Long-term (180-day) outcomes in critically ill patients with COVID-19 in the REMAP-CAP randomized clinical trial

Autor: Florescu, S, Stanciu, D, Zaharia, M, Kosa, A, Codreanu, D, Kidwai, A, Masood, S, Kaye, C, Coutts, A, MacKay, L, Summers, C, Polgarova, P, Farahi, N, Fox, E, McWilliam, S, Hawcutt, D, Rad, L, O’Malley, L, Whitbread, J, Jones, D, Dore, R, Saunderson, P, Kelsall, O, Cowley, N, Wild, L, Thrush, J, Wood, H, Austin, K, Bélteczki, J, Magyar, I, Fazekas, Á, Kovács, S, Szőke, V, Donnelly, A, Kelly, M, Smyth, N, O’Kane, S, McClintock, D, Warnock, M, Campbell, R, McCallion, E, Azaiz, A, Charron, C, Godement, M, Geri, G, Vieillard-Baron, A, Johnson, P, McKenna, S, Hanley, J, Currie, A, Allen, B, McGoldrick, C, McMaster, M, Mani, A, Mathew, M, Kandeepan, R, Vignesh, C, TV, B, Ramakrishnan, N, James, A, Elvira, E, Jayakumar, D, Pratheema, R, Babu, S, Ebenezer, R, Krishnaoorthy, S, Ranganathan, L, Ganesan, M, Shree, M, Guilder, E, Butler, M, Cowdrey, K-A, Robertson, M, Ali, F, McMahon, E, Duffy, E, Chen, Y, Simmonds, C, McConnochie, R, O’Connor, C, El-Khawas, K, Richardson, A, Hill, D, Commons, R, Abdelkharim, H, Saxena, M, Muteithia, M, Dobell-Brown, K, Jha, R, Kalogirou, M, Ellis, C, Krishnamurthy, V, O’Connor, A, Thurairatnam, S, Mukherjee, D, Kaliappan, A, Vertue, M, Nicholson, A, Riches, J, Maloney, G, Kittridge, L, Solesbury, A, Ramos, A, Collins, D, Brickell, K, Reid, L, Smyth, M, Breen, P, Spain, S, Curley, G, McEvoy, N, Geoghegan, P, Clarke, J, Silversides, J, McGuigan, P, Ward, K, O’Neill, A, Finn, S, Wright, C, Green, J, Collins, É, Knott, C, Smith, J, Boschert, C, Slieker, K, Ewalds, E, Sanders, A, Wittenberg, W, Geurts, H, Poojara, L, Sara, T, Nand, K, Reeve, B, Dechert, W, Phillips, B, Oritz-Ruiz de Gordoa, L, Affleck, J, Shaikh, A, Murray, A, Ramanan, M, Frakking, T, Pinnell, J, Robinson, M, Gledhill, L, Wood, T, Sanghavi, R, Bhonagiri, D, Ford, M, Parikh, HG, Avard, B, Nourse, M, McDonald, B, Edmunds, N, Hoiting, O, Peters, M, Rengers, E, Evers, M, Prinssen, A, Morgan, M, Cole, J, Hill, H, Davies, M, Williams, A, Thomas, E, Davies, R, Wise, M, Grimm, P, Soukup, J, Wetzold, R, Löbel, M, Starke, L, Lellouche, F, Lizotte, P, Declerq, P, Antoine, M, Stephanie, G, Jean-Pierre, E, François, B, Marion, B, Philippe, R, Pourcine, F, Monchi, M, Luis, D, Mercier, R, Sagnier, A, Verrier, N, Caplin, C, Richecoeu, J, Combaux, D, Siami, S, Aparicio, C, Vautier, S, Jeblaoui, A, Lemaire-Brunel, D, D'Aragon, F, Carbonneau, E, Leblond, J, Plantefeve, G, Leparco, C, Contou, D, Fartoukh, M, Courtin, L, Labbe, V, Voiriot, G, Salhi, S, Chassé, M, Carrier, F, Boumahni, D, Benettaib, F, Ghamraoui, A, Sement, A, Gachet, A, Hanisch, A, Haffiane, A, Boivin, A-H, Barreau, A, Guerineau, E, Poupblanc, S, Egreteau, P, Lefevre, M, Bocher, S, Le Loup, G, Le