Detalhe da pesquisa
1.
Serum kisspeptin, neurokinin B and inhibin B levels can be used as alternative parameters to distinguish idiopathic CPP from premature thelarche in the early stages of puberty.
Clin Endocrinol (Oxf)
; 98(6): 788-795, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36879296
2.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia
; 65(2): 336-342, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34686905
3.
Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency.
Cardiol Young
; 32(1): 88-93, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33941295
4.
Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life.
Pediatr Diabetes
; 21(7): 1169-1175, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32656923
5.
Ion Transporters, Channelopathies, and Glucose Disorders.
Int J Mol Sci
; 20(10)2019 May 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31137773
6.
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
Pediatr Diabetes
; 19(5): 898-904, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29521454
7.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Hum Mol Genet
; 23(24): 6432-40, 2014 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25015100
8.
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.
Am J Med Genet A
; 170A(4): 942-8, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26788866
9.
Severe Hypercalcemia in a Child With Acute Lymphoblastic Leukemia Relapse: Successful Management With Combination of Calcitonin and Bisphosphonate.
J Pediatr Hematol Oncol
; 38(3): 232-4, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26907650
10.
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
Inglês
| MEDLINE | ID: mdl-25262569
11.
Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.
Arch Endocrinol Metab
; 68: e210305, 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38289143
12.
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.
Mol Syndromol
; 15(2): 104-113, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38585545
13.
Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging Therapies.
Diabetes Metab Syndr Obes
; 16: 259-273, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36760580
14.
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
Inglês
| MEDLINE | ID: mdl-35735786
15.
Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection.
Clin Endocrinol (Oxf)
; 76(1): 126-30, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21790701
16.
Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression.
J Pediatr Endocrinol Metab
; 25(3-4): 313-6, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22768662
17.
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
J Pediatr Endocrinol Metab
; 25(5-6): 561-3, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22876557
18.
Vitamin D-deficient rickets mimicking ankylosing spondylitis in an adolescent girl.
Turk J Pediatr
; 54(2): 177-9, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22734306
19.
Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age.
J Pediatr Endocrinol Metab
; 35(5): 695-698, 2022 May 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35218690
20.
Continuous Hepatogonodal and Splenogonogal Fusion: A Rare Cause of Bilateral Intra-Abdominal Testis in an 18-Month-Old Boy.
European J Pediatr Surg Rep
; 10(1): e80-e83, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-35761905