C. Louvrier

发表

Mosaic variants in TNFRSF1A: An emerging cause of tumor necrosis factor receptor-associated periodic syndrome.

S. Amselem, B. Copin, M. Legendre, 2022, Rheumatology.

[Clinical overview of auto-inflammatory diseases].

B. Bader-Meunier, A. Belot, I. Melki, 2018, La Revue de medecine interne.

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

M. Till, G. Lesca, D. Sanlaville, 2015, American journal of medical genetics. Part A.

NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations.

S. Amselem, I. Melki, B. Copin, 2019, The Journal of allergy and clinical immunology.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

E. Pasmant, M. Vidaud, D. Vidaud, 2018, Neuro-oncology.

SMARCB1 Deficiency in Tumors From the Peripheral Nervous System: A Link Between Schwannomas and Rhabdoid Tumors?

O. Delattre, H. Brisse, A. Nicolas, 2012, The American journal of surgical pathology.

Photoaging and skin cancer: Is the inflammasome the missing link?

S. Amselem, S. Karabina, I. Giurgea, 2018, Mechanisms of Ageing and Development.

Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.

S. Amselem, B. Copin, E. El Khouri, 2020, The Journal of investigative dermatology.

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

S. Amselem, Lucie Thomas, P. Duquesnoy, 2017, PloS one.

The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

S. Amselem, B. Copin, S. Chantot-Bastaraud, 2019, ACR open rheumatology.

Inflammasome biology, molecular pathology and therapeutic implications

S. Amselem, S. Georgin-lavialle, S. Karabina, 2018, Pharmacology & therapeutics.

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.

M. Vidaud, I. Laurendeau, D. Vidaud, 2015, Neuro-Chirurgie.

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy Neurofibromatose de type 2 : analyse de la cohorte francaise par une stratégie exhaustive d'analyse moléculaire du gène NF2

D. Vidaud, B. Parfait, A. Luscan, 2015 .

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7

V. des Portes, S. Gazzo, E. Callet‐Bauchu, 2015, Cytogenetic and Genome Research.

De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder

S. Amselem, P. Quartier, B. Copin, 2022, Arthritis & rheumatology.

Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

S. Amselem, D. Boutboul, S. Georgin-lavialle, 2019, The Journal of Rheumatology.

Absence of NLRP3 somatic mutations and VEXAS‐related UBA1 mutations in a large cohort of patients with Schnitzler syndrome

D. Lipsker, S. Amselem, I. Giurgea, 2022, Allergy. European Journal of Allergy and Clinical Immunology.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

S. Amselem, A. Aouba, B. Copin, 2023, eLife.

Identification of an A20 critical region harboring missense variations that lead to autoinflammation

S. Amselem, A. Aouba, B. Copin, 2022, bioRxiv.

RNF213-associated urticarial lesions with hypercytokinemia.

S. Amselem, O. Chosidow, P. de la Grange, 2022, The Journal of allergy and clinical immunology.