Guen, L, Carn, V, Bertel, M, Antcliffe, D, Templeton, M, Rojo, R, Coghlan, P, Smee, J, Barker, G, Finn, A, Kreb, G, Hoff, U, Hinrichs, C, Nee, J, Mackay, E, Cort, J, Whileman, A, Spencer, T, Spittle, N, Beavis, S, Padmakumar, A, Dale, K, Hawes, J, Moakes, E, Gascoyne, R, Pritchard, K, Stevenson, L, Cooke, J, Nemeth-Roszpopa, K, Gauli, B, Bastola, S, Muller, G, Nay, M-A, Kamel, T, Benzekri, D, Jacquier, S, Runge, I, Mathonnet, A, Barbier, F, Bretagnol, A, Carter, J, Van Der Heyden, K, Mehrtens, J, Morris, A, Morgan, S, Burke, T, Mercier, E, Chartier, D, Salmon, C, Dequin, P-F, Garot, D, Bellemare, D, Cloutier, È, Daher, R, Costerousse, O, Boulanger, M-C, Couillard-Chénard, É, Lauzier, F, Francoeur, C, Francois, B, Gay, A, Anne-Laure, F, Ramali, M, HC, O, Ghosh, A, Osagie, R, Arachchige, M, Hartley, M, Cheung, W, Wong, H, Seigne, P, Eustace, J, O'Callaghan, A-M, O'Brien, F, Bamford, P, Reid, A, Cawley, K, Faulkner, M, Pickering, C, Raj, A, Tsinaslanidis, G, Khade, R, Agha, G, Sekiwala, R, Smith, T, Brewer, C, Gregory, J, Limb, J, Cowton, A, O’Brien, J, Postlethwaite, K, Malakouti, S, Music, E, Ricketts, D, King, A, Clermont, G, Bart, R, Mayr, F, Schoenling, A, Andreae, M, Shetty, V, Brant, E, Malley, B, Donadee, C, Sackrowitz, R, Weissman, A, Yealy, D, Barton, D, Talia, N, Nikitas, N, Wells, C, Lankester, L, McMillan, H, Van den Oever, H, Kruisdijk-Gerritsen, A, Haidar, G, Bain, W, Barbash, I, Fitzpatrick, M, Franz, C, Kitsios, G, Moghbeli, K, Rosborough, B, Shah, F, Suber, T, Pulletz, M, Williams, P, Birch, J, Wiseman, S, Horton, S, Alegria, A, Turki, S, Elsefi, T, Crisp, N, Allen, L, Truman, N, Smith, M, Chukkambotla, S, Goddard, W, Duberley, S, Khan, M, Kazi, A, Simpson, J, Duke, G, Chan, P, Carter, B, Hunter, S, Voigt, I, Schueler, R, Blank, E, Hüning, V, Steffen, M, Goralski, P, Litton, E, Regli, A, Pellicano, S, Palermo, A, Eroglu, E, Bihari, S, Laver, RD, Jin, X, Brown, J, McIntyre, J, French, C, Bates, S, Towns, M, Yang, Y, McGain, F, McCullagh, I, Cairns, T, Hanson, H, Patel, B, Clement, I, Evetts, G, Touma, O, Holland, S, Hodge, C, Taylor, H, Alderman, M, Barnes, N, Da Rocha, J, Smith, C, Brooks, N, Weerasinghe, T, Sinclair, J-A, Abusamra, Y, Doherty, R, Cudlipp, J, Singh, R, Yu, H, Daebis, A, Ng, C, Kendrick, S, Saran, A, Makky, A, Greener, D, Rowe-Leete, L, Edwards, A, Bland, Y, Dolman, R, Foster, T, Laffey, J, McNicholas, B, Scully, M, Casey, S, Kernan, M, Brennan, A, Rangan, R, Tully, R, Corbett, S, McCarthy, A, Duffy, O, Burke, D, Linnett, V, Sanderson, A, Ritzema, J, Wild, H, Lucas, R, Marriott, Y, Andric, Z, Cviljevic, S, Br, R, Zapalac, M, Mirković, G, Khare, D, Pinder, M, Gopinath, A, Kannan, T, Dean, S, Vanmali, P, Depuydt, P, De Waele, J, De Bus, L, Fierens, J, Bracke, S, Vermassen, J, Vermeiren, D, Pugh, R, Lean, R, Qiu, X, Scanlan, J, Evans, A, Davies, G, Lewis, J, Plesnikova, Y, Khoud, A, Coetzee, S, Puxty, K, Cathcart, S, Rimmer, D, Bagot, C, Scott, K, Martin, L, Yusuff, H, Isgro, G, Brightling, C, Bourne, M, Craner, M, Boyles, R, Alexander, B, Roberts, T, Nelli, A, Rosenstein-Sisson, R, Speyer, R, Pech, Y, McCullough, J, Tallott, M, Vazquez-Grande, G, Marten, N, Liu, T, Siddiqui, A, Khanal, S, Amatya, S, Szakmany, T, Cherian, S, Williams, G, James, C, Waters, A, Prout, R, Stedman, R, Davies, L, Pegler, S, Kyeremeh, L, Moorhouse, L, Arbane, G, Marotti, M, Bociek, A, Campos, S, Van