Detalhe da pesquisa
1.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet
; 61(4): 378-384, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979962
2.
Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Int J Mol Sci
; 23(16)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012511
3.
New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism.
Clin Endocrinol (Oxf)
; 93(3): 339-345, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32437589
4.
Differences in Mitochondrial Membrane Potential Identify Distinct Populations of Human Cardiac Mesenchymal Progenitor Cells.
Int J Mol Sci
; 21(20)2020 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050449
5.
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Clin Endocrinol (Oxf)
; 91(5): 669-675, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31408196
6.
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review.
World J Surg Oncol
; 16(1): 164, 2018 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097050
7.
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Acta Neuropathol
; 137(1): 175-177, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446821
8.
Beyond MEN1, when to think about MEN4? Retrospective study on 5600 patients in the French population & literature review.
J Clin Endocrinol Metab
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288531
9.
DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.
Front Pediatr
; 11: 1150418, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37215607
10.
Nitric oxide and calcium participate in the fine regulation of mitochondrial biogenesis in follicular thyroid carcinoma cells.
J Biol Chem
; 286(20): 18229-39, 2011 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454643
11.
MADGene: retrieval and processing of gene identifier lists for the analysis of heterogeneous microarray datasets.
Bioinformatics
; 27(5): 725-6, 2011 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21216776
12.
Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.
Endocr Relat Cancer
; 29(5): 267-272, 2022 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35258481
13.
Meta-analysis of muscle transcriptome data using the MADMuscle database reveals biologically relevant gene patterns.
BMC Genomics
; 12: 113, 2011 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21324190
14.
Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients.
Eur Thyroid J
; 10(6): 542-547, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34956927
15.
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Front Endocrinol (Lausanne)
; 12: 657913, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248839
16.
Plasmatic and Urinary 5-Hydroxyindolacetic Acid Measurements in Patients With Midgut Neuroendocrine Tumors: A GTE Study.
J Clin Endocrinol Metab
; 106(4): e1673-e1682, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382891
17.
Acquired von Willebrand's syndrome caused by primary hypothyroidism in a 5-year-old girl.
J Pediatr Endocrinol Metab
; 32(11): 1295-1298, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472063
18.
Weight-loss with activation of brown fat: Suspect pheochromocytoma.
Ann Endocrinol (Paris)
; 80(5-6): 314-318, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31606198
19.
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] / Syndrome associé aux variants pathogènes constitutionnels de DICER1 : Où en sommes-nous en 2019 ?
Bull Cancer
; 106(12): 1177-1189, 2019 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-31610911
20.
The cloned equine thyrotropin receptor is hypersensitive to human chorionic gonadotropin; identification of three residues in the extracellular domain involved in ligand specificity.
Endocrinology
; 149(10): 5088-96, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18535103