Browsing by Author "Houston, Brendan"
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- Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome dataPublication . Lopes, Alexandra; Nagirnaja, Liina; Filipa, Carvalho; Gonçalves, João; Fernades, Susana; Pereira-Caetano, Iris; Almstrup, Kristian; Rajpert-De Meyts, Ewa; Seixas, Susana; Houston, Brendan; Barros, Alberto; O’Bryan, Moira; Aston, Kenneth; Conrad, Donald; on Behalf of the GEMINI ConsortiumBackground: Azoospermia, the most severe form of male infertility, affects approximately 1% of men worldwide and in the great majority of the cases the etiology of the disease remains unidentified. Given the large number of genes involved in spermatogenesis it is likely that a proportion of cases of idiopathic azoospermia have a genetic basis. We have previously described, using SNP arrays, an excess of low frequency copy number variants (CNVs) in both the autosomes and the sex chromosomes in non-obstructive azoospermia (NOA) suggesting an heterogeneous genetic ethiology for this condition.