Philippe de Mazancourt
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Explore the profile of Philippe de Mazancourt including associated specialties, affiliations and a list of published articles.
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75
Citations
642
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0
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Recent Articles
1.
Marchi R, Meunier S, Rezigue H, Fretigny M, Alotaibi S, Neerman-Arbez M, et al.
Thromb Res
. 2024 Aug;
241:109106.
PMID: 39096848
No abstract available.
2.
de Mazancourt P, Mazoyer E, Hormi M, Hanss M
Int J Mol Sci
. 2023 Dec;
24(23).
PMID: 38068874
Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two...
3.
de Mazancourt P, Quelin F, Flaujac C, de Raucourt E, Guillet B, Bauduer F, et al.
Haemophilia
. 2023 May;
29(4):1113-1120.
PMID: 37252892
Introduction: Dominant-negative effects have been described for 10 F11 variants in the literature. Aim: The current study aimed at identifying putative dominant-negative F11 variants. Material And Methods: This research consisted...
4.
Foy M, Metay C, Frank M, Denarie N, Adham S, Billon C, et al.
Clin Case Rep
. 2023 Mar;
11(2):e6760.
PMID: 36860721
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely...
5.
Trossaert M, Chamouard V, Biron-Andreani C, Casini A, de Mazancourt P, de Raucourt E, et al.
Eur J Haematol
. 2023 Feb;
110(6):584-601.
PMID: 36748278
Introduction: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter-individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk...
6.
Foy M, de Mazancourt P, Bremond Gignac D, Gillas F, Trigui N, Mekki A, et al.
Clin Case Rep
. 2022 Nov;
10(11):e06338.
PMID: 36447672
We described a novel de novo missense variant of the gene encoding Collagen alpha-2(V) chain, associated with the classical Ehlers-Danlos syndrome (cEDS) (OMIM#130010), in a 14-year-old patient who presented with...
7.
de Mazancourt P, Harroche A, Pouymayou K, Sigaud M, Falaise C, Stieltjes N, et al.
Haemophilia
. 2022 Oct;
29(1):248-255.
PMID: 36195107
Introduction: Data on failure to identify the molecular mechanism underlying FXI deficiency by Sanger analysis and the contribution of gene segment deletions are almost inexistent. Aims And Methods: Prospective and...
8.
Hadjali-Saichi S, de Mazancourt P, Tapon-Bretaudiere J, Mirault T, Guenounou K, Frigaa I, et al.
Haemophilia
. 2022 Apr;
28(5):822-831.
PMID: 35488806
Introduction: The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are...
9.
Foy M, de Mazancourt P, Metay C, Carlier R, Allamand V, Gartioux C, et al.
Clin Case Rep
. 2021 Sep;
9(9):e04128.
PMID: 34484741
-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient...
10.
Ogouma-Aworet L, Rabes J, de Mazancourt P
Biomed Res Int
. 2021 Jan;
2020:9396318.
PMID: 33457423
Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron absorption and can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma. The most...