Search

Your search keyword '"Maillard, L"' showing total 654 results
Start Over Author "Maillard, L"
654 results on '"Maillard, L"'

4. Unpacking "Social Vulnerability" and "Equity": Critical Insights From Stormwater Climate Adaptation Research in the US Gulf Coast.

Author

Domingue, S. J., Goto, E., Maillard, L., Harrison, T., and Basaraba, A.

Subjects
CLIMATE change adaptation, CLIMATE change, SMALL cities, CRITICAL thinking, CLIMATE research
Abstract

This paper assesses how the concepts of social vulnerability and equity are discursively constructed in co‐production research settings with a co‐created decision support tool. The data was collected during workshops (32 communities represented) and interviews (24 communities represented) with stormwater managers and stakeholders (SMS) working in small cities, counties/parishes, and villages and towns within 100 miles of the US Gulf Coast. Findings from participant observation of workshops show that SMS express similar viewpoints regarding indicators of social vulnerability to climate‐related hazards, often defining vulnerable people as less physically mobile or as having few monetary resources. Individuals articulated "community" through a lens of homeownership and often described their relationship to residents as strained. Findings from interviews reveal divergent viewpoints on the imperative and rationale for integrating social vulnerability data into stormwater assessments and planning. Interviews also generated more critical reflection than was present in workshops regarding racial disparities in flood hazard exposure. A key insight from this article is that tools and team composition matter but there is nuance in the degree to which they matter considering a range of contextual factors. The article argues that co‐production teams must plan for alternatives and different scenarios given the messiness of co‐production in practice and that research is needed to reveal the conditions under which specific tools matter for equity in terms of both process and outcomes. Plain Language Summary: This paper assesses how social vulnerability and equity were discussed in workshops and interviews with stormwater managers and stakeholders (SMS) representing small and medium‐sized cities, counties/parishes, and villages and towns within 100 miles of the US Gulf Coast. The workshops (32 communities represented) and interviews (24 communities represented) were part of a project where researchers and practitioners disseminated digital tools to these local stakeholders for conducting stormwater climate vulnerability assessments. In the workshops, SMS expressed similar viewpoints regarding the groups of people who are the most at risk, often defining these groups of people as having mobility impairments or without access to adequate monetary resources. Individuals associated "community" with homeownership and often described their relationships with residents as strained. Findings convey divergent viewpoints on digital tools and social vulnerability data, and the imperative or rationale for integrating social vulnerability data into their work. Interviews generated more critical reflection than was present in workshops regarding racial disparities in exposure to hazards. Authors reflect on the challenges to conducting inclusive facilitation in co‐production settings. A key insight from this article is that tools and team composition matter but there is nuance in the degree to which they matter considering contextual factors. Key Points: Stormwater managers and stakeholders differ in how they discuss social vulnerability and equity in relation to their workLocal government actors often discuss "community" as both an asset and obstacleTools, team composition, and context matter to for co‐production to address racial equity in adaptation [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

6. Routine CYP2C19 Genotyping to Adjust Thienopyridine Treatment After Primary PCI for STEMI: Results of the GIANT Study

Author

Chevalier, Bernard, Montalescot, Gilles, Hulot, Jean-Sébastien, Belle, Loïc, Cayla, Guillaume, Le Breton, Hervé, Teiger, Emmanuel, Dambrin, Grégoire, Khalife, K., Schmutz, L., Funck, F., Berthier, R., Piot, C., Hannebicque, G., Montalescot, G., Lognone, T., De Poli, F., Chevalier, B., Lhoest, N., Schneeberger, M., Delarche, N., Faure, A., Aelion, H., Godin, M., Gilard, M., Ritz, B., Barraud, P., Barnay, P., Saïdi, L.N., Le Dref, O., Garot, P., Range, G., Georges, J., Robin, C., Cottin, Y., Belle, L., Souteyrand, G., Lafont, A., Fournier, A., Dupouy, P., Shayne, J., Chapon, P., Boureux, C., Faure, J.P., Ben Amer, H., Furber, A., Ormezzano, O., Bayet, G., Karrillon, G., Maillard, L., Grenzinger, A., Avran, A., Koning, R., Dumant, D., Lamit, X., Dauphin, R., Drogoul, L., Cuisset, T., Wittenberg, O., Peyre, J.P., Laury, P., Robert, R., Belle, Loic, Khalife, Khalife, Funck, François, Berthier, Romain, Piot, Christophe, and Tafflet, Muriel

