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
em Inglês
| MEDLINE | ID: mdl-37162340
2.
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.
Gen Comp Endocrinol
; 299: 113591, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32828812
3.
Genetic Mutations in the GH/IGF Axis.
Pediatr Endocrinol Rev
; 16(Suppl 1): 39-62, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30378782
4.
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Clin Endocrinol (Oxf)
; 87(3): 300-311, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445628
5.
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.
J Clin Endocrinol Metab
; 108(6): 1355-1369, 2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36546343
6.
Meeting Reports: 2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights.
Pediatr Endocrinol Rev
; 14(4): 390-401, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28613050
7.
Latin American consensus: children born small for gestational age.
BMC Pediatr
; 11: 66, 2011 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21771322
8.
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.
Cells
; 10(8)2021 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440832
9.
McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up. / Síndrome de McCune-Albright, una forma poco frecuente de pubertad precoz: diagnóstico, tratamiento y evolución.
Arch Argent Pediatr
; 119(5): e420-e427, 2021 10.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-34569743
10.
Serum complexes of insulin-like growth factor-1 modulate skeletal integrity and carbohydrate metabolism.
FASEB J
; 23(3): 709-19, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18952711
11.
Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature.
Pediatr Endocrinol Rev
; 7(4): 339-46, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20679994
12.
The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action.
Mol Cell Endocrinol
; 518: 111006, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32861700
13.
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
em Inglês
| MEDLINE | ID: mdl-31902742
14.
p.R209H GH1 variant challenges short stature assessment.
Growth Horm IGF Res
; 50: 23-26, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31835104
15.
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Horm Res
; 72(3): 129-41, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19729943
16.
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Rev Paul Pediatr
; 37(4): 520-524, 2019.
Artigo
em Inglês, Português
| MEDLINE | ID: mdl-31166470
17.
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
em Inglês
| MEDLINE | ID: mdl-31539878
18.
Genetic disorders of GH action pathway.
Growth Horm IGF Res
; 38: 19-23, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29249625
19.
Same Phenotype in Children with Growth Hormone Deficiency and Resistance.
Case Rep Pediatr
; 2018: 5902835, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850346
20.
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
em Inglês
| MEDLINE | ID: mdl-29378236