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Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

The New England journal of medicine, 2011-12, Vol.365 (25), p.2357-2365

2011

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Codon optimization of human factor VIII cDNAs leads to high-level expression

Blood, 2011-01, Vol.117 (3), p.798-807

2011

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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Nature, 2004-02, Vol.427 (6974), p.537-541

2004

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Safe and efficient transduction of the liver after peripheral vein infusion of self-complementary AAV vector results in stable therapeutic expression of human FIX in nonhuman primates

Blood, 2007-02, Vol.109 (4), p.1414-1421

2007

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Genotype-phenotype correlation in combined deficiency of factor V and factor VIII

Blood, 2008-06, Vol.111 (12), p.5592-5600

2008

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Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver

Blood, 2006-04, Vol.107 (7), p.2653-2661

2006

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Solution structure of the major factor VIII binding region on von Willebrand factor

Blood, 2014-06, Vol.123 (26), p.4143-4151

2014

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Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A

Thrombosis and haemostasis, 2006-02, Vol.95 (2), p.373

2006

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The complex, confusing and poorly understood immune responses to AAV-mediated gene transfer in haemophilia-Is more or less immunosuppression required?

Journal of viral hepatitis, 2024-04, Vol.31 Suppl 1 (S1), p.21-25

2024

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Factor VIII: the protein, cloning its gene, synthetic factor and now – 35 years later – gene therapy; what happened in between?

British journal of haematology, 2020-05, Vol.189 (3), p.400-407

2020

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Recent advances in developing specific therapies for haemophilia

British journal of haematology, 2018-04, Vol.181 (2), p.161-172

2018

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Advances in Gene Therapy for Hemophilia

Human gene therapy, 2017-11, Vol.28 (11), p.1004

2017

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Haemophilia, the journey in search of a cure. 1960–2020

British journal of haematology, 2020-11, Vol.191 (4), p.573-578

2020

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Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Blood, 2006-03, Vol.107 (5), p.1903-1907

2006

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Mathematical models of coagulation—are we there yet?

Journal of thrombosis and haemostasis, 2024-06, Vol.22 (6), p.1689-1703

2024

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A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome

Blood, 2005-07, Vol.106 (2), p.542-549

2005

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A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS)

Thrombosis and haemostasis, 2005-09, Vol.94 (3), p.599

2005

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The Hemophilias — From Royal Genes to Gene Therapy

The New England journal of medicine, 2001-06, Vol.344 (23), p.1773-1779

2001

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Gene Therapy for Hemophilia

Hematology/oncology clinics of North America, 2017-10, Vol.31 (5), p.853-868

2017

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Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

Blood, 2008-08, Vol.112 (3), p.919-921

2008

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Interaction Between the a3 Region of Factor VIII and the TIL’E’ Domains of the von Willebrand Factor

Biophysical journal, 2019-08, Vol.117 (3), p.479-489

2019

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Use of a non‐depleting anti‐CD4 antibody to modulate the immune response to coagulation factors VIII and IX

British journal of haematology, 2002-09, Vol.118 (3), p.839-842

2002

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Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?

Annals of human genetics, 2011-11, Vol.75 (6), p.688-693

2011

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Factor Viii - Genetics
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Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

Codon optimization of human factor VIII cDNAs leads to high-level expression

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Safe and efficient transduction of the liver after peripheral vein infusion of self-complementary AAV vector results in stable therapeutic expression of human FIX in nonhuman primates

Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII

Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver

Solution structure of the major factor VIII binding region on von Willebrand factor

Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A

The complex, confusing and poorly understood immune responses to AAV-mediated gene transfer in haemophilia-Is more or less immunosuppression required?

AAV-mediated gene transfer in the perinatal period results in expression of FVII at levels that protect against fatal spontaneous hemorrhage

Factor VIII: the protein, cloning its gene, synthetic factor and now – 35 years later – gene therapy; what happened in between?

Recent advances in developing specific therapies for haemophilia

Advances in Gene Therapy for Hemophilia

Haemophilia, the journey in search of a cure. 1960–2020

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Mathematical models of coagulation—are we there yet?

A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome

A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS)

The Hemophilias — From Royal Genes to Gene Therapy

Gene Therapy for Hemophilia

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

Interaction Between the a3 Region of Factor VIII and the TIL’E’ Domains of the von Willebrand Factor

Use of a non‐depleting anti‐CD4 antibody to modulate the immune response to coagulation factors VIII and IX

Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?

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