Les anévrysmes et dissections héréditaires de l’aorte ascendante. Aspects physiopathologiques, cliniques, syndromologie et classification

Autor: Albuisson, J., Legrand, A., Billon, C., Mazzella, J.-M., Frank, M., Adham, S., Jeunemaitre, X.

Publikováno v: In Bulletin de l'Académie Nationale de Médecine October 2020 204(8):806-816

Should We Perform an Immediate Coronary Angiogram in All Patients After Cardiac Arrest?: Insights From a Large French Registry

Autor: Adnet, F., Agostinucci, J.M., Aissaoui-Balanant, N., Albuisson, J., Algalarrondo, V., Alla, F., Annane, D., Antoine, C., Aubry, P., Azoulay, E., Beganton, F., Benhamou, D., Bougouin, W., Bruel, C., Cariou, A., Carli, P., Cerf, C., Chaib, A., Chastre, J., Cohen, Y., Combes, A., Cornaglia, C., Da Silva, D., Das, V., Demoule, A., Deye, N., Dhonneur, G., Diehl, J.L., Dinanian, S., Domanski, L., Dreyfuss, D., Duboc, D., Dubois-Rande, J.L., Dubourg, O., Duchateau, F.X., Dumas, F., Empana, J.P., Extramiana, F., Fagon, J.Y., Fartoukh, M., Fenioux, C., Fieux, F., Fraisse, F., Gabbas, M., Gandjbakhch, E., Guidet, B., Henry, P., Hidden Lucet, F., Jabre, P., Jacob, L., Joseph, L., Jost, D., Journois, D., Jouven, X., Karam, N., Kassim, H., Lahlou-Laforet, K., Lamhaut, L., Lanceleur, A., Langeron, O., Lanoe, V., Lecarpentier, E., Leenhardt, A., Lellouche, N., Lemiale, V., Linval, F., Loeb, T., Ludes, B., Maltret, A., Mansouri, N., Mantz, J., Marijon, E., Marty, J., Maury, E., Maxime, V., Mekontso-Dessaps, A., Mira, J.P., Monnet, X., Perier, M.C., Piot, O., Pirraccchio, R., Plu, I., Raux, M., Revaux, F., Ricard, J.D., Richard, C., Riou, B., Roussin, F., Santoli, F., Schortgen, F., Sharshar, T., Sideris, G., Spaulding, C., Teboul, J.L., Timsit, J.F., Tourtier, J.P., Tuppin, P., Ursat, C., Varenne, O., Vieillard-Baron, A., Voicu, S., Wahbi, K., Bougouin, Wulfran, Dumas, Florence, Karam, Nicole, Maupain, Carole, Marijon, Eloi, Lamhaut, Lionel, Jost, Daniel, Geri, Guillaume, Beganton, Frankie, Varenne, Olivier, Spaulding, Christian, Jouven, Xavier, Cariou, Alain

Publikováno v: In JACC: Cardiovascular Interventions 12 February 2018 11(3):249-256

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Autor: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

Publikováno v: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

Autor: Luyckx, I, Kumar, AA, Reyniers, E, Dekeyser, E, Vanderstraeten, K, Vandeweyer, G, Wunnemann, F, Preuss, C, Mazzella, JM, Goudot, G, Messas, E, Albuisson, J, Jeunemaitre, X, Eriksson, P, Mohamed, SA, Kempers, M, Salemink, S, Duijnhouwer, A, Andelfinger, G, Dietz, HC, Verstraeten, A (Aline), Van Laer, L, Loeys, BL, Zhurayev, R, Zerbino, D, Mital, S, Mertens, L, Franco-Cereceda, A, Verhagen, Judith, De Graaf - van de Laar, Ingrid, Wessels, Marja, Nemcikova, M, Krebsova, A

Publikováno v: European Journal of Human Genetics, 27(7), 1033-1043. Nature Publishing Group
European journal of human genetics
European Journal of Human Genetics, 27, 1033-1043
European Journal of Human Genetics, 27, 7, pp. 1033-1043
European Journal of Human Genetics
European Journal of Human Genetics, 2019, 27, pp.1033-1043. ⟨10.1038/s41431-019-0364-y⟩
Eur J Hum Genet

International audience; Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1-2% of the population. BAV is associated with thoracic aortic aneurysms (TAAs). Deleterious copy number variations (CNVs) were found prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44311eee6c8e75e29926e7a98687a6f7
https://doi.org/10.1038/s41431-019-0364-y

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern

Autor: Evain, S., Briec, F., Kyndt, F., Schott, J.J., Lande, G., Albuisson, J., Abbey, S., Le Marec, H., Probst, V.

Publikováno v: In Heart Rhythm 2008 5(11):1561-1564