📇 Rhumatologue ·
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2 raisons identifiées
Auteur de référence en rhumatologie
24 articles scientifiques publiés — un praticien à la pointe de la recherche
Référence presse grand public
Cité 6 fois dans les médias — pédagogie reconnue
✨ Génération du profil synthétique IA en cours…
Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).
Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.
Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Source : Google News (recherche par nom complet — homonymes possibles, vérifier le contenu).
📰 France 3 Régions · 06/01/2025
<a href="https://news.google.com/rss/articles/CBMi-gFBVV95cUxORHRXaHltOHVaX0ktUmtYUEgwSi1JVUFuZWl2NUZmMEtMYmVuOVVEdG4tMjkyMGlkbjJieXJWdTRfZUQwaFNGVXZIb3Q5QkFqNzhfSGtaVl8ybjVOTXJkbmpvV1phcXJaeFJka0szNzlRN210RzRlWkl3eE1uRmMyVXpZanB4TnFWd1R2UVBrWVhla2tOYVlPbVFoSW5OblNXTmN4OVJFQnd6UUViRlVfQzlfbzdXenhmS2
📰 ici.fr · 11/12/2023
<a href="https://news.google.com/rss/articles/CBMiqwJBVV95cUxPTi1TWkJycGJPeUxRUjZSMHo3TWdvQzg1enZZSkJpQlpjUnJmTjdYQTZJaDZvSDg1c3RQQ194STNDUmRFMjRnbWMxa3BMRklPcVh6aHlmZkNzTjY0M0ZxQ2N0d2FtTEZ3TnVyQ05Zc3ZPWVJjN0pob2pNLVBRdm44cUhsOFFNVWpUVXZRUkFmU0JZSkNhNWVESU9FUVZMeFg4VzY1VHFUeVFjZ1pzc2Fld18xSHJpSklUTU
📰 L'Union · 24/05/2023
<a href="https://news.google.com/rss/articles/CBMinAFBVV95cUxNSkVsRVJhUm5ELTJBcGFtWnNtbHpYaDV0Ny1FVGI4UjNxUHNaSncwRTgtMmtqTVRfUm5ScnpFTnZLdlR5STRhQXllTjZEU2hoUjM1WnE2d3d2cV9OSzMyTjhWTTZuVVJ0eFA2YllZMTdCaWhuREwtanBwb0NHc0d0M21QcktaWms1VktQOUNQY3lsdFc5UzFoTFZKclo?oc=5" target="_blank">En pleine ville,
📰 France 3 Régions · 13/04/2022
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📰 L'Union · 20/05/2021
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📰 France 3 Régions · 11/12/2020
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Stroke · 2026
BACKGROUND: Cerebral small vessel disease (CSVD) is a major cause of stroke and vascular cognitive impairment, yet its mechanisms remain incompletely understood. While heterozygous point mutations in COL4A1 and COL4A2 are established monogenic cause of CSVD, the contribution of copy number gains involving these 2 genes has only recently been recognized. We aimed to define the clinical and radiological spectrum of COL4A1/2 duplications and triplications in adults. METHODS: We report 7 adult probands carrying duplications or triplications of COL4A1 and COL4A2 , in whom no pathogenic variants were identified in other known CSVD genes. Targeted high-throughput sequencing, quantitative multiplex polymerase chain reaction of short fluorescent fragments, and SNP arrays were used to confirm and characterize genomic rearrangements spanning the 13q33q34 region. RESULTS: Genomic rearrangements ranged from 328 kb to 11.8 Mb, involving complete or partial duplication/triplication of COL4A1/2 . Patients presented heterogeneous cerebrovascular manifestations, including ischemic and hemorrhagic events, motor impairment, and cognitive decline. Brain magnetic resonance imaging consistently showed extensive white matter hyperintensities, lacunes (particularly in the pons), microbleeds, and, in some cases, saccular aneurysms or arterial dolichoectasia. Only 2 probands had a positive family history of CSVD. CONCLUSIONS: This large series confirms the pathogenicity of COL4A1/2 duplications and triplications in adult-onset CSVD. Phenotypic variability likely reflects differences in duplication/triplication size, gene content, and modifying factors. Our findings highlight a distinct cerebral-only phenotype linked to gene dosage–related overexpression and underscore the importance of screening for copy number variations in patients with otherwise unexplained cerebral microangiopathy, even in the absence of a family history.
The French journal of urology · 2026
iScience · 2026
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, et al.
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, et al.
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, et al.
Autonomic neuroscience : basic & clinical · 2026 · Journal Article
Van de Steen L, Van den Ende M, Bou Kheir G, Weiss J, et al.
Physical review letters · 2026 · Journal Article
Chekhovsky V, Hayrapetyan A, Makarenko V, Tumasyan A, et al.
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, et al.
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, et al.
Physical review letters · 2026 · Journal Article
Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, et al.
Physical review letters · 2025 · Journal Article
Chekhovsky V, Hayrapetyan A, Makarenko V, Tumasyan A, et al.
Physical review letters · 2025 · Journal Article
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, et al.
The French journal of urology · 2026 · Journal Article
Augustin Z, Victor G, Roberto-Luigi C, Thibault T, et al.
AJNR. American journal of neuroradiology · 2026 · Journal Article
Pyatigorskaya N, Boughdad S, Bera G, Giron A, et al.
The French journal of urology · 2026 · Journal Article
Richard C, Cornu JN, Thuillier C, Brandon C, et al.
Stroke · 2026 · Journal Article
Zhang R, Chen CH, Lambert L, Cheng YW, et al.
Scientific reports · 2026 · Journal Article
Cedric Y, Diomède N, Hervé MM, Pacome TK, et al.
Stroke · 2026 · Journal Article
Hervé D, Lesnik Oberstein SAJ, Pipiras E, Kittner SJ, et al.
Methods in molecular biology (Clifton, N.J.) · 2026 · Journal Article
Arnould K, El Kadri M, Hervé P, Asencio C, et al.
Environmental microbiology · 2025 · Journal Article
Tabuteau S, Hervé V, Irlinger F, Monnet C
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver · 2026 · Journal Article
Camilleri GM, Loriot MA, Teuff GL, Thuillier F, et al.
EClinicalMedicine · 2026 · Journal Article
Chabriat H, Biard L, Guey S, Alili N, et al.
Annals of intensive care · 2026 · Journal Article
Bordeau L, Seegers V, Demiselle J, Schortgen F, et al.
Geriatrie et psychologie neuropsychiatrie du vieillissement · 2025 · English Abstract
Carcreff L, Noublanche F, Hajjam M, Le Floc'h M, et al.
Autonomic neuroscience : basic & clinical · 2026 · Journal Article
Van de Steen L, Van den Ende M, Bou Kheir G, Weiss J, et al.
European urology focus · 2026 · Journal Article
Hervé F
iScience · 2026 · Journal Article
Yuan R, Roze E, Doulazmi M, Dubacq C, et al.