Detalhe da pesquisa
1.
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Hum Mol Genet
; 32(15): 2473-2484, 2023 07 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37162340
2.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Front Genet
; 15: 1354715, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38528912
3.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]. / Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria.
Arch Argent Pediatr
; 118(3): e300-e304, 2020 06.
Artigo
Espanhol
| MEDLINE | ID: mdl-32470270
4.
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Growth Horm IGF Res
; 50: 61-70, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31902742
5.
p.R209H GH1 variant challenges short stature assessment.
Growth Horm IGF Res
; 50: 23-26, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31835104
6.
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Eur J Endocrinol
; 181(5): K43-K53, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31539878
7.
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Mol Cell Endocrinol
; 473: 166-177, 2018 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29378236
8.
Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria / Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis
Arch. argent. pediatr
; 118(3): e300-e304, jun. 2020. ilus, tab
Artigo
Espanhol
| BINACIS, LILACS | ID: biblio-1116991