Search Results - "Vinciguerra, Christine" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A

Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A

by Calvez, Thierry, Chambost, Hervé, d'Oiron, Roseline, Dalibard, Vincent, Demiguel, Virginie, Doncarli, Alexandra, Gruel, Yves, Huguenin, Yoann, Lutz, Patrice, Rothschild, Chantal, Vinciguerra, Christine, Goudemand, Jenny
Published in Haematologica (Roma) (01.01.2018)

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Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

by Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.07.2019)

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Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

by Jourdy, Yohann, Enjolras, Nathalie, Le Quellec, Sandra, Bordet, Jean Claude, Négrier, Claude, Vinciguerra, Christine, Dargaud, Yesim
Published in PloS one (01.11.2017)

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Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease

by Penel-Page, Mathilde, Meunier, Sandrine, Fretigny, Mathilde, Le Quellec, Sandra, Boisseau, Pierre, Vinciguerra, Christine, Ternisien, Catherine, Rugeri, Lucia
Published in Platelets (Edinburgh) (01.12.2017)

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First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations

First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations

by Elmahmoudi, Hejer, Khodjet-el-khil, Houssein, Wigren, Edvard, Jlizi, Asma, Zahra, Kaouther, Pellechia, Dorothé, Vinciguerra, Christine, Meddeb, Balkis, Elggaaied, Amel Ben Ammar, Gouider, Emna
Published in Diagnostic pathology (10.08.2012)

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Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations

by Vinciguerra, Christine, Zawadzki, Christophe, Dargaud, Yesim, Pernod, Gilles, Berger, Claire, Nougier, Christophe, Négrier, Claude
Published in Thrombosis and haemostasis (01.04.2006)

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Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency

Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency

by Jaillet, Jessica, Robert-Gnansia, Elisabeth, Till, Marianne, Vinciguerra, Christine, Edery, Patrick
Published in Birth defects research. A Clinical and molecular teratology (01.03.2005)

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Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A

by Valleix, Sophie, Vinciguerra, Christine, Lavergne, Jean-Maurice, Leuer, Marco, Delpech, Marc, Negrier, Claude
Published in Blood (15.10.2002)

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Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6

Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6

by Jourdy, Yohann, Chatron, Nicolas, Fretigny, Mathilde, Dericquebourg, Amy, Sanlaville, Damien, Vinciguerra, Christine
Published in Journal of thrombosis and haemostasis (01.10.2022)

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Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

by Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.04.2023)

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Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

by Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann
Published in Journal of thrombosis and haemostasis (01.04.2023)

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The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events

The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events

by Jourdy, Yohann, Frétigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Négrier, Claude, Vinciguerra, Christine
Published in Journal of thrombosis and haemostasis (01.05.2020)

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Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A

Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A

by Calvez, Thierry, Chambost, Hervé, Claeyssens-Donadel, Ségolène, d’Oiron, Roseline, Goulet, Véronique, Guillet, Benoît, Héritier, Virginie, Milien, Vanessa, Rothschild, Chantal, Roussel-Robert, Valérie, Vinciguerra, Christine, Goudemand, Jenny
Published in Blood (27.11.2014)

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Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A

by Jourdy, Yohann, Chatron, Nicolas, Frétigny, Mathilde, Zawadzki, Christophe, Lienhart, Anne, Stieltjes, Natalie, Rohrlich, Pierre-Simon, Thauvin-Robinet, Christel, Volot, Fabienne, Hamida, Yasmine Ferhat, Hariti, Ghania, Leuci, Alexandre, Dargaud, Yesim, Sanlaville, Damien, Vinciguerra, Christine
Published in Journal of thrombosis and haemostasis (01.06.2024)

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Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A

Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A

by Dericquebourg, Amy, Fretigny, Mathilde, Leuci, Alexandre, Zawadzki, Christophe, Huguenin, Yoann, Castet, Sabine‐Marie, Dargaud, Yesim, Vinciguerra, Christine, Jourdy, Yohann
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2023)

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Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

by Jourdy, Yohann, Fretigny, Mathilde, Nougier, Christophe, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2019)

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The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events

The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events

by Jourdy, Yohann, Fretigny, Mathilde, Lassalle, Fanny, Lillicrap, David, Negrier, Claude, Bouvagnet, Patrice, Vinciguerra, Christine
Published in Blood (29.11.2018)

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Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency

Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency

by Rezigue, Hamdi, Chamouni, Pierre, Fretigny, Mathilde, Barbay, Virginie, Le Cam‐Duchez, Véronique, Bobee, Victor, Lanne, Simon, Dumesnil, Cecile, Vinciguerra, Christine, Schneider, Pascale, Jourdy, Yohann
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2024)

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Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

by Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine
Published in American journal of human genetics (01.02.2018)

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Why patients with THBD c.1611CA

Why patients with THBD c.1611CA

by Jourdy, Yohann, Enjolras, Nathalie, Le Quellec, Sandra, Bordet, Jean Claude, Négrier, Claude, Vinciguerra, Christine, Dargaud, Yesim
Published in PloS one (16.11.2017)

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