Not logged inNatural history of adult-onset metachromatic leukodystrophy
Mandia, Daniele; Dufour, Juliette; Fenu, Silvia; Salsano, Ettore; Benzoni, Chiara; Sellal, Francois; Pariente, Jeremie; Cengiz, Nilguen; Pettazzoni, Magali; Levade, Thierry; Lamari, Foudil; Caillaud, Catherine; La Piana, Roberta; Brassat, David; Durand-Dubief, Francoise; Besson, Gerard; Odent, Sylvie; Devos, David; Barbay, Melanie; Makrygianni, Maria; Kumperscak, Hojka Gregoric; Froissart, Roseline; Nadjar, Yann .png)
Share.png)
SaveBone mineral density in French adults with early-treated phenylketonuriaDybal, Elisa; Maillot, Francois; Feillet, Francois; Fouilhoux, Alain; Astudillo, Leonardo; Lavigne, Christian; Arnoux, Jean-Baptiste; Odent, Sylvie; Gay, Claire; Schiff, Manuel; Mazodier, Karin; Kuster, Alice; Rigalleau, Vincent; Thauvin-Robinet, Christel; Leguy-Seguin, Vanessa; Douillard, Claire; Charriere, Sybil Share Save DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendationsJeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick Share Save Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsThomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stephane; Leheup, Bruno; Genevieve, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylene; Becker, Aurelie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaelle; Devillard, Francoise; Schaefer, Elise; Baer, Sarah; Piton, Amelie; Gerard, Benedicte; Vincent, Marie; Nizon, Mathilde; Cogne, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frederic; Alessandri, Jean-Luc; Lebrun, Marine; Quelin, Chloe; Odent, Sylvie; Dubourg, Christele; David, Veronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Elise; Afenjar, Alexandra; Julia, Sophie; Bieth, Eric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, Francois; Nicolas, Gael; Charbonnier, Camille; Martin, Anne De Saint; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valerie; Oussalah, Abderrahim; Pourie, Carine; Lambert, Laetitia; Bonnet, Celine Share Save Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveCuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie Share Save Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of AgeSenemaud, Jean; Gaudry, Marine; Jouve, Elisabeth; Blanchard, Arnaud; Milleron, Olivier; Dulac, Yves; Olivier-Faivre, Laurence; Stephan, Dominique; Odent, Sylvie; Laneelle, Damien; Dupuis-Girod, Sophie; Jondeau, Guillaume; Bal-Theoleyre, Laurence Share Save Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureBar, Claire; Barcia, Giulia; Jennesson, Melanie; Le Guyader, Gwenael; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Herve; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guet, Agnes; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T.; Mefford, Heather C.; Howell, Katherine B.; Marini, Carla; Freeman, Jeremy L.; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G.; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E.; Kabashi, Edor; Nabbout, Rima Share Save De novo and biallelic DEAF1 variants cause a phenotypic spectrumSa, Maria J. Nabais; Jensik, Philip J.; McGee, Stacey R.; Parker, Michael J.; Lahiri, Nayana; McNeil, Evan P.; Kroes, Hester Y.; Hagerman, Randi J.; Harrison, Rachel E.; Montgomery, Tara; Splitt, Miranda; Palmer, Elizabeth E.; Sachdev, Rani K.; Mefford, Heather C.; Scott, Abbey A.; Martinez-Agosto, Julian A.; Lorenz, Ruediger; Orenstein, Naama; Berg, Jonathan N.; Amiel, Jeanne; Heron, Delphine; Keren, Boris; Cobben, Jan-Maarten; Menke, Leonie A.; Marco, Elysa J.; Graham, John M., Jr.; Pierson, Tyler Mark; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Manzini, M. Chiara; Cauley, Edmund S.; Colombo, Roberto; Odent, Sylvie; Dubourg, Christele; Phornphutkul, Chanika; de Brouwer, Arjan P. M.; de Vries, Bert B. A.; Vulto-vanSilfhout, Anneke T. Share Save PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansLe Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Veronique; Harbuz, Radu; Ray, Pierre F.; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, Luisa; Hackmann, Karl; Vogel, Ida; Christensen, Rikke; Fokstuen, Siv; Bena, Frederique; Amblard, Florence; Devillard, Francoise; Vieville, Gaelle; Apostolou, Alexia; Jouk, Pierre-Simon; Guebre-Egziabher, Fitsum; Sartelet, Herve; Coutton, Charles G Share Save New Insights into the Pathogenesis of Beckwith-Wiedemann and Silver-Russell Syndromes: Contribution of Small Copy Number Variations to 11p15 Imprinting DefectsDemars, Julie; Rossignol, Sylvie; Netchine, Irene; Lee, Kai Syin; Shmela, Mansur; Faivre, Laurence; Weill, Jacques; Odent, Sylvie; Azzi, Salah; Callier, Patrick; Lucas, Josette; Dubourg, Christele; Andrieux, Joris; Le Bouc, Yves; El-Osta, Assam; Gicquel, Christine Share Save Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in FranceLesca, G; Plauchu, H; Coulet, F; Lefebvre, S; Plessis, G; Odent, S; Rivière, S; Leheup, B; Goizet, C; Carette, MF; Cordier, JF; Pinson, S; Soubrier, F; Calender, A; Giraud, S Share Save Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literatureFaivre, L; Gosset, P; Cormier-Dairel, V; Odent, S; Amiel, J; Giurgea, I; Nassogne, MC; Pasquier, L; Munnich, A; Romana, S; Prieur, M; Vekemans, M; de Blois, MC; Turleau, C Share Save Mapping of a congenital microcoria locus to 13q31-q32Rouillac, C; Roche, O; Marchant, D; Bachner, L; Kobetz, A; Toulemont, PJ; Orssaud, C; Urvoy, M; Odent, S; Le Marec, B; Abitbol, M; Dufier, JL Share Save Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisSaugier-Veber, P; Martin, C; Le Meur, N; Lyonnet, S; Munnich, A; David, A; Henocq, A; Heron, D; Jonveaux, P; Odent, S; Manouvrier, S; Moncla, A; Morichon, N; Philip, N; Satge, D; Tosi, M; Frebourg, T Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
