Sylvie Bourthoumieu
Overview
Explore the profile of Sylvie Bourthoumieu including associated specialties, affiliations and a list of published articles.
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40
Citations
251
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Recent Articles
1.
Cuinat S, Quelin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour A, et al.
J Med Genet
. 2024 Jun;
61(9):824-832.
PMID: 38849204
Introduction: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. Method: After the antenatal...
2.
Bernard A, Mroue M, Bourthoumieu S, Boyce M, Richard L, Sturtz F, et al.
Pharmaceuticals (Basel)
. 2024 Feb;
17(2).
PMID: 38399359
Among the vinca-alkaloid class, vincristine is a potent chemotherapeutic agent with significant neurotoxic effects and is employed to address a wide spectrum of cancer types. Recently, the therapeutic potential of...
3.
Mroue M, Bessaguet F, Nizou A, Richard L, Sturtz F, Magy L, et al.
Pharmaceutics
. 2024 Jan;
16(1).
PMID: 38276509
The occurrence of neuropathic pain in chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting effect of many commonly-used anticancer agents. Polyvalent human immunoglobulins (hIg), used in the treatment of several...
4.
Perani A, Bourthoumieu S, Rizzo D, Chauzeix J, Dauriat B, Turlure P, et al.
Front Oncol
. 2023 Mar;
13:1120829.
PMID: 36923434
Background: Predisposition to myeloid malignancies is a field at the border of hematology and genetics. Knowledge in this domain has so rapidly increased that WHO defined in 2016 the new...
5.
Salle H, Durand S, Durand K, Bourthoumieu S, Lemnos L, Robert S, et al.
J Neuropathol Exp Neurol
. 2023 Feb;
82(4):312-323.
PMID: 36779322
Chordomas are rare tumors of the axial skeleton that are refractory to conventional therapy. Few studies have compared the morphological and molecular characteristics of chordomas according to the skull base...
6.
Bernard A, Danigo A, Mroue M, Rovini A, Richard L, Nizou A, et al.
Pharmaceutics
. 2022 Dec;
14(12).
PMID: 36559317
Vincristine (VCR) is responsible for the onset of the VCR-induced peripheral neuropathy (VIPN), associated with neuropathic pain. Several reports have strongly linked the cholecystokinin type 2 receptor (CCK2R) to nociceptive...
7.
Boutot M, Yardin C, Martin R, Bourthoumieu S, Aubard V, Martin S, et al.
J Gynecol Obstet Hum Reprod
. 2022 Oct;
51(10):102482.
PMID: 36210052
Introduction: Increased fetal nuchal translucency is associated with chromosomal as well as morphological abnormalities. The psychomotor development of children from these pregnancies is still unclear. The main objective of our...
8.
Testard Q, Vanhoye X, Yauy K, Naud M, Vieville G, Rousseau F, et al.
J Med Genet
. 2022 Sep;
59(12):1234-1240.
PMID: 36137615
Background: Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number...
9.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, et al.
Neurol Sci
. 2022 Aug;
43(11):6517-6527.
PMID: 35925454
AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides. Less than thirty cases are referenced in the literature, and to date,...
10.
Bouchenaki H, Bernard A, Bessaguet F, Frachet S, Richard L, Sturtz F, et al.
Pharmaceutics
. 2022 Apr;
14(4).
PMID: 35456682
Paclitaxel (PTX)-induced peripheral neuropathy (PIPN) induces numerous symptoms affecting patient quality of life, leading to decreased doses or even to cessation of anticancer therapy. Previous studies have reported that a...