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.
Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with EPOR primary familial polycythemia on the island of New Caledonia.
Haematologica
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546672
3.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177683
4.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
5.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317877
6.
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
Br J Cancer
; 127(11): 1954-1962, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175619
7.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
J Med Genet
; 57(11): 752-759, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996412
8.
Carbon monoxide rebreathing method is a reliable test to evaluate the red cell mass in polycythaemia.
Br J Haematol
; 204(2): 706-709, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044575
9.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
10.
Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.
Blood
; 137(13): 1828-1832, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181827
11.
Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 531(7592): 126, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633630
12.
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Nature
; 480(7375): 94-8, 2011 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22012259
13.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Haematologica
; 106(1): 299-301, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165487
14.
Can absolute polycythaemia be identified without measurement of the red cell mass?
Br J Haematol
; 190(2): e107-e110, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430918
15.
Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation.
Mediators Inflamm
; 2015: 145293, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26538820
16.
Von Hippel-Lindau: how a rare disease illuminates cancer biology.
Semin Cancer Biol
; 23(1): 26-37, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22659535
17.
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Hum Mutat
; 35(1): 15-26, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115288
18.
High HFE mutation incidence in idiopathic erythrocytosis.
Br J Haematol
; 185(4): 794-795, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407617
19.
Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels.
Acta Haematol
; 139(4): 217-219, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29847812
20.
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Genes (Basel)
; 14(5)2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239426