about
IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production.Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.Finger creases lend a hand in Kabuki syndrome.NLRP1 mutations cause autoinflammatory diseases in human.OR10-002 - A novel TNFR1 transcript of TRAPS gene.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.[Kabuki syndrome: Update and review].Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing.Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?Anatomical and functional abnormalities on MRI in kabuki syndrome.LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sistersReport on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupImmunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Elodie Sanchez
@en
Elodie Sanchez
@nl
type
label
Elodie Sanchez
@en
Elodie Sanchez
@nl
prefLabel
Elodie Sanchez
@en
Elodie Sanchez
@nl
P31
P496
0000-0002-4776-9269