Detalhe da pesquisa
1.
Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
Hum Genomics;
16(1): 10, 2022 03 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35361250
2.
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies.
Eur J Obstet Gynecol Reprod Biol;
294: 198-205, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38295708
3.
POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities.
Gene;
917: 148456, 2024 Jul 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38604507
4.
TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
J Ovarian Res;
17(1): 67, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38528613
5.
Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome.
Fertil Steril;
116(5): 1360-1369, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34311961
6.
A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.
J Ovarian Res;
12(1): 119, 2019 Dec 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31810472
7.
Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia.
J Pediatr Adolesc Gynecol;
32(5): 550-554, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31233831
8.
Correction: TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
J Ovarian Res;
17(1): 93, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685112