📇 Rhumatologue · PARIS CEDEX 14 · (75) · Hospitalier

MME GEORGIA MALAMUT

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4 raisons identifiées

Plateau technique de référence
Assistance publique – Hôpitaux de Paris (APHP) — équipements et expertise pointus pour les cas complexes
Auteur de référence en rhumatologie
50 articles scientifiques publiés — un praticien à la pointe de la recherche
Encadrant universitaire
Forme la prochaine génération de rhumatologues (2 thèses dirigées)
Délais de RDV courts dans la région
336.2 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 PARIS CEDEX 14 (75)HospitalierRPPS 10001615680

Enseignement

🇫🇷 Publications académiques françaises (8)🎓 2 thèses dirigées

✨ Génération du profil synthétique IA en cours…

Direction de thèses

🎓 2 thèses dirigées

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Interleukin-15-Dependent T-Cell-like Innate Intraepithelial Lymphocytes Develop in the Intestine and Transform into Lymphomas in Celiac Disease

Immunity · 2016

📚 125 citations🎯 RCR 3.72Top 12% NIH🔓 Open Access📄 PDF gratuit ↗

Methotrexate Is Not Superior to Placebo for Inducing Steroid-Free Remission, but Induces Steroid-Free Clinical Remission in a Larger Proportion of Patients With Ulcerative Colitis

Gastroenterology · 2016

📚 106 citations🎯 RCR 4.98Top 8% NIH🩺 Clinique🔓 Open Access📄 PDF gratuit ↗

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Journal of Crohn's & colitis · 2018

📚 76 citations🎯 RCR 2.81Top 18% NIH🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

Abstract Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

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MME GEORGIA MALAMUT

Pourquoi vous devez consulter ce praticien

Direction de thèses

Publications académiques en France

Lieu de consultation

Tarifs & secteur de conventionnement

Prendre rendez-vous & contact

Top publications · les plus citées

Publications scientifiques (50) — classées par pathologie

Transversal37

Anti-TNF3

Épidémiologie & registres2

Biomarqueurs / Auto-Ac1

csDMARDs1

Économie santé1

Essai clinique1

Génétique1

Microbiote1

Pharmacovigilance1

Recommandations1

Revue générale1

Vraie vie / RWE1

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