Detalhe da pesquisa
1.
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.
Am J Hematol
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38666530
2.
Coinheritance of PIEZO1 variants and multi-locus red blood cell defects account for the symptomatic phenotype in beta-thalassemia carriers.
Am J Hematol
; 98(6): E130-E133, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882369
3.
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
Genet Med
; 24(8): 1653-1663, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511137
4.
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
Int J Mol Sci
; 23(3)2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163229
5.
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065289
6.
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
Am J Hematol
; 95(2): 188-197, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737919
7.
RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.
Int J Mol Sci
; 21(15)2020 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32759740
8.
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.
Am J Hematol
; 94(11): 1227-1235, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400017
9.
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene.
Haematologica
; 108(10): 2872-2876, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102609
10.
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Am J Hematol
; 93(12): 1509-1517, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187933
11.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Am J Hematol
; 98(4): E72-E75, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695705
12.
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Am J Hematol
; 93(5): 672-682, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396846
13.
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge.
Haematologica
; 107(9): 2280-2284, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35443567
14.
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.
Am J Hematol
; 95(11): 1423-1426, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720728
15.
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.
Int J Lab Hematol
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747503
16.
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
Haematologica
; 103(3): e94-e97, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29191841
17.
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Blood Adv
; 7(12): 2681-2693, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36595486
18.
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
Sci Rep
; 13(1): 4395, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927785
19.
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Front Genet
; 13: 956723, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36437915
20.
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Genes (Basel)
; 12(7)2021 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34201899