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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34270938
2.
Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood.
Pituitary
; 24(2): 216-228, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098037
3.
Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma.
Neuroendocrinology
; 104(2): 183-193, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27161333
4.
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Arch Endocrinol Metab
; 66(1): 104-111, 2022 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35029852
5.
Metabolomics as a potential tool for the diagnosis of growth hormone deficiency (GHD): a review.
Arch Endocrinol Metab
; 64(6): 654-663, 2021 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33085993
6.
Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.
J Clin Endocrinol Metab
; 104(12): 6385-6390, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31393562
7.
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
J Clin Endocrinol Metab
; 104(12): 5923-5934, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31287541
8.
High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.
J Pediatr Endocrinol Metab
; 21(7): 673-80, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18780602
9.
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
J Steroid Biochem Mol Biol
; 174: 14-16, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28743543
10.
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
Arch. endocrinol. metab. (Online)
; 66(1): 104-111, Jan.-Feb. 2022. tab, graf
Artículo
en Inglés
| LILACS | ID: biblio-1364312
11.
Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma
Neuroendocrinology
; 104(2): 183-193, 2017.
Artículo
en Inglés
| LILACS, SES-SP | ID: biblio-1024761
12.
Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.
Growth Horm IGF Res
; 19(2): 179-86, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19036620
13.
Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.
J Endocrinol
; 200(2): 167-75, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18971217
14.
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.
Arq Bras Endocrinol Metabol
; 52(8): 1282-7, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19169482
15.
Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
Clin Endocrinol (Oxf)
; 66(1): 95-102, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17201807
16.
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage / Estatura alta e hipodesenvolvimento mamário após reposição estrogênica em paciente com hipogonadismo hipergonadotrófico e cariótipo 45,X/46,X, der(X) com superdosagem do gene SHOX
Arq. bras. endocrinol. metab
; 52(8): 1282-1287, Nov. 2008. ilus, tab
Artículo
en Inglés
| LILACS | ID: lil-503314
17.
Duplicação da hipófise e da haste hipofisária: relato de um caso e revisão da literatura / Duplication of pituitary gland and stalk: case report and review of the literature
Radiol. bras
; 34(3): 171-173, maio-jun. 2001. ilus
Artículo
en Portugués
| LILACS | ID: lil-352936
18.
Carcinoma adrenocortical virilizante: relato de caso / Virilizing adrenocortical carcinoma: report of a case
HB cient
; 4(3): 237-9, set.-dez. 1997. tab
Artículo
en Portugués
| LILACS | ID: lil-253978
19.
Análise do gene HESX1 em pacientes portadores de deficiência do hormônio de crescimento associada ou não a defeitos de linha média / Analysis of HESX1 gene in patients with growth hormone deficiency associated or not with midline defects
São Paulo; s.n; 2003. 56 p. ilus, tab.
Tesis
en Portugués
| LILACS | ID: lil-408872
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