Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108537
2.
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Hum Mol Genet
; 25(5): 878-91, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721930
3.
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Am J Hum Genet
; 88(3): 351-61, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21397064
4.
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
Hum Reprod
; 27(8): 2549-58, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22627659
5.
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Hum Reprod
; 27(11): 3337-46, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888167
6.
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
J Genet Genomics
; 50(7): 536-540, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37116580