Detalhe da pesquisa
1.
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
Int J Mol Sci
; 25(6)2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542117
2.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
3.
Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.
J Pharmacokinet Pharmacodyn
; 48(5): 711-723, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117565
4.
Prescription of vitamin D among Swiss pediatricians.
Eur J Pediatr
; 178(7): 1119-1123, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31134320
5.
Circadian and ultradian cardiovascular rhythmicity in obese children.
Eur J Pediatr
; 175(8): 1031-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240757
6.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Hum Mutat
; 36(8): 743-52, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907713
7.
Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.
Gynecol Endocrinol
; 31(5): 349-54, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25585547
8.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
J Am Soc Nephrol
; 25(10): 2366-75, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700880
9.
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Mol Syndromol
; 14(4): 347-361, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37766831
10.
Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease.
Front Med (Lausanne)
; 10: 1099470, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37206476
11.
Evidence for protein leverage in a general population sample of children and adolescents.
Eur J Clin Nutr
; 77(6): 652-659, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797489
12.
Impact of Type 1 Diabetes Mellitus on Bone Health in Children.
Horm Res Paediatr
; 95(3): 205-214, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34937025
13.
Modest decrease in severity of obesity in adolescence associates with low arterial stiffness.
Atherosclerosis
; 335: 23-30, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34543877
14.
Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17ß-Hydroxysteroid Dehydrogenase Activities.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865200
15.
Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency.
J Clin Endocrinol Metab
; 93(3): 974-80, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18029459
16.
Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway.
Mol Cell Endocrinol
; 452: 64-73, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501574
17.
Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.
Eur J Endocrinol
; 155(1): 143-51, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16793961
18.
Increased ambulatory arterial stiffness index in obese children.
Atherosclerosis
; 238(2): 185-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25528426
19.
IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.
J Clin Endocrinol Metab
; 100(12): E1575-83, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485222
20.
Radiometrical, hormonal and biological correlates of skeletal growth in the female rat from birth to senescence.
Growth Horm IGF Res
; 24(2-3): 83-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735836