0000000000354442

AUTHOR

Isabelle Touitou

showing 2 related works from this author

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

2017

IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…

0301 basic medicineMaleAdolescentVisual impairmentDNA Mutational AnalysisIntelligenceneuropsychologyDisease[SDV.GEN] Life Sciences [q-bio]/GeneticsNeuropsychological Testsgenotype-phenotype correlation03 medical and health sciencesIntensive careIntellectual disabilityGene OrderGeneticsmedicineHumansAbnormalities MultipleChildKMT2D mutationGenetics (clinical)AllelesGenetic Association Studies[SDV.GEN]Life Sciences [q-bio]/GeneticsKabuki syndromebusiness.industryWorking memoryNeuropsychologyWechsler Adult Intelligence Scalemedicine.diseaseHematologic Diseases3. Good healthNeoplasm ProteinsDNA-Binding Proteins030104 developmental biologyPhenotypeVestibular DiseasesGenetic LociFaceMutationFemalemedicine.symptombusinessKabuki syndromeClinical psychology
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INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

2021

Contains fulltext : 231528.pdf (Publisher’s version ) (Closed access) 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 lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classifica…

medicine.medical_specialtyAbdominal painAutoinflammatory diseasesGroup AGroup BAA amyloidosis Anakinra Autoinflammatory diseases Colchicine TRAPS Abdominal Pain Colchicine FemaleHumans Mutation Registries Hereditary Autoinflammatory Diseases03 medical and health sciences0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaAA amyloidosisTNF receptor-associated periodic syndrome (TRAPS) ; TNFRSF1A geneInternal medicinemedicineAA amyloidosisHumansImmunology and AllergyIn patientRegistries030212 general & internal medicineLikely pathogenicAnakinrabusiness.industryHereditary Autoinflammatory DiseasesTRAPSmedicine.diseaseAbdominal PainAnakinra030228 respiratory systemTNF receptor associated periodic syndromeMutationFemalemedicine.symptombusinessColchicineAA amyloidosis; Anakinra; Autoinflammatory diseases; Colchicine; TRAPSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.drug
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