Nieuwkoop, K, Ottens, T, Visser, Y, Van den Berg, L, Van der Kraan-Donker, A, Brett, S, Arias, S, Hall, R, Paneru, H, Koirala, S, Paudel, P, Wilson, M, Vaara, S, Pettilä, L, Heinonen, J, Pettilä, V, Jain, S, Gupta, A, Holbrook, C, Antoine, P, Meziani, F, Allam, H, Cattelan, J, Clere-Jehl, R, Helms, J, Kummerlen, C, Merdji, H, Monnier, A, Rahmani, H, Studer, A, Schneider, F, Castelain, V, Morel, G, L’Hotellier, S, Ochin, E, Vanjak, C, Rouge, P, Bendjemar, L, Albert, M, Serri, K, Cavayas, A, Duplaix, M, Williams, V, Catorze, NJTADS, Pereira, TNAL, Ferreira, RMC, Bastos, JMPS, Batista, TMO, Badie, J, Berdaguer, F, Malfroy, S, Mezher, C, Bourgoin, C, Moneger, G, Bouvier, E, Muñoz-Bermúdez, R, Marin-Corral, J, Degracia, A, Gómez, F, López, M, Aceto, R, Aghemo, A, Badalamenti, S, Brunetta, E, Cecconi, M, Ciccarelli, M, Constantini, E, Greco, M, Folci, M, Selmi, C, Voza, A, Henning, J, Bonner, S, Hugill, K, Cirstea, E, Wilkinson, D, Jones, J, Altomy, M, Karlikowski, M, Sutherland, H, Wilhelmsen, E, Woods, J, North, J, Pletz, M, Hagel, S, Ankert, J, Kolanos, S, Bloos, F, Simons, K, Van Zuylen, T, Bouman, A, Kumar, N, Panwar, R, Poulter, A-L, Sunkara, K, Szigligeti, G, Leszkoven, J, Rochwerg, B, Karachi, T, Oczkowski, S, Centofanti, J, Millen, T, Sundaran, D, Hollos, L, Turns, M, Walsh, J, Al Qasim, E, Alswaidan, L, Hegazy, M, Arishi, H, Al Amri, A, AlQahtani, S, Naidu, B, Tlayjeh, H, Hussain, S, Al Enezi, F, Abdukahil, SA, Hopkins, P, Noble, H, O’Reilly, K, Mehta, R, Wong, O, Makanju, E, Rao, D, Sikondari, N, Saha, S, Corcoran, E, Pappa, E, Cockrell, M, Donegan, C, Balaie, M, Nickoleit-Bitzenberger, D, Schaaf, B, Meermeier, W, Prebeg, K, Azzaui, H, Hower, M, Brieger, K-G, Elender, C, Sabelhaus, T, Riepe, A, Akamp, C, Kremling, J, Klein, D, Landsiedel-Mechenbier, E, Laha, S, Verlander, M, Jha, A, Megarbane, B, Voicu, S, Deye, N, Malissin, I, Sutterlin, L, Mrad, A, Lehalleur, A, Naim, G, Nguyen, P, Ekhérian, J-M, Boué, Y, Sidéris, G, Vodovar, D, Guérin, E, Grant, C, Brain, M, Mineall, S, Paramasivam, E, Wilby, E, Ogg, B, Howcroft, C, Aspinwall, A, Charlton, S, Gould, R, Mistry, D, Awan, S, Bedford, C, Carr-Wilkinson, J, Hall, A, Gardiner-Hill, C, Maloney, C, Brunskill, N, Watchorn, O, Hardy, C, Qureshi, H, Flint, N, Nicholson, S, Southin, S, Ghattaoraya, A, Harding, D, O’Halloran, S, Collins, A, Smith, E, Trues, E, Borgatta, B, Turner-Bone, I, Reddy, A, Wilding, L, Wilson, C, Surti, Z, Aneman, A, Miller, J, White, H, Estensen, K, Morrison, L, Sutton, J, Cooper, M, Warnapura, L, Agno, R, Sathianathan, P, Shaw, D, Ijaz, N, Spong, A, Sabaretnam, S, Burns, D, Lang, E, Tate, M, Fischer, R, Biradar, V, Soar, N, Golden, D, Davey, M, Seaman, R, Osborne, A, Bannard-Smith, J, Clark, R, Birchall, K, Henry, J, Pomeroy, F, Quayle, R, Wylie, K, Sukuraman, A, John, M, Sibin, S, Leditschke, A, Finnis, M, Jongebloed, K, Khwaja, K, Campisi, J, Van