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.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607910
3.
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
4.
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
5.
Adrenocortical carcinoma in atypical Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
Pediatr Blood Cancer
; 67(1): e28042, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612591
6.
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
7.
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
8.
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.
Eur J Endocrinol
; 186(5): K25-K31, 2022 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235537
9.
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
10.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Eur J Endocrinol
; 186(1): 65-72, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714774
11.
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
12.
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
13.
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