Detalhe da pesquisa
1.
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
Blood
; 140(2): 140-151, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486842
2.
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Int J Mol Sci
; 24(5)2023 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902454
3.
Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.
Int J Mol Sci
; 24(22)2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003459
4.
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
Am J Hematol
; 97(2): 216-225, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800304
5.
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
Am J Hematol
; 96(11): 1363-1373, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324211
6.
Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.
Liver Int
; 40(5): 1168-1177, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31885188
7.
Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content.
Platelets
; 30(6): 743-751, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30296193
8.
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Haematologica
; 108(10): 2803-2807, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021543
9.
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
Pediatr Res
; 83(1-1): 119-127, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28820871
10.
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
Blood
; 133(24): 2618-2622, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043424
11.
A pilot study on the impact of congenital thrombophilia in COVID-19.
Eur J Clin Invest
; 51(5): e13546, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33738814
12.
A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.
Am J Hematol
; 96(3): E83-E88, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326144
13.
Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.
Br J Haematol
; 186(4): e82-e86, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941754
14.
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.
Blood
; 120(4): 900-4, 2012 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22498748
15.
MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
Haematologica
; 104(2): e79-e82, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30545931
16.
Control of post-translational modifications in antithrombin during murine post-natal development by miR-200a.
J Biomed Sci
; 20: 29, 2013 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23678987
17.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
J Thromb Haemost
; 21(7): 1779-1788, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940803
18.
The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.
Mol Med
; 18: 762-70, 2012 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22481271
19.
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
JCI Insight
; 7(19)2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214221
20.
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
Thromb Haemost
; 122(8): 1369-1378, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764313