https://orcid.org/0000-0001-5817-8141
References
- Ferlin A, Dipresa S, Delbarba A, et al. Contemporary genetics-based diagnostics of male infertility. Expert Rev Mol Diagn. 2019;19:623–633.
- Ferlin A, Raicu F, Gatta V, et al. Male infertility: role of genetic background. Reprod Biomed Online. 2007;14:734–745.
- Ferlin A, Foresta C. New genetic markers for male infertility. Curr Opin Obstet Gynecol. 2014;26:193–198.
- Pizzol D, Ferlin A, Garolla A, et al. Genetic and molecular diagnostics of male infertility in the clinical practice. Front Biosci (Landmark Ed). 2014;19:291–303.
- Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15:369–384.
- Cannarella R, Condorelli RA, Duca Y, et al. New insights into the genetics of spermatogenic failure: a review of the literature. Hum Genet. 2019;138:125–140.
- Oud MS, Volozonoka L, Smits RM, et al. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod. 2019;34:932–941.
- Yu J, Chen Z, Ni Y, et al. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod. 2012;27:25–35.
- de Souza DAS, Faucz FR, Pereira-Ferrari L, et al. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology. 2018;6:127–135.
- Casals T, Bassas L, Egozcue S, et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod. 2000;15:1476–1483.
- Casals T, Bassas L, Ruiz-Romero J, et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet. 1995;95:205–211.
- Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475–1480.
- Ratbi I, Legendre M, Niel F, et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod. 2007;22:1285–1291.
- Taulan M, Girardet A, Guittard C, et al. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet. 2007;8:22.
- Trujillano D, Ramos MD, Gonzalez J, et al. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet. 2013;50:455–462.
- Giuliani R, Antonucci I, Torrente I, et al. Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. Asian J Androl. 2010;12:819–826.
- Patat O, Pagin A, Siegfried A, et al. Truncating mutations in the adhesion g protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens. Am J Hum Genet. 2016;99:437–442.
- Yang B, Wang J, Zhang W, et al. Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population. Andrology. 2017;5:954–957.
- Yuan P, Liang ZK, Liang H, et al. Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles. Andrology. 2019;7:329–340.
- Khan MJ, Pollock N, Jiang H, et al. X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Sci Rep. 2018;8:16280.
- Ferlin A, Garolla A, Ghezzi M, et al. Sperm count and hypogonadism as markers of general male health. Eur Urol Focus. 2019 Aug 16:S2405-4569(19)30210-X. [Epub ahead of print] PubMed PMID: 31427194. DOI:10.1016/j.euf.2019.08.001.