Vonderen, M, Pietersma, M, Vrolijk, L, Kampschreur, L, Van Gulik, L, Makowski, A, Misztal, B, Haider, S, Liao, A, Squires, R, Oborska, A, Kayani, A, Kalchko-Veyssal, S, Prabakaran, R, Hadebe, B, KalchkoVeyssal, S, Williams, T, Song, R, Morpeth, S, Lai, V, Habraken, H, Stewart, R, Mwaura, E, Mew, L, Wren, L, Willams, F, Sutherland, S-B, Rebello, R, Shehabi, Y, Al-Bassam, W, Hulley, A, Kadam, U, Sathianathan, K, Innes, R, Doble, P, Graham, L, Shovelton, C, Dean, T, Salahuddin, N, Aryal, D, Koirala, K, Rai, N, Luitel, S, Seppelt, I, Whitehead, C, Lowrey, J, Gresham, R, Masters, K, Hamlyn, V, Hawkins, N, Roynon-Reed, A, Cutler, S, Lewis, S, Lazaro, J, Newman, T, Aravindan, L, Asghar, A, Bartholomew, J, Bayne, M, Beddows, S, Birch, C, Brend, M, Byrne, R, Campbell, D, Campbell, H, Chambers, E, Clinton, A, Collins, J, Crawshaw, S, Dawson, LA, Donaldson, K, Drake, C, Dyas, S, Ellis, Y, Gilmour, K, Goodwin, J, Halden, S, Hall, AS, Hanson, J, Harper, H, Harrison, S, Hayes, A, Hodgson, H, Hurford, S-A, Jackson, S, Levett, C, Lock, S, Lockett, T, Logan, M, 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N, Maxime, V, Bossard, I, Nicholier, T, Clair, B, Orlikowski, D, Bounab, R, Abdeladim, L, Baker, S, Duroux, M, Ratcliffe, M, Sy, E, Mailman, J, Lee, S, Gupta, C, Kassir, S, López, R, Rodríguez-Gómez, J, Cárcel, S, Carmona, R, De la Fuente, C, Rodriguez, M, Jan Hassing, R, Greven, F, Huijbens, D, Roebers, L, Verheij, H, Miles, H, Attokaran, A, Buehner, U, Williams, E, Chapman, M, O’Connor, S, Glasby, K, Rivett, J, Brown, N, Kutsogiannis, D, Thompson, P, Rooney, K, Rodden, N, Thomson, N, McGlynn, D, Abel, L, Gemmell, L, Sundaram, R, Hornsby, J, Walden, A, Keating, L, Frise, M, Rai, S, Bartley, S, Schuster-Bruce, M, Pitts, S, Miln, R, Purandare, L, Vamplew, L, Dempster, D, Gummadi, M, Dormand, N, Wang, S, Spivey, M, Bean, S, Burt, K, Moore, L, Hammonds, F, Richards, C, Campbell, L, Smyth, K, Day, C, Zitter, L, Benyon, S, Singh, J, Lynch, C, Mikusek, J, Deacon, B, Turner, K, Baker, E, Hickey, J, Champanerkar, S, Aitken, L, LewisProsser, L, Ahmad, N, Wiles, M, Willson, J, Grecu, I, Martin, 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S, Wetherill, B, Brajković, A, Babel, J, Sever, H, Dragija, L, Kušan, I, Dushianthan, A, Cusack, R, De Courcy-Golder, K, Salmon, K, Burnish, R, Smith, S, Ruiz, W, Duke, Z, Johns, M, Male, M, Gladas, K, Virdee, S, Swabe, J, Tomlinson, H, Rohde, G, Grünewaldt, A, Bojunga, J, Petros, S, Kunz, K, Schütze, B, Weismann, D, Frey, A, Drayss, M, Goebeler, ME, Flor, T, Fragner, G, Wahl, N, Totzke, J, Sayehli, C, Hakak, S, Altaf, W, O'Sullivan, M, Murphy, A, Walsh, L, Rega La