[HTML][HTML] Improvement of large copy number variant detection by whole genome nanopore sequencing
J Cuenca-Guardiola, B de la Morena-Barrio… - Journal of Advanced …, 2023 - Elsevier
Introduction Whole-genome sequencing using nanopore technologies can uncover
structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore …
structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore …
[HTML][HTML] Molecular dissection of structural variations involved in antithrombin deficiency
B de la Morena-Barrio, C Orlando… - The Journal of Molecular …, 2022 - Elsevier
Inherited antithrombin deficiency, the most severe form of thrombophilia, is predominantly
caused by variants in SERPINC1. Few causal structural variants have been described …
caused by variants in SERPINC1. Few causal structural variants have been described …
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome
ME de la Morena‐Barrio, R Gindele… - American Journal of …, 2021 - Wiley Online Library
Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk
of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis …
of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis …
[HTML][HTML] Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
B de la Morena-Barrio, Á Palomo, J Padilla… - Journal of Thrombosis …, 2023 - Elsevier
Abstract Background Congenital factor XI (FXI) deficiency is a probably underestimated
coagulopathy that confers antithrombotic protection. Characterization of genetic defects in …
coagulopathy that confers antithrombotic protection. Characterization of genetic defects in …
Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin …
Y Imai, S Nagaya, Y Araiso, M Meguro-Horike… - International Journal of …, 2023 - Springer
Hereditary antithrombin (AT) deficiency is an autosomal dominant inherited thrombophilia. In
three pedigrees of hereditary type I AT deficiency, we identified novel variants c. 126delC (p …
three pedigrees of hereditary type I AT deficiency, we identified novel variants c. 126delC (p …
[HTML][HTML] Usefulness and limitations of multiple ligation-dependent probe amplification in antithrombin deficiency
R Cifuentes, J Padilla, ME de la Morena-Barrio… - International Journal of …, 2023 - mdpi.com
Multiplex ligation-dependent probe amplification (MLPA) identifies genetic structural variants
in SERPINC1 in 5% of cases with antithrombin deficiency (ATD), the most severe congenital …
in SERPINC1 in 5% of cases with antithrombin deficiency (ATD), the most severe congenital …
Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency
S Matsumoto, T Uchiumi, Y Ueyanagi, N Noda… - International Journal of …, 2024 - Springer
Congenital antithrombin (AT) or serpin C1 deficiency, caused by a SERPINC1 abnormality,
is a high-risk factor for venous thrombosis. SERPINC1 is prone to genetic rearrangement …
is a high-risk factor for venous thrombosis. SERPINC1 is prone to genetic rearrangement …
Caracterización molecular, funcional y clínica de la deficiencia congénita de antitrombina: mejoras en el diagnóstico y en la comprensión de su fisiopatología
R Cifuentes Riquelme - 2024 - portalinvestigacion.um.es
La antitrombina es una N-glicoproteína clave en el sistema hemostático por su actividad
anticoagulante, función que amplifica la heparina. La antitrombina está codificada por el …
anticoagulante, función que amplifica la heparina. La antitrombina está codificada por el …