Published
2020
Full Text
View/download PDF

8. Prise en charge chirurgicale de l’hyperaldostéronisme primaire en France de 2010 à 2020, résultats de l’association francophone de chirurgie endocrinienne (AFCE) – groupe d’étude Eurocrine®

Author

Vignaud, T., primary, Baud, G., additional, Nominé-Criqui, C., additional, Donatini, G., additional, Santucci, N., additional, Hamy, A., additional, Lifante, J.C., additional, Maillard, L., additional, Mathonnet, M., additional, Chereau, N., additional, Pattou, F., additional, Caiazzo, R., additional, Tresallet, C., additional, Kuczma, P., additional, Menegaux, F., additional, Drui, D., additional, Gaujoux, S., additional, Afce, S.G., additional, Brunaud, L., additional, and Mirallié, E., additional

Published
2023
Full Text
View/download PDF

14. Recommandations françaises sur l’électroencéphalogramme

Author

André-Obadia, N., Sauleau, P., Cheliout-Heraut, F., Convers, P., Debs, R., Eisermann, M., Gavaret, M., Isnard, J., Jung, J., Kaminska, A., Kubis, N., Lemesle, M., Maillard, L., Mazzola, L., Michel, V., Montavont, A., N’Guyen, S., Navarro, V., Parain, D., Perin, B., Rosenberg, S.D., Sediri, H., Soufflet, C., Szurhaj, W., Taussig, D., Touzery – de Villepin, A., Vercueil, L., and Lamblin, M.D.

Published
2014
Full Text
View/download PDF

20. Évaluation de l’exactitude de latéralisation du foyer épileptogène par la tomographie par émission de positons au 18f-fluorodésoxyglucose dans le bilan préopératoire de l’épilepsie temporale : analyse visuelle simple et par index d’asymétrie inter-hémisphérique par soustraction d’images, analyse quantitative par statistical parametric mapping

Author

Yagdigul, Y., Verger, A., Van Der Gucht, A., Poussier, S., Maillard, L., Roch, V., Karcher, G., and Marie, P.-Y.

Published
2014
Full Text
View/download PDF

22. Viscoelastic properties of tumour tissue: relation with structure and composition

Author

Levillain, Aurelie, Confavreux, Cyrille, Decaussin, Myriam, Durieux, Emeline, Paparel, P, Le-Bail Carval, K, Maillard, L, Bermond, François, Mitton, David, Follet, Hélène, Laboratoire de Biomécanique et Mécanique des Chocs (LBMC UMR T9406 ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Gustave Eiffel, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), MSDAvenir, European Society of Biomechanics, and Cadic, Ifsttar

Subjects
[SDV.CAN] Life Sciences [q-bio]/Cancer, [PHYS.MECA.BIOM] Physics [physics]/Mechanics [physics]/Biomechanics [physics.med-ph], [SDV.CAN]Life Sciences [q-bio]/Cancer, [PHYS.MECA.BIOM]Physics [physics]/Mechanics [physics]/Biomechanics [physics.med-ph], viscoelasticity, TUMEUR
Abstract

The aim of this study was to characterise the viscoelastic properties of different types of human tumour tissue that frequently metastasize to the bone using AFM and to correlate them with tissue composition.

