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Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

Annals of the rheumatic diseases, 2011-03, Vol.70 (3), p.495-499

2011

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The regulation of MEFV expression and its role in health and familial Mediterranean fever

Genes and immunity, 2011-10, Vol.12 (7), p.497-503

2011

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Mutations in NALP12 cause hereditary periodic fever syndromes

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (5), p.1614-1619

2008

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Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Orphanet journal of rare diseases, 2022-04, Vol.17 (Suppl 1), p.170-170, Article 170

2022

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Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation

Clinical immunology (Orlando, Fla.), 2013-08, Vol.148 (2), p.299-300

2013

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Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failure

Nephrology, dialysis, transplantation, 2012-05, Vol.27 (5), p.1898-1901

2012

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VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S112

2022

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Inflammasome and interleukin 1

La revue de medecine interne, 2011-04, Vol.32 (4), p.218-224

2011

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Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

Journal of medical genetics, 2004-03, Vol.41 (3), p.e24-24

2004

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The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65

The Journal of biological chemistry, 2003-12, Vol.278 (49), p.48839-48847

2003

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PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A85-A85, Article A85

2013

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Diabète lipodystrophique, infertilité et mortalité prématurée : expression phénotypique familiale d’un variant hétérozygote du gène ZMPSTE24

Annales d'endocrinologie, 2024-10, Vol.85 (5), p.504-504

2024

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A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features

Pediatric rheumatology online journal, 2015-09, Vol.13 (99), p.P68-P68, Article P68

2015

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PW01-022 – Dissociation between CRP and SAA in FMF

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A75-A75, Article A75

2013

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The role of zinc in the appearance of cataract

Oftalmologia (Bucharest, Romania : 1990), 1997, Vol.41 (4), p.329

Jeru, I

1997

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Rationale and efficacy of interleukin-1 targeting in pediatric Erdheim- Chester disease

Pediatric rheumatology online journal, 2011-09, Vol.9 (S1), p.P67-P67, Article P67

2011

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Conséquences des variants pathogènes de PPARG responsables de lipodystrophie familiale partielle de type 3 (FPLD3) sur le déroulement de la grossesse et le développement in utero

Annales d'endocrinologie, 2020-09, Vol.81 (4), p.204-204

2020

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P.172 - Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S148-S148

2017

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Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S148

2017

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Inflammasome et interleulcine 1

La revue de medecine interne, 2011, Vol.32 (4), p.218-224

2011

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Leptin, adiponectin, lipodystrophic and severe insulin resistance syndromes

Annales de biologie clinique (Paris), 2020-06, Vol.78 (3), p.261

2020

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Biochemical aspects in the pathogenesis of senile cataract

Oftalmologia (Bucharest, Romania : 1990), 1997, Vol.41 (3), p.207

1997

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The treatment of penetrating eye injuries

Oftalmologia (Bucharest, Romania : 1990), 1997, Vol.41 (3), p.245

1997

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The characteristics of the pathogenesis and immunomodulator treatment in the postoperative period in pseudophakia patients

Oftalmologia (Bucharest, Romania : 1990), 1996-07, Vol.40 (3), p.210

1996

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Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

The regulation of MEFV expression and its role in health and familial Mediterranean fever

Mutations in NALP12 cause hereditary periodic fever syndromes

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation

Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failure

VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France

Inflammasome and interleukin 1

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network

PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Diabète lipodystrophique, infertilité et mortalité prématurée : expression phénotypique familiale d’un variant hétérozygote du gène ZMPSTE24

A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features

PW01-022 – Dissociation between CRP and SAA in FMF

The role of zinc in the appearance of cataract

Rationale and efficacy of interleukin-1 targeting in pediatric Erdheim- Chester disease

Conséquences des variants pathogènes de PPARG responsables de lipodystrophie familiale partielle de type 3 (FPLD3) sur le déroulement de la grossesse et le développement in utero

P.172 - Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

Inflammasome et interleulcine 1

Leptin, adiponectin, lipodystrophic and severe insulin resistance syndromes

Biochemical aspects in the pathogenesis of senile cataract

The treatment of penetrating eye injuries

The characteristics of the pathogenesis and immunomodulator treatment in the postoperative period in pseudophakia patients

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