Detalhe da pesquisa
1.
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
medRxiv
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633783
2.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Nat Genet
; 56(4): 579-584, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575728
3.
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
Eur J Endocrinol
; 188(4): 353-365, 2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943306
4.
Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity.
Cell Genom
; 3(8): 100362, 2023 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601970
5.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Lancet Diabetes Endocrinol
; 11(8): 545-554, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385287
6.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
medRxiv
; 2023 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503126