List of works - Elodie Sanchez

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

scientific article published on 13 December 2016

Anatomical and functional abnormalities on MRI in kabuki syndrome.

scientific article

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

scientific article published on 6 March 2014

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

scientific article published on 3 August 2017

Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

scientific article published on 14 January 2017

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

scientific article published on 16 October 2013

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

scientific article published on 15 May 2013

Finger creases lend a hand in Kabuki syndrome.

scientific article

IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production

scientific article published on 4 August 2015

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene. ⬇️

scientific article published on 16 March 2013

Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing.

scientific article

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Kabuki syndrome: Update and review

scientific article

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

scientific article published on 10 July 2018

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

scientific article

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

scientific article published on 15 June 2016

NLRP1 mutations cause autoinflammatory diseases in human.

scientific article published on 28 September 2015

OR10-002 - A novel TNFR1 transcript of TRAPS gene.

scientific article

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

scientific article published on 08 July 2019

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

scientific article published on 10 April 2013

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

List of works by Elodie Sanchez

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)?

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Finger creases lend a hand in Kabuki syndrome.

IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine production

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene. ⬇️

Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Kabuki syndrome: Update and review

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

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

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

NLRP1 mutations cause autoinflammatory diseases in human.

OR10-002 - A novel TNFR1 transcript of TRAPS gene.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.