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.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29265571
3.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clin Endocrinol (Oxf)
; 87(6): 725-732, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28734020
4.
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
Genet Med
; 21(1): 260, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959388
5.
The phenotypic spectrum associated with OTX2 mutations in humans.
Eur J Endocrinol
; 185(1): 121-135, 2021 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950863
6.
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Genes (Basel)
; 12(8)2021 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440302
7.
A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation.
Horm Res Paediatr
; 93(3): 197-205, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799208
8.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Arch Endocrinol Metab
; 63(2): 167-174, 2019 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090814
9.
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.
J Pediatr Endocrinol Metab
; 32(2): 173-179, 2019 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30676998
10.
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
Endocr Connect
; 8(5): 590-595, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30959475
11.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
Arch. endocrinol. metab. (Online)
; 63(2): 167-174, Mar.-Apr. 2019. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-1001214