Detalles de la búsqueda
1.
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Neuroendocrinology
; 113(8): 834-843, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36758531
2.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33313884
3.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
J Pediatr
; 215: 192-198, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31630891
4.
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.
Curr Obes Rep
; 13(2): 313-337, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38277088
5.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Mol Neurobiol
; 2024 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38180615
6.
Development of A Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy Use in Children with Growth Hormone Deficiency (GHD) - A GloBE-Reg Initiative.
Horm Res Paediatr
; 2023 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37703843
7.
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Genes (Basel)
; 12(8)2021 07 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440302
8.
Medical students with performance difficulties need wide support: Initial results of an academic tutoring program.
Clinics (Sao Paulo)
; 76: e2495, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33787676
9.
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
Clinics (Sao Paulo)
; 75: e1913, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32785571
10.
Genetic investigation of patients with tall stature.
Eur J Endocrinol
; 182(2): 139-147, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31751304
11.
High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.
J Pediatr Endocrinol Metab
; 21(7): 673-80, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18780602
12.
Comparison of 68Ga PET/CT to Other Imaging Studies in Medullary Thyroid Cancer: Superiority in Detecting Bone Metastases.
J Clin Endocrinol Metab
; 103(9): 3250-3259, 2018 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29846642
13.
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Front Endocrinol (Lausanne)
; 9: 458, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30177912
14.
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
Arch. endocrinol. metab. (Online)
; 66(1): 104-111, Jan.-Feb. 2022. tab, graf
Artículo
en Inglés
| LILACS | ID: biblio-1364312
15.
Sorafenib for the Treatment of Progressive Metastatic Medullary Thyroid Cancer: Efficacy and Safety Analysis.
Thyroid
; 26(3): 414-9, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26701095
16.
Medical students with performance difficulties need wide support: Initial results of an academic tutoring program
Clinics
; 76: e2495, 2021.
Artículo
en Inglés
| LILACS | ID: biblio-1153965
17.
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo
Clinics
; 75: e1913, 2020. tab, graf
Artículo
en Inglés
| LILACS | ID: biblio-1133412
18.
[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation]. / Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal.
Arq Bras Endocrinol Metabol
; 55(8): 541-9, 2011 Nov.
Artículo
en Portugués
| MEDLINE | ID: mdl-22218435
19.
[Short stature investigation: clinical, laboratorial and genetic aspects concerning the growth hormone insensitivity (GHI)]. / Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento.
Arq Bras Endocrinol Metabol
; 52(6): 1056-65, 2008 Aug.
Artículo
en Portugués
| MEDLINE | ID: mdl-18820818
20.
The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors.
Endocr Relat Cancer
; 19(3): L11-3, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22241720