Detalles de la búsqueda
1.
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Hum Reprod
; 33(5): 914-918, 2018 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29538680
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27246621
3.
Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations.
Osteoporos Int
; 26(6): 1819-23, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25708797
4.
DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
Horm Metab Res
; 47(9): 656-61, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25985323
5.
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
Mol Endocrinol
; 30(1): 62-76, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26554443
6.
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.
Mol Endocrinol
; 12(3): 442-50, 1998 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-9514160
7.
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.
J Med Genet
; 41(5): 354-9, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15121773
8.
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
Hum Mutat
; 14(4): 353, 1999 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-10502786
9.
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
J Clin Endocrinol Metab
; 85(8): 2779-85, 2000 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-10946881
10.
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.
J Clin Endocrinol Metab
; 80(7): 2186-9, 1995 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-7608277
11.
Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.
J Clin Endocrinol Metab
; 86(9): 4068-71, 2001 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-11549627
12.
No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms.
J Clin Endocrinol Metab
; 80(3): 875-7, 1995 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-7883845
13.
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
J Clin Endocrinol Metab
; 80(8): 2490-4, 1995 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-7629248
14.
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
J Clin Endocrinol Metab
; 85(3): 1211-4, 2000 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-10720064
15.
Calcium-dependent protein kinase-C activity in human adrenocortical neoplasms, hyperplastic adrenals, and normal adrenocortical tissue.
J Clin Endocrinol Metab
; 79(3): 736-9, 1994 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-7521351
16.
A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.
J Clin Endocrinol Metab
; 82(11): 3892-4, 1997 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-9360557
17.
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.
J Clin Endocrinol Metab
; 84(3): 942-5, 1999 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-10084575
18.
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
J Clin Endocrinol Metab
; 83(7): 2435-40, 1998 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-9661624
19.
An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors.
J Clin Endocrinol Metab
; 86(10): 4970-3, 2001 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-11600572
20.
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
J Clin Endocrinol Metab
; 86(6): 2680-6, 2001 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-11397871