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.
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
4.
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
5.
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology.
J Cell Mol Med
; 28(3): e17961, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260950
6.
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
Haematologica
; 104(12): 2512-2518, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975910
7.
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
8.
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
9.
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
10.
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
11.
Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
Mob DNA
; 15(1): 9, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704576
12.
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
J Thromb Haemost
; 22(3): 851-859, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007062
13.
Improvement of large copy number variant detection by whole genome nanopore sequencing.
J Adv Res
; 50: 145-158, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323370
14.
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
15.
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
16.
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.
J Mol Diagn
; 24(5): 462-475, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218943
17.
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
18.
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Thromb Haemost
; 121(2): 182-191, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920809
19.
Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients.
Sci Rep
; 11(1): 7792, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833254
20.
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
Mol Genet Genomic Med
; 8(8): e1304, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32530140