Detalhe da pesquisa
1.
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
Calcif Tissue Int;
110(4): 441-450, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34761296
2.
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Calcif Tissue Int;
108(5): 576-586, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33386952
3.
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.
Calcif Tissue Int;
107(1): 96-103, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32337609
4.
Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.
Pediatr Nephrol;
35(3): 403-404, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31529153
5.
Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.
Pediatr Nephrol;
35(3): 405-407, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31529157
6.
Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus.
Turk Arch Pediatr;
59(1): 31-37, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38454257
7.
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.
J Pediatr Endocrinol Metab;
37(6): 575-579, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38650427
8.
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Arch Endocrinol Metab;
68: e220254, 2023 Nov 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37948564
9.
Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature.
Horm Res Paediatr;
96(5): 527-537, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36630941
10.
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.
J Pediatr Endocrinol Metab;
36(4): 401-408, 2023 Apr 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36883204
11.
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.
Front Genet;
13: 938814, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35812760
12.
Does COVID-19 predispose patients to type 1 diabetes mellitus?
Clin Pediatr Endocrinol;
31(1): 33-37, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35002066
13.
Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients
J Clin Res Pediatr Endocrinol;
14(1): 10-16, 2022 03 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34355879
14.
Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.
Horm Res Paediatr;
93(5): 313-321, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33147586
15.
Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty.
Horm Res Paediatr;
93(1): 66-72, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31972562
16.
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Hormones (Athens);
18(2): 229-236, 2019 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30747411
17.
Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.
Horm Res Paediatr;
92(4): 262-268, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31461705
18.
Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism.
Sex Dev;
13(5-6): 264-270, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32961540
19.
Primary adrenal insufficiency in children: Diagnosis and management.
Best Pract Res Clin Endocrinol Metab;
32(4): 397-424, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30086866
20.
Comparison of Axillary and Tympanic Temperature Measurements in Children Diagnosed with Acute Otitis Media.
Int J Pediatr;
2016: 1729218, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27648079