List of works - José Padilla Ruiz

A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke event

scientific article published on 06 July 2015

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

scientific article published on 12 June 2020

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

scientific article

Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

scientific article published on 21 April 2016

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

scientific article published on 01 May 2019

Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

scientific article published on 17 January 2013

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

scientific article published on 21 July 2016

Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment.

scientific article

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.

scientific article

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

scientific article published on 18 August 2017

Genotype-guided therapy improves initial acenocoumarol dosing. Results from a prospective randomised study.

scientific article published on 5 November 2015

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study

scientific article published on 27 September 2017

High levels of latent antithrombin in plasma from patients with antithrombin deficiency

scientific article published on 23 February 2017

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

scientific article

Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.

scientific article published on 21 March 2018

Persistent cytotoxic T lymphocyte expansions after allogeneic haematopoietic stem cell transplantation: kinetics, clinical impact and absence of STAT3 mutations.

scientific article

Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency

article

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

scientific article published on 17 March 2017

Uniparental disomy causes deficiencies of vitamin K-dependent proteins

scientific article published on 28 September 2016

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

scientific article

List of works by José Padilla Ruiz

A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke event

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment.

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

Genotype-guided therapy improves initial acenocoumarol dosing. Results from a prospective randomised study.

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study

High levels of latent antithrombin in plasma from patients with antithrombin deficiency

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.

Persistent cytotoxic T lymphocyte expansions after allogeneic haematopoietic stem cell transplantation: kinetics, clinical impact and absence of STAT3 mutations.

Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

Uniparental disomy causes deficiencies of vitamin K-dependent proteins

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.