Francoise Le Deist
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Explore the profile of Francoise Le Deist including associated specialties, affiliations and a list of published articles.
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95
Citations
4972
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Recent Articles
1.
Nguyen T, Murakami Y, Wigby K, Baratang N, Rousseau J, St-Denis A, et al.
Am J Hum Genet
. 2018 Oct;
103(4):602-611.
PMID: 30269814
Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs...
2.
Nguyen T, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, et al.
Am J Hum Genet
. 2017 Nov;
101(5):856-865.
PMID: 29100095
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To...
3.
Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, et al.
J Bone Miner Res
. 2017 May;
32(9):1853-1859.
PMID: 28543917
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG...
4.
Johnstone D, Nguyen T, Murakami Y, Kernohan K, Tetreault M, Goldsmith C, et al.
Hum Mol Genet
. 2017 Mar;
26(9):1706-1715.
PMID: 28334793
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly...
5.
Edvardson S, Murakami Y, Nguyen T, Shahrour M, St-Denis A, Shaag A, et al.
J Med Genet
. 2016 Oct;
54(3):196-201.
PMID: 27694521
Background: Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search for disease causing genes using homozygosity mapping was...
6.
Selleri S, Bifsha P, Civini S, Pacelli C, Dieng M, Lemieux W, et al.
Oncotarget
. 2016 Apr;
7(21):30193-210.
PMID: 27070086
Human mesenchymal stromal cells (MSC) have been shown to dampen immune response and promote tissue repair, but the underlying mechanisms are still under investigation. Herein, we demonstrate that umbilical cord-derived...
7.
Li Q, Lee C, Peters L, Mastropaolo L, Thoeni C, Elkadri A, et al.
Gastroenterology
. 2016 Feb;
150(5):1196-1207.
PMID: 26836588
Background & Aims: Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES)...
8.
Payette A, Patey N, Dragon-Durey M, Fremeaux-Bacchi V, Le Deist F, Lapeyraque A
Pediatr Nephrol
. 2015 Mar;
30(6):1033-7.
PMID: 25796589
Background: C3 glomerulonephritis (C3GN) is a rare form of glomerulopathy that is characterized by predominant C3 deposits. Eculizumab, a humanized monoclonal C5 antibody, has recently emerged as a treatment option...
9.
Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E, et al.
Medicine (Baltimore)
. 2014 Dec;
93(29):e327.
PMID: 25546680
Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain-7A (TTC7A) gene...
10.
Charrier E, Cordeiro P, Brito R, Harnois M, Mezziani S, Herblot S, et al.
Biol Blood Marrow Transplant
. 2014 Aug;
20(10):1501-7.
PMID: 25128615
Plasmacytoid dendritic cells (pDCs) initiate both innate and adaptive immune responses, making them attractive targets for post-transplantation immunotherapy, particularly after cord blood transplantation (CBT). Toll-like receptor (TLR) agonists are currently...