Isabelle Touitou
Overview
Explore the profile of Isabelle Touitou including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
121
Citations
2553
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Kozycki C, Kodati S, Huryn L, Wang H, Warner B, Jani P, et al.
Ann Rheum Dis
. 2022 Jul;
81(10):1453-1464.
PMID: 35868845
Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in , is an autoinflammatory disease. Methods: This cohort...
12.
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus
Slim R, Fisher R, Milhavet F, Hemida R, Rojas S, Rittore C, et al.
Hum Mutat
. 2022 Jul;
43(12):1732-1744.
PMID: 35842788
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive growth of placental trophoblasts and abnormal early embryonic development. Following a first such abnormal pregnancy, the risk for women...
13.
Touitou I
Genes Dis
. 2022 Jun;
9(4):1000-1007.
PMID: 35685471
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (). Their clinical manifestations are highly variable, ranging...
14.
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulie N, Guichard I, et al.
Semin Arthritis Rheum
. 2021 Sep;
51(6):1170-1179.
PMID: 34571400
Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease usually presenting before the age of 10 years. Non-specific clinical features or late-onset presentation may delay its diagnosis...
15.
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I
J Clin Med
. 2021 Apr;
10(8).
PMID: 33917151
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene () and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a...
16.
Rittore C, Mechin D, Sanchez E, Marineche L, Ea V, Soler S, et al.
Sci Rep
. 2021 Feb;
11(1):4172.
PMID: 33603056
Binding of tumour necrosis factor α (TNFα) to its receptor (TNFR1) is critical for both survival and death cellular pathways. TNFα/TNFR1 signalling is complex and tightly regulated at different levels...
17.
Mechin D, Durinikova A, Boursier G, Andre M, Touitou I, Sarrabay G
Clin Exp Rheumatol
. 2020 Dec;
38 Suppl 127(5):129-130.
PMID: 33331269
No abstract available.
18.
Boleto G, El Chamieh C, Biard L, Kone-Paut I, Hentgen V, Boursier G, et al.
Ann Rheum Dis
. 2020 Dec;
82(10):e218.
PMID: 33298408
No abstract available.
19.
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases
Boursier G, Piram M, Rittore C, Sarrabay G, Touitou I
J Invest Dermatol
. 2020 Nov;
141(5):1141-1147.
PMID: 33218716
Pathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is...
20.
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, et al.
J Allergy Clin Immunol Pract
. 2020 Nov;
9(2):783-791.e4.
PMID: 33181346
Background: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are...