{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T19:25:38Z","timestamp":1788809138936,"version":"build-2803163510"},"reference-count":27,"publisher":"Scientific Scholar","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.4103\/ijmr.ijmr_649_20","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T14:00:10Z","timestamp":1640008810000},"page":"535-537","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["CFTR gene variants in Indian congenital bilateral absence of vas deferens & its relevance in genetic counselling"],"prefix":"10.25259","volume":"152","author":[{"given":"Ashutosh","family":"Halder","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","reference":[{"key":"R1-2-20241212","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s00018-016-2391-y","article-title":"Role of CFTR in epithelial physiology","volume":"74","author":"Saint-Criq","year":"2017","journal-title":"Cell Mol Life Sci"},{"key":"R2-2-20241212","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.jcf.2008.03.009","article-title":"Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice","volume":"7","author":"Castellani","year":"2008","journal-title":"J Cyst Fibros"},{"key":"R3-2-20241212","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/S2213-2600(12)70057-7","article-title":"A new era in the treatment of cystic fibrosis: Correction of the underlying CFTR defect","volume":"1","author":"Boyle","year":"2013","journal-title":"Lancet Respir Med"},{"key":"R4-2-20241212","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.jcf.2017.01.016","article-title":"Ethnicity impacts the cystic fibrosis diagnosis: A note of caution","volume":"16","author":"Bosch","year":"2017","journal-title":"J Cyst Fibros"},{"key":"R5-2-20241212","first-page":"39","article-title":"Cystic fibrosis in India: A systematic review","volume":"60","author":"Ashavaid","year":"2012","journal-title":"J Assoc Physicians India"},{"key":"R6-2-20241212","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1089\/gtmb.2011.0283","article-title":"Mutation analysis of the CFTR gene in 225 children: Identification of five novel severe and seven reported severe mutations","volume":"16","author":"Sachdeva","year":"2012","journal-title":"Genet Test Mol Biomarkers"},{"key":"R7-2-20241212","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1439-0272.2000.tb02859.x","article-title":"Clinical findings in congenital absence of the vasa deferentia","volume":"32","author":"Weiske","year":"2000","journal-title":"Andrologia"},{"key":"R8-2-20241212","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1056\/NEJM196807112790203","article-title":"Reproductive failure in males with cystic fibrosis","volume":"279","author":"Kaplan","year":"1968","journal-title":"N Engl J Med"},{"key":"R9-2-20241212","first-page":"272","article-title":"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients","volume":"56","author":"Mercier","year":"1995","journal-title":"Am J Hum Genet"},{"key":"R10-2-20241212","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s00439-020-02122-w","article-title":"Genetics of the congenital absence of the vas deferens","volume":"140","author":"Bieth","year":"2021","journal-title":"Hum Genet"},{"key":"R11-2-20241212","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1093\/humrep\/den500","article-title":"Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens","volume":"24","author":"Sharma","year":"2009","journal-title":"Hum Reprod"},{"key":"R12-2-20241212","doi-asserted-by":"crossref","first-page":"582","DOI":"10.2353\/jmoldx.2007.070040","article-title":"Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders","volume":"9","author":"Bareil","year":"2007","journal-title":"J Mol Diagn"},{"key":"R13-2-20241212","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1093\/humrep\/15.7.1476","article-title":"Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens","volume":"15","author":"Casals","year":"2000","journal-title":"Hum Reprod"},{"key":"R14-2-20241212","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1093\/humupd\/dms027","article-title":"Regulation of male fertility by CFTR and implications in male infertility","volume":"18","author":"Chen","year":"2012","journal-title":"Hum Reprod Update"},{"key":"R15-2-20241212","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1093\/humrep\/der377","article-title":"CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): A systemic review and meta-analysis","volume":"27","author":"Yu","year":"2012","journal-title":"Hum Reprod"},{"key":"R16-2-20241212","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1093\/oxfordjournals.humrep.a136164","article-title":"Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene","volume":"10","author":"Mickle","year":"1995","journal-title":"Hum Reprod"},{"key":"R17-2-20241212","doi-asserted-by":"crossref","first-page":"616","DOI":"10.4103\/0971-5916.187110","article-title":"Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & amp; renal anomalies","volume":"143","author":"Gajbhiye","year":"2016","journal-title":"Indian J Med Res"},{"key":"R18-2-20241212","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1111\/j.1439-0272.2012.01281.x","article-title":"Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia","volume":"44","author":"Schwarzer","year":"2012","journal-title":"Andrologia"},{"key":"R19-2-20241212","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/S0022-5347(01)66152-4","article-title":"Urogenital anomalies in men with congenital absence of the vas deferens","volume":"155","author":"Schlegel","year":"1996","journal-title":"J Urol"},{"key":"R20-2-20241212","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.ajhg.2016.06.012","article-title":"Truncating mutations in the adhesion G protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens","volume":"99","author":"Patat","year":"2016","journal-title":"Am J Hum Genet"},{"key":"R21-2-20241212","doi-asserted-by":"crossref","first-page":"16280","DOI":"10.1038\/s41598-018-34262-5","article-title":"X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family","volume":"8","author":"Khan","year":"2018","journal-title":"Sci Rep"},{"key":"R22-2-20241212","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1093\/humrep\/den413","article-title":"Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens","volume":"24","author":"Lee","year":"2009","journal-title":"Hum Reprod"},{"key":"R23-2-20241212","doi-asserted-by":"crossref","first-page":"e1006715","DOI":"10.1371\/journal.pgen.1006715","article-title":"Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice","volume":"13","author":"Wang","year":"2017","journal-title":"PLoS Genet"},{"key":"R24-2-20241212","doi-asserted-by":"crossref","first-page":"525","DOI":"10.4103\/aja.aja_112_18","article-title":"SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD)","volume":"21","author":"Shen","year":"2019","journal-title":"Asian J Androl"},{"key":"R25-2-20241212","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1056\/NEJM199012273232602","article-title":"Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm","volume":"323","author":"Silber","year":"1990","journal-title":"N Engl J Med"},{"key":"R26-2-20241212","doi-asserted-by":"crossref","first-page":"575","DOI":"10.4103\/ijmr.IJMR_906_18","article-title":"CFTR related male infertility: Relevance of genetic testing and counselling in Indian population","volume":"152","author":"Gaikwad","year":"2020","journal-title":"Indian J Med Res"},{"key":"R27-2-20241212","first-page":"3562719","article-title":"SLC9A3 affects vas deferens development and associates with Taiwanese congenital bilateral absence of the vas deferens","volume":"2019","author":"Wu","year":"2019","journal-title":"Biomed Res Int"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.4103\/ijmr.IJMR_649_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T23:03:38Z","timestamp":1751497418000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/cftr-gene-variants-in-indian-congenital-bilateral-absence-of-vas-deferens-its-relevance-in-genetic-counselling\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.4103\/ijmr.ijmr_649_20","relation":{},"ISSN":["0971-5916"],"issn-type":[{"value":"0971-5916","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]}}}