MA. Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect. Hum Genet 1987;76:81\u20139. https:\/\/doi.org\/10.1007\/bf00283055.","DOI":"10.1007\/BF00283055"},{"key":"2026070617004858837_j_med-2026-1408_ref_035","doi-asserted-by":"crossref","unstructured":"Hajlaoui, A, Slimani, W, Kammoun, M, Sallem, A, Braham, S, Bibi, M, et al.. Sperm fluorescent in\u00a0situ hybridisation study of interchromosomal effect in six tunisian carriers of reciprocal and robertsonian translocations. Andrologia 2018;50:e12949. https:\/\/doi.org\/10.1111\/and.12949.","DOI":"10.1111\/and.12949"},{"key":"2026070617004858837_j_med-2026-1408_ref_036","unstructured":"Schinzel, AA, Adelsberger, PA, Binkert, F, Basaran, S, Antonarakis, SE. No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in down syndrome patients with concomitant familial chromosome rearrangements. Am J Hum Genet 1992;50:288\u201393."},{"key":"2026070617004858837_j_med-2026-1408_ref_037","doi-asserted-by":"crossref","unstructured":"Balasar, \u00d6, Acar, H. Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH. Turk J Urol 2020;46:178\u201385. https:\/\/doi.org\/10.5152\/tud.2020.19255.","DOI":"10.5152\/tud.2020.19255"},{"key":"2026070617004858837_j_med-2026-1408_ref_038","doi-asserted-by":"crossref","unstructured":"Ogur, C, Kahraman, S, Griffin, DK, Cinar Yapan, C, Tufekci, MA, Cetinkaya, M, et al.. PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely. Reprod Biomed Online 2023;46:713\u201327. https:\/\/doi.org\/10.1016\/j.rbmo.2022.07.016.","DOI":"10.1016\/j.rbmo.2022.07.016"},{"key":"2026070617004858837_j_med-2026-1408_ref_039","doi-asserted-by":"crossref","unstructured":"Young, D, Klepacka, D, McGarvey, M, Schoolcraft, WB, Katz-Jaffe, MG. Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect. J\u00a0Assist Reprod Genet 2019;36:509\u201316. https:\/\/doi.org\/10.1007\/s10815-018-1376-1.","DOI":"10.1007\/s10815-018-1376-1"},{"key":"2026070617004858837_j_med-2026-1408_ref_040","doi-asserted-by":"crossref","unstructured":"Aston, KI, Carrell, DT. Emerging evidence for the role of genomic instability in male factor infertility. Syst Biol Reprod Med 2012;58:71\u201380. https:\/\/doi.org\/10.3109\/19396368.2011.635751.","DOI":"10.3109\/19396368.2011.635751"},{"key":"2026070617004858837_j_med-2026-1408_ref_041","doi-asserted-by":"crossref","unstructured":"Perrin, A, Nguyen, MH, Bujan, L, Vialard, F, Amice, V, Gu\u00e9ganic, N, et al.. DNA fragmentation is higher in spermatozoa with chromosomally unbalanced content in men with a structural chromosomal rearrangement. Andrology 2013;1:632\u2013838. https:\/\/doi.org\/10.1111\/j.2047-2927.2013.00100.x.","DOI":"10.1111\/j.2047-2927.2013.00100.x"},{"key":"2026070617004858837_j_med-2026-1408_ref_042","doi-asserted-by":"crossref","unstructured":"Liehr, T, Kosayakova, N, Schr\u00f6der, J, Ziegler, M, Kreskowski, K, Pohle, B, et al.. Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements. Balkan J Med Genet 2011;14:13\u20136. https:\/\/doi.org\/10.2478\/v10034-011-0042-z.","DOI":"10.2478\/v10034-011-0042-z"},{"key":"2026070617004858837_j_med-2026-1408_ref_043","doi-asserted-by":"crossref","unstructured":"Zhang, J, He, X, Wu, H, Zhang, X, Yang, S, Liu, C, et al.. Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. Hum Mol Genet 2021;30:1996\u20132011. https:\/\/doi.org\/10.1093\/hmg\/ddab171.","DOI":"10.1093\/hmg\/ddab171"},{"key":"2026070617004858837_j_med-2026-1408_ref_044","doi-asserted-by":"crossref","unstructured":"Umer, N, Phadke, S, Shakeri, F, Ar\u00e9valo, L, Lohanadan, K, Kirfel, G, et al.. PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis. Development 2022;149:dev200499. https:\/\/doi.org\/10.1242\/dev.200499.","DOI":"10.1242\/dev.200499"},{"key":"2026070617004858837_j_med-2026-1408_ref_045","doi-asserted-by":"crossref","unstructured":"Wyrwoll, MJ, Temel, \u015eG, Nagirnaja, L, Oud, MS, Lopes, AM, van der Heijden, GW, et al.. Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to Male infertility. Am J Hum Genet 2020;107:342\u201351. https:\/\/doi.org\/10.1016\/j.ajhg.2020.06.010.","DOI":"10.1016\/j.ajhg.2020.06.010"},{"key":"2026070617004858837_j_med-2026-1408_ref_046","doi-asserted-by":"crossref","unstructured":"Kleiman, SE, Yogev, L, Gal-Yam, EN, Hauser, R, Gamzu, R, Botchan, A, et al.. Reduced human germ cell-less (HGCL) expression in azoospermic men with severe germinal cell impairment. J\u00a0Androl 2003;24:670\u20135. https:\/\/doi.org\/10.1002\/j.1939-4640.2003.tb02725.x.","DOI":"10.1002\/j.1939-4640.2003.tb02725.x"},{"key":"2026070617004858837_j_med-2026-1408_ref_047","doi-asserted-by":"crossref","unstructured":"Sha, YW, Sha, YK, Ji, ZY, Mei, LB, Ding, L, Zhang, Q, et al.. TSGA10 is a novel candidate gene associated with acephalic spermatozoa. Clin Genet 2018;93:776\u201383. https:\/\/doi.org\/10.1111\/cge.13140.","DOI":"10.1111\/cge.13140"},{"key":"2026070617004858837_j_med-2026-1408_ref_048","doi-asserted-by":"crossref","unstructured":"Oud, MS, Okutman, \u00d6, Hendricks, LAJ, de Vries, PF, Houston, BJ, Vissers, LELM, et al.. Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. Hum Reprod 2020;35:240\u201352. https:\/\/doi.org\/10.1093\/humrep\/dez246.","DOI":"10.1093\/humrep\/dez246"}],"container-title":["Open Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/med-2026-1408\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/med-2026-1408\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:02:04Z","timestamp":1783357324000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/med-2026-1408\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,1]]},"references-count":48,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,7,6]]},"published-print":{"date-parts":[[2026,1,23]]}},"alternative-id":["10.1515\/med-2026-1408"],"URL":"https:\/\/doi.org\/10.1515\/med-2026-1408","relation":{},"ISSN":["2391-5463"],"issn-type":[{"value":"2391-5463","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,1]]},"article-number":"20261408"}}