Detalhe da pesquisa
1.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
2.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158857
3.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Genome Med
; 16(1): 75, 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38822427
4.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
J Clin Endocrinol Metab
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717911
5.
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Front Endocrinol (Lausanne)
; 14: 1132787, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843573
6.
From Pituitary Stem Cell Differentiation to Regenerative Medicine.
Front Endocrinol (Lausanne)
; 11: 614999, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542708