Detalhe da pesquisa
1.
Plasma pentraxin-3 levels and its role in childhood obesity-Is it anti-inflammatory? A matched group study.
Clin Endocrinol (Oxf)
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691652
2.
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Clin Endocrinol (Oxf)
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324408
3.
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Am J Med Genet A
; 191(3): 831-834, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454653
4.
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes Obes Metab
; 25(7): 1950-1963, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36946378
5.
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
6.
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
7.
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
8.
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
9.
An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Questions.
Pediatr Nephrol
; 34(10): 1737, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053899
10.
An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Answers.
Pediatr Nephrol
; 34(10): 1739-1741, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053900
11.
The Authors' Reply: In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient.
Clin Endocrinol (Oxf)
; 89(2): 241-242, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29772605
12.
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Front Endocrinol (Lausanne)
; 14: 1203542, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600690
13.
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
14.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
J Neuroendocrinol
; 34(4): e13103, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170806
15.
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
J Clin Res Pediatr Endocrinol
; 13(3): 362-366, 2021 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389921
16.
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
17.
DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.
Horm Res Paediatr
; 94(9-10): 364-368, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695822
18.
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
J Pediatr Endocrinol Metab
; 34(5): 639-648, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852231
19.
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
Eur J Med Genet
; 63(4): 103782, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586465
20.
Efficiency of Single Dose of Tolvaptan Treatment During the Triphasic Episode After Surgery for Craniopharyngioma
J Clin Res Pediatr Endocrinol
; 11(2): 202-206, 2019 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30257818