Detalhe da pesquisa
1.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
2.
Electrocardiographic data of children with type 1 diabetes mellitus.
Cardiol Young
; 32(1): 106-110, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34724995
3.
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia.
Gynecol Endocrinol
; 36(12): 1136-1139, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32654531
4.
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
Gynecol Endocrinol
; 36(8): 739-742, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31885295
5.
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Hum Mol Genet
; 26(23): 4556-4571, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973407
6.
Evaluation of QT dispersion and Tp-e interval in children with subclinical hypothyroidism.
Pacing Clin Electrophysiol
; 41(4): 372-375, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29369370
7.
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
J Clin Res Pediatr Endocrinol
; 16(1): 76-83, 2024 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37847107
8.
Subclinical hypothyroidism and long QT.
Pacing Clin Electrophysiol
; 41(9): 1277, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019377
9.
Evaluation of Clinical and Laboratory Findings in the Differential Diagnosis of Central Precocious Puberty and Premature Thelarche.
Indian J Endocrinol Metab
; 27(3): 237-241, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37583412
10.
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
J Clin Res Pediatr Endocrinol
; 15(3): 329-333, 2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35735786
11.
The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey.
Endocrine
; 79(2): 376-383, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194344
12.
Revisiting the Annual Incidence of Type 1 Diabetes Mellitus in Children from the Southeastern Anatolian Region of Turkey: A Regional Report
J Clin Res Pediatr Endocrinol
; 14(2): 172-178, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35014245
13.
A rare cause of primary amenorrhea: LHCGR gene mutations.
Eur J Obstet Gynecol Reprod Biol
; 272: 193-197, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366614
14.
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Endocrine
; 75(3): 927-933, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34724156
15.
Is cranial imaging necessary in girls between 6-8 years diagnosed with central precocious puberty?
Minerva Endocrinol (Torino)
; 2021 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34546020
16.
A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
J Pediatr Endocrinol Metab
; 34(11): 1463-1468, 2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271604
17.
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Hormones (Athens)
; 20(2): 293-298, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33123976
18.
Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes
J Clin Res Pediatr Endocrinol
; 13(1): 72-79, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820875
19.
The association between electrocardiographic data and obesity in children and adolescents.
Minerva Pediatr (Torino)
; 2021 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861053
20.
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
J Clin Res Pediatr Endocrinol
; 13(1): 34-43, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938580