Detalhe da pesquisa
1.
Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.
Int J Mol Sci
; 25(5)2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473903
2.
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Rev Endocr Metab Disord
; 24(2): 345-363, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36763264
3.
Low Levels of Serum Total Vitamin B12 Are Associated with Worse Metabolic Phenotype in a Large Population of Children, Adolescents and Young Adults, from Underweight to Severe Obesity.
Int J Mol Sci
; 24(23)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38068910
4.
Insulin Clearance at the Pubertal Transition in Youth with Obesity and Steatosis Liver Disease.
Int J Mol Sci
; 24(19)2023 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834412
5.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet
; 102(1): 56-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246835
6.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Int J Mol Sci
; 23(23)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498982
7.
Early alterations of cortical thickness and gyrification in migraine without aura: a retrospective MRI study in pediatric patients.
J Headache Pain
; 22(1): 79, 2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34294048
8.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A
; 182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124548
9.
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
BMC Pediatr
; 20(1): 120, 2020 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32164589
10.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.
Proc Natl Acad Sci U S A
; 114(10): E1933-E1940, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228528
11.
Exploiting novel tailored immunotherapies of type 1 diabetes: Short interfering RNA delivered by cationic liposomes enables efficient down-regulation of variant PTPN22 gene in T lymphocytes.
Nanomedicine
; 18: 371-379, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30439564
12.
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
Int J Mol Sci
; 20(8)2019 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30988269
13.
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Am J Hum Genet
; 96(2): 295-300, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620207
14.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet
; 96(3): 412-24, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728776
15.
Reliability of clonidine testing for the diagnosis of growth hormone deficiency in children and adolescents.
Clin Endocrinol (Oxf)
; 89(6): 765-770, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171702
16.
Relationship between non-alcoholic steatohepatitis, PNPLA3 I148M genotype and bone mineral density in adolescents.
Liver Int
; 38(12): 2301-2308, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30176114
17.
Use of testosterone gel compared to intramuscular formulation for puberty induction in males with constitutional delay of growth and puberty: a preliminary study.
J Endocrinol Invest
; 41(2): 259-263, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695484
18.
Low Birthweight Increases the Likelihood of Severe Steatosis in Pediatric Non-Alcoholic Fatty Liver Disease.
Am J Gastroenterol
; 112(8): 1277-1286, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28555633
19.
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
Am J Med Genet A
; 173(9): 2353-2358, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631895
20.
SLEEPING CUPID BY CARAVAGGIO: WHAT DIAGNOSIS?
Endocr Pract
; 23(7): 881-884, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448761