Valle, A, Bewley, J, Sweet, K, Grimmer, L, Johnson, R, Wyatt, R, Morgan, K, Varghese, S, Willis, J, Stratton, E, Kyle, L, Putensen, D, Drury, K, Skorko, A, Bremmer, P, Ward, G, Bassford, C, Sligl, W, Baig, N, Rewa, O, Bagshaw, S, Basile, K, Stavor, D, Burbee, D, McNamara, A, Wunderley, R, Bensen, N, Adams, P, Vita, T, Buhay, M, Scholl, D, Gilliam, M, Winters, J, Doherty, K, Berryman, E, Ghaffari, M, Marroquin, O, Quinn, K, Garrard, W, Kalchthaler, K, Beard, G, Skrtich, A, Bagavathy, K, Drapola, D, Bryan-Morris, K, Arnold, J, 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AF, Turner, AM, Van de Veerdonk, FL, Zarychanski, R, Green, C, Lewis, RJ, Angus, DC, McArthur, CJ, Berry, S, Derde, LPG, Gordon, AC, Webb, SA, Lawler, PR

Publikováno v: JAMA : the journal of the American Medical Association
JAMA, 329(1), 39-51. American Medical Association
Journal of the American Medical Association
Journal of the American Medical Association, 2023, 329 (1), pp.39-51. ⟨10.1001/jama.2022.23257⟩
Jama : Journal of the American Medical Association, 329, 1, pp. 39-51
Higgins, A M, Berry, L R, Lorenzi, E, Murthy, S, McQuilten, Z, Mouncey, P R, Al-Beidh, F, Annane, D, Arabi, Y M, Beane, A, Van Bentum-Puijk, W, Bhimani, Z, Bonten, M J M, Bradbury, C A, Brunkhorst, F M, Burrell, A, Buzgau, A, Buxton, M, Charles, W N, Cove, M, Detry, M A, Estcourt, L J, Fagbodun, E O, Fitzgerald, M, Girard, T D, Goligher, E C, Goossens, H, Haniffa, R, Hills, T, Horvat, C M, Huang, D T, Ichihara, N, Lamontagne, F, Marshall, J C, McAuley, D F, McGlothlin, A, McGuinness, S P, McVerry, B J, Neal, M D, Nichol, A D, Parke, R L, Parker, J C, Parry-Billings, K, Peters, S E C, Reyes, L F, Rowan, K M, Saito, H, Santos, M S, Saunders, C T & Serpa-Neto, A 2023, ' Long-term (180-day) outcomes in critically ill patients with COVID-19 in the REMAP-CAP randomized clinical trial ', JAMA, vol. 329, no. 1, pp. 39-51 . https://doi.org/10.1001/jama.2022.23257
Bradbury, C A & Higgins, A M 2023, ' Long-term (180-Day) Outcomes in Critically Ill Patients With COVID-19 in the REMAP-CAP Randomized Clinical Trial ', JAMA-Journal of the American Medical Association, vol. 329, no. 1, pp. 39-51 . https://doi.org/10.1001/jama.2022.23257
Jama : Journal of the American Medical Association, 329, 39-51
JAMA

ImportanceThe longer-term effects of therapies for the treatment of critically ill patients with COVID-19 are unknown.ObjectiveTo determine the effect of multiple interventions for critically ill adults with COVID-19 on longer-term outcomes.Design, S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f91977e02cef294ec43548f54d8c74
https://hdl.handle.net/10067/1935240151162165141

Fetal phenotypes in otopalatodigital spectrum disorders

Autor: Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, Cédric, Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M. P., Delezoide, A. L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., Fergelot, P.

