Detalhe da pesquisa
1.
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Am J Hematol
; 99(1): 12-20, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867341
2.
APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
Haematologica
; 108(3): 772-784, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35638551
3.
The EAHAD blood coagulation factor VII variant database.
Hum Mutat
; 41(7): 1209-1219, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333443
4.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
; 105(3): 829-837, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273093
5.
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.
Haemophilia
; 26(2): 306-313, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32166871
6.
The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [ß29(B11)GlyâArg, HBB: c.88G>C].
Hemoglobin
; 44(1): 13-16, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32008383
7.
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
8.
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
Eur J Haematol
; 101(4): 566-569, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969830
9.
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Am J Hematol
; 97(11): E393-E395, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36052950
10.
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.
Liver Int
; 36(5): 746-54, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26474245
11.
Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations.
Haemophilia
; 25(4): e278-e281, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924984
12.
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Blood Adv
; 8(6): 1392-1404, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38286442
13.
Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER).
Haematologica
; 98(4): 538-44, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403322
14.
Critical evaluation of kinetic schemes for coagulation.
PLoS One
; 18(8): e0290531, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639392
15.
Surgery in rare bleeding disorders: the prospective MARACHI study.
Res Pract Thromb Haemost
; 7(7): 102199, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867585
16.
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
Haematologica
; 97(5): 705-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180436
17.
Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.
Genes (Basel)
; 13(1)2022 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052472
18.
Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis.
Br J Haematol
; 168(3): 452-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25179859
19.
The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
Haematologica
; 95(4): 551-6, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20145272
20.
Kinetics of the coagulation cascade including the contact activation system: sensitivity analysis and model reduction.
Biomech Model Mechanobiol
; 18(4): 1139-1153, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30900051