未登录 Tyrosine phosphorylation regulates alpha II spectrin cleavage by calpain Nicolas, G; Fournier, CM; Galand, C; Malbert-Colas, L; Bournier, O; Kroviarski, Y; Bourgeois, M; Camonis, JH; Dhermy, D; Grandchamp, B; Lecomte, MC 分享 收藏
Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma TP53AIP1基因的截断突变易患皮肤黑色素瘤 Benfodda, Meriem; Gazal, Steven; Descamps, Vincent; Basset-Seguin, Nicole; Deschamps, Lydia; Thomas, Luc; Lebbe, Celeste; Saiag, Philippe; Zanetti, Roberto; Sacchetto, Lidia; Chiorino, Giovanna; Scatolini, Maria; Grandchamp, Bernard; Bensussan, Armand; Soufir, Nadem 分享 收藏
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis Borie, Raphael; Tabeze, Laure; Thabut, Gabriel; Nunes, Hilario; Cottin, Vincent; Marchand-Adam, Sylvain; Prevot, Gregoire; Tazi, Abdellatif; Cadranel, Jacques; Mal, Herve; Wemeau-Stervinou, Lidwine; Lafaurie, Anne Bergeron; Israel-Biet, Dominique; Picard, Clement; Gaubert, Martine Reynaud; Jouneau, Stephane; Naccache, Jean-Marc; Mankikian, Julie; Menard, Christelle; Cordier, Jean-Francois; Valeyre, Dominique; Reocreux, Marion; Grandchamp, Bernard; Revy, Patrick; Kannengiesser, Caroline; Crestani, Bruno 分享 收藏
Safety and efficacy of pirfenidone in patients with lung fibrosis and TERT mutation Justet, Aurelien; Borie, Raphael; Nunes, Hilario; Cottin, Vincent; Adam, Sylvain Marchand; Cadranel, Jacques; Bergot, Emmanuel; Wemeau-Stervineau, Lidwine; Naccache, Jean Marc; Magois, Eline; Frachon, Irene; Gondouin, Anne; Medhaoui, Anas; Cordier, Jean Francois; Valeyre, Dominique; Grandchamp, Bernard; Kanengiesser, Caroline; Crestani, Bruno 分享 收藏
Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer Roperch, Jean-Pierre; Grandchamp, Bernard; Desgrandchamps, Francois; Mongiat-Artus, Pierre; Ravery, Vincent; Ouzaid, Idir; Roupret, Morgan; Phe, Veronique; Ciofu, Calin; Tubach, Florence; Cussenot, Olivier; Incitti, Roberto 分享 收藏
PARKIN Inactivation Links Parkinson's Disease to Melanoma Hu, Hui-Han; Kannengiesser, Caroline; Lesage, Suzanne; Andre, Jocelyne; Mourah, Samia; Michel, Laurence; Descamps, Vincent; Basset-Seguin, Nicole; Bagot, Martine; Bensussan, Armand; Lebbe, Celeste; Deschamps, Lydia; Saiag, Philippe; Leccia, Marie-Therese; Bressac-De-Paillerets, Brigitte; Tsalamlal, Amel; Kumar, Rajiv; Klebe, Stephan; Grandchamp, Bernard; Andrieu-Abadie, Nathalie; Thomas, Luc; Brice, Alexis; Dumaz, Nicolas; Soufir, Nadem 分享 收藏
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Kannengiesser, Caroline; Borie, Raphael; Menard, Christelle; Reocreux, Marion; Nitschke, Patrick; Gazal, Steven; Mal, Herve; Taille, Camille; Cadranel, Jacques; Nunes, Hilario; Valeyre, Dominique; Cordier, Jean Francois; Callebaut, Isabelle; Boileau, Catherine; Cottin, Vincent; Grandchamp, Bernard; Revy, Patrick; Crestani, Bruno 分享 收藏
Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition Ibarrola-Villava, Maider; Kumar, Rajiv; Nagore, Eduardo; Benfodda, Meriem; Guedj, Mickael; Gazal, Steven; Hu, Hui-Han; Guan, Jian; Rachkonda, P. Sivaramakishna; Descamps, Vincent; Basset-Seguin, Nicole; Bensussan, Armand; Bagot, Martine; Saiag, Philippe; Schadendorf, Dirk; Martin-Gonzalez, Manuel; Mayor, Matias; Grandchamp, Bernard; Ribas, Gloria; Soufir, Nadem 分享 收藏
Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Moran, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka 分享 收藏