Published
2022

23. Interobserver variability in the classification of congenital coronary abnormalities: A substudy of the anomalous connections of the coronary arteries registry

Author

Koutsoukis, Athanasios, Halna du Fretay, Xavier, Dupouy, Patrick, Ou, Phalla, Laissy, Jean‐Pierre, Juliard, Jean‐Michel, Hyafil, Fabien, Aubry, Pierre, Abi Khalil, W., Aguirre, L., Akesbi, A., Aubry, P., Banus, Y., Belle, L., Benamer, H., Biron, Y., Boiffard, E., Bouallal, R., Boudvillain, O., Bourkaïb, R., Brasselet, C., Bressollette, E., Brunel, P., Champagnac, D., Coco, M., Commeau, P., Cook, S., Couppie, P., de Poli, F., Delorme, L., Descoutures, F., Didier, R., Ducrocq, G., Dupouy, P., Durier, C., El Mahmoud, R., Estève, J.‐B., Faurie, B., Garbarz, E., Georges, J.‐L., Gérardin, B., Gibault‐Genty, G., Gilard, M., Godin, M., Goy, J.‐J., Haffner‐Debus, C., Halna du Fretay, X., Hanssen, M., Hascoët, S., Jacquemin, L., Jeanneteau, J., Joseph, T., Juliard, J.‐M., Karsenty, B., Koning, R., La Scala, E., Leddet, P., Lemesle, G., Leurent, G., Levy, R., Livarek, B., Loubeyre, C., Maillard, L., Mangin, L., Marlière, S., Nejjari, M., Ohlmann, P., Poulos, N., Py, A., Ranc, S., Rialan, A., Roriz, R., Rougier, P., Staat, P., Thuaire, C., Togni, M., van Rothem, J., Varenne, O., and Voudris, V.

Published
2017
Full Text
View/download PDF

33. Biofreedom France registry: A prospective evaluation of clinical outcomes in real-world patients treated by coronary angioplasty with Biolimus A9 polymer-free Biofreedom stents

Author

Lipiecki, J., primary, Brunel, P., additional, Dibie, A., additional, Morelle, J.F., additional, Abdellauoi, M., additional, Levy, R., additional, Carrié, D., additional, Karsenty, B., additional, Robin, C., additional, Berland, J., additional, Maillard, L., additional, Pankert, M., additional, Depoli, F., additional, Delarche, N., additional, Boiffard, E., additional, Champagne, S., additional, Piot, C., additional, Morel, O., additional, Chapon, P., additional, and Garot, P., additional

