Detalhe da pesquisa
1.
Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years.
Osteoporos Int
; 31(5): 905-912, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31897546
2.
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Osteoporos Int
; 31(7): 1341-1352, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32123938
3.
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
Clin Genet
; 93(2): 408-411, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29044499
4.
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Hum Reprod
; 33(5): 914-918, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29538680
5.
Non-coding variation in disorders of sex development.
Clin Genet
; 91(2): 163-172, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27801941
6.
Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.
Hum Reprod
; 32(12): 2561-2573, 2017 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29121256
7.
Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line.
Horm Metab Res
; 48(7): 484-8, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27246621
8.
Negative correlation between tumour size and cortisol/ACTH ratios in patients with Cushing's disease harbouring microadenomas or macroadenomas.
J Endocrinol Invest
; 39(12): 1401-1409, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27363699
9.
DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
Horm Metab Res
; 47(9): 656-61, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25985323
10.
Diagnosis of prolactinoma in two male-to-female transsexual subjects following high-dose cross-sex hormone therapy.
Andrologia
; 47(6): 680-4, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25059808
11.
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
Clin Genet
; 84(5): 482-8, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22978668
12.
CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia.
Horm Metab Res
; 45(4): 301-7, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23322511
13.
The genetic and functional basis of isolated 17,20-lyase deficiency.
Nat Genet
; 17(2): 201-5, 1997 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-9326943
14.
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
Nat Genet
; 7(1): 34-9, 1994 May.
Artigo
Inglês
| MEDLINE | ID: mdl-8075637
15.
Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and -202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency.
Pharmacogenomics J
; 12(5): 439-45, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21468024
16.
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
Clin Genet
; 76(6): 503-10, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19930153
17.
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
J Clin Invest
; 90(3): 799-809, 1992 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-1522235
18.
Ectopic ACTH syndrome caused by pheochromocytoma: computed tomography-guided percutaneous ethanol injection as an alternative treatment.
J Endocrinol Invest
; 30(9): 780-6, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17993772
19.
Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies.
Eur J Endocrinol
; 177(1): 93-102, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28432270
20.
Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.
J Clin Endocrinol Metab
; 91(9): 3451-6, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16822826