Detalhe da pesquisa
1.
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
J Pediatr
; 265: 113841, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37995928
2.
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Am J Med Genet A
; 188(9): 2599-2604, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35792504
3.
Role of the Mevalonate Pathway in Adrenocortical Tumorigenesis.
Horm Metab Res
; 53(2): 124-131, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33307558
4.
APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses.
Pediatr Nephrol
; 36(8): 2327-2336, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33585978
5.
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Neuroendocrinology
; 110(11-12): 959-966, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31726455
6.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
J Pediatr
; 215: 192-198, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31630891
7.
A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.
BMC Nephrol
; 20(1): 322, 2019 08 16.
Artigo
Inglês
| MEDLINE | ID: mdl-31419955
8.
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Clin Endocrinol (Oxf)
; 89(2): 164-177, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29668062
9.
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Birth Defects Res C Embryo Today
; 108(4): 309-320, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28033660
10.
Effect of atorvastatin on muscle tissues of dermatomyositis and antisynthetase syndrome patients with dyslipidemia.
Int J Rheum Dis
; 27(1): e14965, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37933530
11.
Clinical Characteristics of Children with THRA mutations: Variable Phenotype and Good Response to rhGH Therapy.
Horm Res Paediatr
; 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38744258
12.
Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma.
J Endocr Soc
; 8(6): bvae059, 2024 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38655100
13.
Closing the loop on adrenal health, dysfunction, and disease.
Sci Transl Med
; 15(701): eadh4450, 2023 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37343081
14.
GBM Cells Exhibit Susceptibility to Metformin Treatment According to TLR4 Pathway Activation and Metabolic and Antioxidant Status.
Cancers (Basel)
; 15(3)2023 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36765551
15.
ß-Catenin-Driven Differentiation Is a Tissue-Specific Epigenetic Vulnerability in Adrenal Cancer.
Cancer Res
; 83(13): 2123-2141, 2023 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37129912
16.
Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition.
Support Care Cancer
; 20(9): 2195-7, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22552356
17.
Update on Biology and Genomics of Adrenocortical Carcinomas: Rationale for Emerging Therapies.
Endocr Rev
; 43(6): 1051-1073, 2022 11 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35551369
18.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
J Clin Endocrinol Metab
; 107(5): e1797-e1806, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35134971
19.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36373817
20.
Glutaminolysis dynamics during astrocytoma progression correlates with tumor aggressiveness.
Cancer Metab
; 9(1): 18, 2021 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33910646