Published
2022
Full Text
View/download PDF

34. EURObservational Research Programme: the Chronic Ischaemic Cardiovascular Disease Registry: Pilot phase (CICD-PILOT)

Author

Komajda, Michel, Weidinger, Franz, Kerneis, Mathieu, Cosentino, Francesco, Cremonesi, Alberto, Ferrari, Roberto, Kownator, Serge, Steg, Philippe Gabriel, Tavazzi, Luigi, Valgimigli, Marco, Szwed, Hanna, Majda, Wojciech, Olivari, Zoran, Van Belle, Eric, Shlyakhto, Evgeny Vladimirovich, Mintale, Iveta, Slapikas, Rimvydas, Rittger, Harald, Mendes, Miguel, Tsioufis, Constantinos, Balanescu, Serban, Laroche, Cécile, Maggioni, Aldo Pietro, Komajda, Michel, Weidinger, Franz, Cosentino, Francesco, Cremonesi, Alberto, Ferrari, Roberto, Kownator, Serge, Maggioni, Aldo P., Steg, Gabriel, Tavazzi, Luigi, Valgimigli, Marco, Balanescu, Serban, Mendes, Miguel, Mintale, Iveta, Olivari, Zoran, Rittger, Harald, Shlyakhto, Evgeny V., Slapikas, Rimvydas, Szwed, Hanna, Van Belle, Éric, Laroche, Cécile, McNeill, Patti-Ann, Ferreira, Thierry, Vochelet, F., Tavildari, A., Silvestri, M., Maillard, L., Sevilla, J., Malaquin, D., Leborgne, L., Fournier, A., Jarry, G., Teiger, E., Marchant, B., Van Belle, E., Criquioche, A., Dupouy, P., Madiot, H., Lafitte, B., Belle, L., Cayla, G., Abouth-Benamara, S., Messas, E., Delarche, N., Bouvier, E., Couleru, J., Paparoni, F., Marchant, B., Bedossa, M., Lepage, Q., Le Bouquin, L., Auffret, V., Leurent, G., Boulmier, D., Le Breton, H., Vidal, C., Touet, M., Tron, C., Hemmerling, S., Flugel, P.-C., Beschorner, U., Noory, E., Strubin, J., Macharzina, R., Lindemann, C., Specht, T., Brantner, R., Zeller, T., Schwarzwalder, U., Hirschmann, S., Schonhardt, S., Slimack-Braun, S., Link, S., Hauk, M., Welslau, M., Henning, A., Menz, C., Buciuceanu, V., Rastan, A., Bschorr, R., Schmitt, C., Maas, C., Jacques, B., Bohme, T., Burgelin, K., Hoffmann, M., Pirzer, R., Brune, M., Braun, M., Stolte, D., Dietrich, A., Singh, A., Rittger, H., Schibgilla, V., Hopf, S., Fouridis, P., Fabiani, R., Jakob, A., Garlichs, C., Trautvetter, J., Schineis, N., Brugger, A., Bojanic, D., Matschke, C., Schmidt, A., Scheinert, D., Scheinert, S., Banning-Eichenseer, U., Stauffer, A., Straube, F., Hoffmann, E., Antoni, D., Rieber, J., Tomelden, J., Deichstetter, M., Landwehr, P., Reif, S., Kallikazaros, I., Tsioufis, C., Korkovili, M., Stamatelopoulos, K., Tsoumani, Z., Loizos, S., Kanakakis, I., Kampouridis, N., Simeonidis, D., Bougas, T., Chasapi, A., Alexopoulos, D., Xanthopoulou, I., Vogiatzi, X., Stavrou, K., Bampouri, T., Sicuro, M., Amato, G., Pisano, F., Casolati, D., Bare, C., Grotti, S., Angioli, P., Bolognese, L., Ducci, K., Porto, I., Falsini, G., Liisto, F., Manzi, R.C., Langiu, M., Lai, C., Lodolini, V., Biscaglia, S., Ferrari, R., Occhilupo, P., Tebaldi, M., Minarelli, M., Fileti, L., Campo, G., Sbarzaglia, P., Bonilla, N., Schiavina, G., dʼAlessandro, G., Borghesi, M., Cremonesi, A., Rota, I., Ghigliotti, G., Davi, F., Beccaria, F., Brunelli, C., Mussardo, M., Cisotta, F., Spagnolo, B., Liso, A., Dal Corso, L., Favretto, G., Borsatto, F., Benedetto, M., Cirrincione, G., Gandolfo, C., Caruso, M., Stabile, A., Lanteri, S., Riina, M., Lunetto, M.L., Vadala, G., Micari, A., Rossi, E., Griksteite, E., Cavallini, C., Longhi, S., Pasqualini, M., Negrelli, M., Pacchioni, E., Brunazzi, M.C., Marcomin, C., Neri, R., Cassin, M., Vendrametto, F., Macor, F., Nicolosi, G., Pavan, D., Piasentin, C., Roman-Pognuz, A., Taccheri, T., Calcagno, S., Pagliaro, M., Mancone, M., Fedele, F., Cinque, A., Armato, A., Tarducci, R., Della