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2016, 89 (3), pp.371-377 <10.1111/cge.12679>
Clinical Genetics, Wiley, 2016, 89 (3), pp.371-377. ⟨10.1111/cge.12679⟩
Clinical Genetics, 2016, 89 (3), pp.371-377. ⟨10.1111/cge.12679⟩

International audience; Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick–Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eed258db637b9aa8fddf0faa4abcd363
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01214017

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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Autor: Moutton S; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Fergelot P; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France.; Plateforme Génome Transcriptome, Centre de Génomique Fonctionnelle de Bordeaux, Université de Bordeaux, Bordeaux, France., Naudion S; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France., Cordier MP; CHU Lyon, Hôpital Femme-Mère-Enfant, Department of Medical Genetics, Bron cedex, France., Solé G; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France.; CHU Bordeaux, Hôpital Pellegrin, Department of Neurology, Fédération des Neurosciences Cliniques, Bordeaux, France., Guerineau E; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Hubert C; Plateforme Génome Transcriptome, Centre de Génomique Fonctionnelle de Bordeaux, Université de Bordeaux, Bordeaux, France., Rooryck C; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Vuillaume ML; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Houcinat N; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Deforges J; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France., Bouron J; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France., Devès S; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France., Le Merrer M; Institut Imagine, Hôpital Necker Enfants Malades, Department of Medical Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Paris cedex, France., David A; CHU Nantes, Hôpital Mère-Enfant, Department of Medical Genetics, Nantes cedex, France., Geneviève D; CHRU Montpellier, Hôpital Arnaud de Villeneuve, Department of Medical Genetics, Université Montpellier INSERM U1183, CLAD Sud Languedoc-Roussillon, Montpellier cedex, France., Giuliano F; CHU Nice, Hôpital l'Archet 2, Department of Medical Genetics, Nice cedex, France., Journel H; Centre Hospitalier Bretagne Atlantique, Department of Medical Genetics and Oncogenetics, Vannes cedex, France., Megarbane A; Al-Jawhara Center, Department of Medical Genetics, Arabian Gulf University, Manama, Kingdom of Bahrain., Faivre L; CHU Dijon, Department of Medical Genetics, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'inter-région Grand-Est, Hôpital d'Enfants, Dijon, France., Chassaing N; CHU Toulouse, Hôpital Purpan, Department of Medical Genetics, UDEAR, Université de Toulouse, Inserm, UPS, CNRS, Toulouse cedex, France., Francannet C; CHU Clermont-Ferrand, Hôpital d'Estaing, Department of Medical Genetics, Clermont-Ferrand cedex, France., Sarrazin E; CHU de Fort de France, Hôpital Pierre Zobda-Quitman, Department of Neuropediatrics, Centre de Référence Caribéen des Maladies Rares Neurologiques et Neuromusculaires, Martinique, France., Stattin EL; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Vigneron J; CHU Nancy, Maternité Régionale Adolphe Pinard, Department of Medical Genetics, Nancy cedex, France., Leclair D; CHU Raymond Poincaré, Department of Physical Medicine and Rehabilitation, Centre de Référence Maladies Neuromusculaires, Garches, France., Abadie C; CHRU Montpellier, Hôpital Arnaud de Villeneuve, Department of Medical Genetics, Université Montpellier INSERM U1183, CLAD Sud Languedoc-Roussillon, Montpellier cedex, France., Sarda P; CHRU Montpellier, Hôpital Arnaud de Villeneuve, Department of Medical Genetics, Université Montpellier INSERM U1183, CLAD Sud Languedoc-Roussillon, Montpellier cedex, France., Baumann C; AP-HP, Hôpital Robert Debré, Department of Medical Genetics, CLAD Ile de France, Paris, France., Delrue MA; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France., Arveiler B; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Lacombe D; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Goizet C; CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Coupry I; Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France.

Publikováno v: Journal of human genetics [J Hum Genet] 2016 Aug; Vol. 61 (8), pp. 693-9. Date of Electronic Publication: 2016 May 19.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

Autor: Masurel-Paulet A; Centre de Génétique, Hôpital d'Enfants, 10 bd Maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France., Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2011 Jan-Feb; Vol. 54 (1), pp. 25-8. Date of Electronic Publication: 2010 Oct 01.