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1.
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
; 140(7): 1031-1043, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33689014
2.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Hum Genet
; 140(1): 43-57, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33108537
3.
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
; 140(7): 1045, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33770252
4.
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
Elife
; 122024 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38441556
5.
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Elife
; 122023 11 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37934199
6.
Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B.
Cells
; 11(1)2021 12 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-35011680
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