Bona, R., Brandini, R., Rossi, P., Fronticelli, M., Casavecchia, M., Olivari, Z., Calzolari, D., Daniotti, A., Balcere, K., Stirna, V., Libins, A., Zabunova, M., Silina, E., Ozola, G., Rancane, G., Babarskiene, R., Viezelis, M., Petrauskaite, J., Rumbinaite, E., Stankala, S., Juszczyk, Z., Karwowska Polecka, W., Oleksza, A., Bialek, P., Klimczuk, A., Poplawski, A., Aksiucik, A., Musial, W., Swiecki, P., Marcinkiewicz-Siemion, M., Ptaszynska-Kopczynska, K., Prokop, J., Kubica, J., Janiszewska, E., Kopczynska, A., Tarnawska, M., Gruchala, M., Pajkowski, M., Raczak, G., Wojtowicz, D., Strozyk, A., Miekus, P., Szyman, M., Glaza, M., Roszko-Grycner, E., Szpajer, M., Wroblewska, M., Zadrozny, J., Muller, H., Puzio, E., Lesinski, D., Borowski, B., Kowalska, A., Wojtyniak, I., Krzewinska, J., Borej, G., Czaja, P., Janion, M., Zandecki, L., Kuczerowska, R., Bogacki, P., Kafara, M., Rola, A., Podolec, P., Waligora, M., Brozda, M., Skrzynska, M., Glowa, B., Gawor, Z., Dejak, P., Brylka, A., Banasiak, M., Simiera, M., Krecki, R., Ojrzanowski, M., Jankowski, L., Kupczynska, K., Kasprzak, J.D., Zapolski, T., Zarczuk, R., Lukasik, D., Wysokinski, A., Zalewska-Nowak, G., Tarnolicki, M., Major, M., Gorny, J., Krzyzanowski, W., Muzyk-Osikowicz, M., Boltryk, K., Grajek, S., Maczynski, M., Lesiak, M., Komosa, A., Drewnicki, A., Wolniewicz, L., Komorowska, E., Gmyrek, N., Kowalik, M., Kostka, M., Kaminski, L., Mikolowicz-Mosiadz, A., Mazur, R., Kosztowniak, M., Pajaczkowski, K., Duda, K., Kosno-Zak, J., Dworak-Podlewska, E., Burchard, E., Wrzosek, B., Gurba, S., Wozniak, P., Dabek, M., Kuzniar, J., Lyczywek, M., Szubielski, M., Gajewski, M., Wasiak, D., Oscik-Lukasiewicz, M., Kawka-Urbanek, T., Diks, F., Przywoska-Para, B., Drazkowicz-Gozdzik, B., Kornacewicz-Jach, Z., Kula, L., Goracy, J., Chlasta, J., Tomaniak, M., Opolski, G., Serafin, A., Pietrasik, A., Kosek, M., Jastrzebski, J., Witkowski, A., Pruszczyk, P., Roik, M., Kostrubiec, M., Irzyk, K., Wretowski, D., Labyk, A., Budaj, A., Maciejewski, P., Szwed, H., Majda, W., Chojecka, M., Mosur, M., Gajer-Blaszczyk, K., Bociaga, Z., Loboz-Rudnicka, M., Loboz-Grudzien, K., Jaroch, J., Rzyczkowska, B., Chelstowski, W., Lewandowska, A., Darocha, A., Skowron, W., Polonski, L., Maciol-Skurk, K., Madeira, S., Mendes, M., Brito, J., Santos, M., Leite, L., Vicente, J., Calisto, J., Faria, H., Jorge, E., Mendes, A., Santos, R., Pinto, P., Guedes, H., Placido, R., Correia, M.J., Cabrita, I., Rodrigues, C., Nunes Diogo, A., Magalhaes, A., Canas da Silva, A., Selas, M., Portugal, G., Viveiros Monteiro, A., Timoteo, A.T., Ribeiro, M., Espregueira Mendes, D., Rodrigues, R., Lopes, R., Ribeiro, V., Melao, F., Magalhaes, D., Silva, J., Ribeiro, V. Gama, Braga, P., Goncalves, M., de Morais, G. Pires, Melica, B., Rodrigues, A., Santos, L., Cojocaru, L., Mazilu, L., Suceveanu, A.I., Rusali, A., Parepa, I.R., Maxim, R., Matei, L., Ioanovici, S., Buzas, R., Mihaela Iuliana, M., Susan, M., Ionita, M., Coceala, L., Suceava, I., Ciobotaru, G., Lighezan, D., Nicolescu, C., Mukhametgatova, D., Baleeva, L., Galyavich, A., Gratsiansky, N.A., Erlikh, A., Kondratenko, V., Libis, R., Vezikova, N., Skopets, I., Marusenko, I., Lapshin, K., Yakovlev, A., Lokhovinina, N., Alugishvili, M., Panov, A., Abesadze, I., Salakhova, J., Kondrateva, I., and Duplyakov, D.

