Philippe De Mazancourt

Paris, 75015, France

Last Updated: 09/26/2026

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Found 40 publications

A Simple Restriction Fragment Length Polymorphism-Based Method for Multiplex Testing of Thrombosis Risk Factors FV Leiden and F2 G20210A with Highly Sensitive Contamination Detection.

A Simple Restriction Fragment Length Polymorphism-Based Method for Multiplex Testing of Thrombosis Risk Factors FV Leiden and F2 G20210A with Highly Sensitive Contamination Detection.

Journal: International journal of molecular sciences

Published: September 29, 2025

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14-Related Kyphoscoliotic Ehlers-Danlos Syndrome: A Case Report.

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14-Related Kyphoscoliotic Ehlers-Danlos Syndrome: A Case Report.

Journal: Clinical case reports

Published: September 30, 2024

Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?

Perinatal stroke and hypofibrinogenemia: Is the new missense fibrinogen variant γ p.Gly310Glu the cause of the procoagulant state?

Journal: Thrombosis research

Published: June 13, 2024

Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.

Journal: International journal of molecular sciences

Published: October 27, 2023

A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.

A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 17, 2023

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders.

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders.

Journal: European journal of haematology

Published: October 20, 2022

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.

Journal: Clinical case reports

Published: August 29, 2022

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2.

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2.

Journal: Clinical case reports

Published: May 18, 2022

Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.

Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: April 29, 2022

Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.

Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 12, 2022

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

Journal: Clinical case reports

Published: October 02, 2020

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Journal: Andrologia

Published: July 02, 2020

Showing 1-12 of 40

Last Updated: 09/26/2026