Kolexia
Giurgea Irina-Ioana
Génétique médicale
Hôpital Armand Trousseau
Paris, France
83 Activités
0 Followers

Scientifique
Digital
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Expertise
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{{person.topmesh1.name}} Fièvre Fièvre méditerranéenne familiale Déficience intellectuelle Faciès Brucellose Amyloïdose Maladie de Hirschsprung Inflammation Microcéphalie

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Dernières activités

SAIDiag: Molecular Diagnosis of Systemic Autoinflammatory Diseases
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   30 janvier 2024
A critical region of A20 unveiled by missense variations that lead to autoinflammation.
eLife   21 juin 2023
Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives.
Biochemical pharmacology   05 mai 2023
A novel, recurrent TCF4 missense variant causes non-specific intellectual disability without Pitt-Hopkins syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
French practical guidelines for the diagnosis and management of AA amyloidosis.
La Revue de medecine interne   23 janvier 2023
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Arthritis & rheumatology (Hoboken, N.J.)   28 décembre 2022
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Rheumatology (Oxford, England)   27 décembre 2022
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rheumatology (Oxford, England)   01 décembre 2022
Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis.
Scientific reports   05 octobre 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clinical genetics   16 août 2022