Published
2016
Full Text
View/download PDF

42. Hypoparathyroidism: consequences, economic impact, and perspectives. A case series and systematic review

Author

Fanget, F, Demarchi, Marco Stefano, Maillard, L, Boukili, I El, Gerard, M, Decaussin, M, Borson-Chazot, Françoise, and Lifante, J C

Subjects
Quality of life, Economic impact, ddc:617, Hypocalcemia, Hypoparathyroidism, Hypoparathyroïdie, Qualité de vie, Hypocalcémie, Thyroidectomy, Thyroïdectomie, Impact économique
Abstract

Postoperative hypoparathyroidism (PH) is the most common complication after total thyroidectomy. Incidence varies from 2% to 83%, depending on the definition.

Published
2021

43. Concentration géographique des produits agricoles : une analyse pour l'Union européenne

Author

Daniel, Karine, Maillard, L., COLSON, F., Laboratoire d'Études et de Recherches en Economie (LERECO CEDRAN), and Institut National de la Recherche Agronomique (INRA)

Subjects
localisation, environnement, espace et société, [SHS]Humanities and Social Sciences
Abstract

Cette étude porte sur les changements de localisation des productions agricoles au sein de l'Union européenne. Ces phénomènes sont analysés grâce à la construction de deux modèles d'économie géographique. Le premier présente la répartition de deux activités agricoles sur un territoire. Il est centré sur la représentation des marchés agricoles et inspiré des travaux de Krugman (1991). Il permet d'identifier certains déterminants (coûts de transport, politiques publiques...) des phénomènes de spécialisation ou de diversification de la production agricole sur un territoire. Le second modèle présente la répartition de deux activités dans deux espaces productifs. Il montre comment, lors d'une intégration, les politiques économiques de nature réglementaire (différenciation territoriale des produits) peuvent infléchir les phénomènes de concentration géographique des activités agricoles. Afin de valider les résultats issus des deux modèles, l'étude de la localisation des biens agricoles est réalisée pour la période 1983/1995, selon une typologie (30 bassins de production) établie sur la base du Réseau d'information comptable agricole (RICA). Elle permet de mettre en évidence que les phénomènes de spécialisation et de concentration des productions sont propres à chaque produit, en fonction de leurs caractéristiques et de leur appartenance, ou non, à une Organisation commune de marché. La mise en place d'indicateurs de compétitivité des bassins et les tests économétriques qui en découlent permettent de présenter l'influence des différents déterminants sur l'évolution de la localisation géographique des biens agricoles. Alors que la concentration des produits soutenus est freinée par les politiques publiques, les produits "agro-industriels" non soutenus vont se concentrer dans les bassins disposant d'un accès au marché communautaire (coûts de transport).

Published
2020

44. Dissociated face- and word-selective intracerebral responses in the human ventral occipito-temporal cortex

Author

Hagen, S., Lochy, A., Jacques, C., Maillard, L., Colnat-Coulbois, S., Jonas, J., Rossion, B., Hagen, S., Lochy, A., Jacques, C., Maillard, L., Colnat-Coulbois, S., Jonas, J., and Rossion, B.

