about
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyADA2 deficiency: case report of a new phenotype and novel mutation in two sistersExpanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic OriginCirculating miRNA-125b is a potential biomarker predicting response to rituximab in rheumatoid arthritisAdult onset Still's disease (AOSD) in the era of biologic therapies: dichotomous view for cytokine and clinical expressions.Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.The autoinflammatory diseases: a fashion with blurred boundaries!Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.Discordant sex in monozygotic XXY/XX twins: a case report.A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.[Mevalonate kinase deficiency in 2016].International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients.Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.Criteria for CAPS, is it all in the name?Second tyrosine kinase inhibitor discontinuation attempt in patients with chronic myeloid leukemia.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.Typical facial gestalt in X-linked Kabuki syndrome.[Kabuki syndrome: Update and review].Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi studyThe Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable HeredityChronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentationMosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic reviewHow to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseasesConfirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counselingTNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literatureDominant familial Mediterranean fever
P50
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P50
description
investigador
@es
researcher
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wetenschapper
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name
Isabelle Touitou
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Isabelle Touitou
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type
label
Isabelle Touitou
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Isabelle Touitou
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prefLabel
Isabelle Touitou
@en
Isabelle Touitou
@nl
P31
P496
0000-0002-5171-1000