Detalhe da pesquisa
1.
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
Hum Genet
; 141(2): 295-304, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066646
2.
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.
Genet Med
; 23(6): 1008-1016, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495532
3.
Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.
Clin Genet
; 95(2): 320-324, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467832
4.
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Clin Endocrinol (Oxf)
; 88(6): 799-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582446
5.
Mutations in FEZF1 cause Kallmann syndrome.
Am J Hum Genet
; 95(3): 326-31, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192046
6.
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
Am J Hum Genet
; 95(6): 754-62, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480036
7.
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).
Am J Med Genet A
; 170(7): 1918-23, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148679
8.
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
N Engl J Med
; 366(7): 629-35, 2012 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22335740
9.
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
Clin Endocrinol (Oxf)
; 82(3): 429-38, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25262569
10.
Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4
J Clin Res Pediatr Endocrinol
; 16(2): 160-167, 2024 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238968
11.
Body mass index evolution and ovarian function in adolescent girls who received GnRH agonist treatment for central precocious puberty or early and fast puberty.
J Pediatr Endocrinol Metab
; 36(11): 1044-1051, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37735929
12.
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.
J Clin Res Pediatr Endocrinol
; 2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974356
13.
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.
Turk J Pediatr
; 65(6): 1025-1032, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204317
14.
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Front Endocrinol (Lausanne)
; 14: 1203542, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600690
15.
Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age.
Turk J Pediatr
; 54(4): 352-61, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692715
16.
Unilateral exudative retinal detachment as the sole presentation of relapsing acute lymphoblastic leukemia.
Turk J Haematol
; 29(2): 181-4, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744652
17.
The utility of annual growth velocity standard deviation scores and measurements of biochemical parameters in long-term treatment monitoring of children with 21-hydroxylase deficiency.
Hormones (Athens)
; 21(3): 391-397, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243601
18.
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(6): e2359-e2364, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218660
19.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
J Neuroendocrinol
; 34(4): e13103, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170806
20.
Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey.
J Pediatr Endocrinol Metab
; 34(10): 1303-1309, 2021 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291625