Publication
Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome data
| dc.contributor.author | Lopes, Alexandra | |
| dc.contributor.author | Nagirnaja, Liina | |
| dc.contributor.author | Filipa, Carvalho | |
| dc.contributor.author | Gonçalves, João | |
| dc.contributor.author | Fernades, Susana | |
| dc.contributor.author | Pereira-Caetano, Iris | |
| dc.contributor.author | Almstrup, Kristian | |
| dc.contributor.author | Rajpert-De Meyts, Ewa | |
| dc.contributor.author | Seixas, Susana | |
| dc.contributor.author | Houston, Brendan | |
| dc.contributor.author | Barros, Alberto | |
| dc.contributor.author | O’Bryan, Moira | |
| dc.contributor.author | Aston, Kenneth | |
| dc.contributor.author | Conrad, Donald | |
| dc.contributor.author | on Behalf of the GEMINI Consortium | |
| dc.date.accessioned | 2019-02-25T14:58:41Z | |
| dc.date.available | 2019-02-25T14:58:41Z | |
| dc.date.issued | 2018-05-23 | |
| dc.description.abstract | Background: 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. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5942 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | CNV | pt_PT |
| dc.subject | Azoospermia | pt_PT |
| dc.subject | Male Infertility | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome data | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Peniche, Óbidos, Portugal | pt_PT |
| oaire.citation.title | 0th European Testis Workshop (European Workshop on the Molecular and Cellular Endocrinology of the Testis), 23-27 May 2018 | pt_PT |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |