Search details
1.
Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
Clin Endocrinol (Oxf)
; 2024 May 26.
Article
in English
| MEDLINE | ID: mdl-38796770
2.
Development of external genitalia during mini-puberty: is it related to somatic growth or reproductive hormones?
Eur J Pediatr
; 183(3): 1325-1332, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38133811
3.
Evaluating breast ultrasonography as a complementary diagnostic method in girls with central precocious puberty.
Pediatr Radiol
; 2024 May 08.
Article
in English
| MEDLINE | ID: mdl-38717607
4.
Rare forms of congenital adrenal hyperplasia.
Clin Endocrinol (Oxf)
; 2023 Dec 21.
Article
in English
| MEDLINE | ID: mdl-38126084
5.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia
; 65(2): 336-342, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34686905
6.
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.
Article
in English
| MEDLINE | ID: mdl-34761296
7.
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Am J Med Genet A
; 188(9): 2701-2706, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35792517
8.
Adrenal steroids reference ranges in infancy determined by LC-MS/MS.
Pediatr Res
; 92(1): 265-274, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34556810
9.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34607910
10.
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.
Article
in English
| MEDLINE | ID: mdl-33386952
11.
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Hum Mol Genet
; 27(11): 1913-1926, 2018 06 01.
Article
in English
| MEDLINE | ID: mdl-29566152
12.
Clinical Significance of Hypophosphatasemia in Children.
Calcif Tissue Int
; 106(6): 608-615, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32088736
13.
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.
Calcif Tissue Int
; 107(1): 96-103, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32337609
14.
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Genet Med
; 20(7): 717-727, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29261182
15.
Acquired modification of sphingosine-1-phosphate lyase activity is not related to adrenal insufficiency.
BMC Neurol
; 18(1): 48, 2018 Apr 23.
Article
in English
| MEDLINE | ID: mdl-29685115
16.
Hypoglycemia is common in children with cystic fibrosis and seen predominantly in females.
Pediatr Diabetes
; 18(7): 607-613, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-27873431
17.
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.
Clin Endocrinol (Oxf)
; 85(3): 393-9, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27256595
18.
Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche.
Clin Endocrinol (Oxf)
; 82(5): 712-8, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25208296
19.
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Am J Med Genet A
; 167(7): 1501-9, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25808063
20.
Higher insulin detemir doses are required for the similar glycemic control: comparison of insulin detemir and glargine in children with type 1 diabetes mellitus.
Pediatr Diabetes
; 16(5): 361-6, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25039448