Abstract

Contains fulltext : 236279.pdf (Publisher’s version ) (Open Access), The extent to which faces and written words share neural circuitry in the human brain is actively debated. Here, we compare face-selective and word-selective responses in a large group of patients (N = 37) implanted with intracerebral electrodes in the ventral occipito-temporal cortex (VOTC). Both face-selective (i.e., significantly different responses to faces vs. non-face visual objects) and word-selective (i.e., significantly different responses to words vs. pseudofonts) neural activity is isolated with frequency-tagging. Critically, this sensitive approach allows to objectively quantify category-selective neural responses and disentangle them from general visual responses. About 70% of significant electrode contacts show either face-selectivity or word-selectivity only, with the expected right and left hemispheric dominance, respectively. Spatial dissociations are also found within core regions of face and word processing, with a medio-lateral dissociation in the fusiform gyrus (FG) and surrounding sulci, respectively. In the 30% of overlapping face- and word-selective contacts across the VOTC or in the FG and surrounding sulci, between-category-selective amplitudes (faces vs. words) show no-to-weak correlations, despite strong correlations in both the within-category-selective amplitudes (face-face, word-word) and the general visual responses to words and faces. Overall, these observations support the view that category-selective circuitry for faces and written words is largely dissociated in the human adult VOTC.

Published
2021

45. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB, Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, and Goldstein, DB

Abstract

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.

Published
2021

50. Physiological Evaluation of Anomalous Aortic Origin of a Coronary Artery Using Computed Tomography–Derived Fractional Flow Reserve

Author

Adjedj, Julien, primary, Hyafil, Fabien, additional, Halna du Fretay, Xavier, additional, Dupouy, Patrick, additional, Juliard, Jean‐Michel, additional, Ou, Phalla, additional, Laissy, Jean‐Pierre, additional, Muller, Olivier, additional, Wijns, William, additional, Aubry, Pierre, additional, Abi Khalil, W., additional, Aguirre, L., additional, Akesbi, A., additional, Aubry, P., additional, Banus, Y., additional, Belle, L., additional, Benamer, H., additional, Biron, Y., additional, Boiffard, E., additional, Bouallal, R., additional, Boudvillain, O., additional, Bourkaïb, R., additional, Brasselet, C., additional, Bressollette, E., additional, Brunel, P., additional, Champagnac, D., additional, Coco, M., additional, Commeau, P., additional, Cook, S., additional, Couppie, P., additional, de Poli, F., additional, Delorme, L., additional, Descoutures, F., additional, Didier, R., additional, Ducrocq, G., additional, Dupouy, P., additional, Durier, C., additional, El Mahmoud, R., additional, Estève, J.‐B., additional, Faurie, B., additional, Garbarz, E., additional, Georges, J.‐L., additional, Gérardin, B., additional, Gibault‐Genty, G., additional, Gilard, M., additional, Godin, M., additional, Goy, J.‐J., additional, Haffner‐Debus, C., additional, Halna du Fretay, X., additional, Hanssen, M., additional, Hascoët, S., additional, Jacquemin, L., additional, Jeanneteau, J., additional, Joseph, T., additional, Juliard, J.‐M., additional, Karsenty, B., additional, Koning, R., additional, La Scala, E., additional, Leddet, P., additional, Lemesle, G., additional, Leurent, G., additional, Levy, R., additional, Livarek, B., additional, Loubeyre, C., additional, Maillard, L., additional, Mangin, L., additional, Marlière, S., additional, Nejjari, M., additional, Ohlmann, P., additional, Poulos, N., additional, Py, A., additional, Ranc, S., additional, Rialan, A., additional, Roriz, R., additional, Rougier, P., additional, Staat, P., additional, Thuaire, C., additional, Togni, M., additional, van Rothem, J., additional, Varenne, O., additional, and Voudris, V., additional

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results