Sophie Deveaux
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Explore the profile of Sophie Deveaux including associated specialties, affiliations and a list of published articles.
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9
Citations
254
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Recent Articles
1.
Sebai M, Tulasne D, Caputo S, Verkarre V, Fernandes M, Guerin C, et al.
Hum Mutat
. 2021 Dec;
43(3):316-327.
PMID: 34882875
Hereditary papillary renal cell carcinoma (HPRC) is a rare inherited renal cancer syndrome characterized by bilateral and multifocal papillary type 1 renal tumors (PRCC1). Activating germline pathogenic variants of the ...
2.
Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, et al.
Blood
. 2018 Jun;
132(5):469-483.
PMID: 29891534
Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau () gene. Since this discovery, additional mutations have been identified in...
3.
Muller M, Guillaud-Bataille M, Salleron J, Genestie C, Deveaux S, Slama A, et al.
Mod Pathol
. 2018 Feb;
31(6):974-983.
PMID: 29410489
Hereditary leiomyomatosis and renal cell carcinoma syndrome is characterized by an increased risk of agressive renal cell carcinoma, often of type 2 papillary histology, and is caused by FH germline...
4.
Oudard S, Elaidi R, Brizard M, Le Rest C, Caillet V, Deveaux S, et al.
Oncotarget
. 2016 Nov;
7(51):85306-85317.
PMID: 27852035
Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes affected individuals to the development of multiple benign and malignant tumors. One of the main manifestations of...
5.
Benusiglio P, Couve S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, et al.
J Med Genet
. 2015 Apr;
52(6):426-30.
PMID: 25911086
Background: Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still unidentified genes involved...
6.
Benusiglio P, Giraud S, Deveaux S, Mejean A, Correas J, Joly D, et al.
Orphanet J Rare Dis
. 2014 Dec;
9:163.
PMID: 25519458
Background: The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. Our...
7.
Joly D, Mejean A, Correas J, Timsit M, Verkarre V, Deveaux S, et al.
J Urol
. 2011 Apr;
185(6):2056-60.
PMID: 21496837
Purpose: Patients with von Hippel-Lindau disease frequently have early, multiple and recurrent renal cell carcinoma. Renal cell carcinoma treatment, which must prevent metastatic disease and spare nephrons, has changed in...
8.
Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefevre S, Perrier-Trudova V, et al.
J Med Genet
. 2011 Mar;
48(4):226-34.
PMID: 21398687
Background: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell...
9.
Gottgens B, Broccardo C, Sanchez M, Deveaux S, Murphy G, Gothert J, et al.
Mol Cell Biol
. 2004 Feb;
24(5):1870-83.
PMID: 14966269
Analysis of cis-regulatory elements is central to understanding the genomic program for development. The scl/tal-1 transcription factor is essential for lineage commitment to blood cell formation and previous studies identified...