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations (vol 89, pg 315, 2014) Campagna, Dean R.; de Bie, Charlotte I.; Schmitz-Abe, Klaus; Sweeney, Marion; Sendamarai, Anoop K.; Schmidt, Paul J.; Heeney, Matthew M.; Yntema, Helger G.; Kannengiesser, Caroline; Grandchamp, Bernard; Niemeyer, Charlotte M.; Knoers, Nine V. A. M.; Swart, Sonia; Marron, Gordon; van Wijk, Richard; Raymakers, Reinier A.; May, Alison; Markianos, Kyriacos; Bottomley, Sylvia S.; Swinkels, Dorine W.; Fleming, Mark D. 分享 收藏
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients Callebaut, Isabelle; Joubrel, Rozenn; Pissard, Serge; Kannengiesser, Caroline; Gerolami, Victoria; Ged, Cecile; Cadet, Estelle; Cartault, Francois; Ka, Chandran; Gourlaouen, Isabelle; Gourhant, Lenaick; Oudin, Claire; Goossens, Michel; Grandchamp, Bernard; De Verneuil, Hubert; Rochette, Jacques; Ferec, Claude; Le Gac, Gerald 分享 收藏
Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria Oustric, Vincent; Manceau, Hana; Ducamp, Sarah; Soaid, Rima; Karim, Zoubida; Schmitt, Caroline; Mirmiran, Arienne; Peoc'h, Katell; Grandchamp, Bernard; Beaumont, Carole; Lyoumi, Said; Moreau-Gaudry, Francois; Guyonnet-Duperat, Veronique; de Verneuil, Hubert; Marie, Joelle; Puy, Herve; Deybach, Jean-Charles; Gouya, Laurent 分享 收藏
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations Campagna, Dean R.; de Bie, Charlotte I.; Schmitz-Abe, Klaus; Sweeney, Marion; Sendamarai, Anoop K.; Schmidt, Paul J.; Heeney, Matthew M.; Yntema, Helger G.; Kannengiesser, Caroline; Grandchamp, Bernard; Niemeyer, Charlotte M.; Knoers, Nine V. A. M.; Swart, Sonia; Marron, Gordon; van Wijk, Richard; Raymakers, Reinier A.; May, Alison; Markianos, Kyriacos; Bottomley, Sylvia S.; Swinkels, Dorine W.; Fleming, Mark D. 分享 收藏
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C Hadj-Rabia, S.; Oriot, D.; Soufir, N.; Dufresne, H.; Bourrat, E.; Mallet, S.; Poulhalon, N.; Ezzedine, E.; Grandchamp, B.; Taieb, A.; Catteau, B.; Sarasin, A.; Bodemer, C. 分享 收藏
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Vuillaumier-Barrot, Sandrine; Bouchet-Seraphin, Celine; Chelbi, Malika; Devisme, Louise; Quentin, Samuel; Gazal, Steven; Laquerriere, Annie; Fallet-Bianco, Catherine; Loget, Philippe; Odent, Sylvie; Carles, Dominique; Bazin, Anne; Aziza, Jacqueline; Clemenson, Alix; Guimiot, Fabien; Bonniere, Maryse; Monnot, Sophie; Bole-Feysot, Christine; Bernard, Jean-Pierre; Loeuillet, Laurence; Gonzales, Marie; Socha, Koryna; Grandchamp, Bernard; Attie-Bitach, Tania; Encha-Razavi, Ferechte; Seta, Nathalie 分享 收藏
Genetic variation at KIT locus may predispose to melanoma KIT位点的遗传变异可能易患黑色素瘤 Bourillon, Agnes; Hu, Hui-Han; Hetet, Gilles; Lacapere, Jean-Jacques; Andre, Jocelyne; Descamps, Vincent; Basset-Seguin, Nicole; Ogbah, Zighereda; Puig, Susana; Saiag, Philippe; Bagot, Martine; Bensussan, Armand; Grandchamp, Bernard; Dumaz, Nicolas; Soufir, Nadem 分享 收藏
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Boileau, Catherine; Guo, Dong-Chuan; Hanna, Nadine; Regalado, Ellen S.; Detaint, Delphine; Gong, Limin; Varret, Mathilde; Prakash, Siddharth K.; Li, Alexander H.; d'Indy, Hyacintha; Braverman, Alan C.; Grandchamp, Bernard; Kwartler, Callie S.; Gouya, Laurent; Santos-Cortez, Regie Lyn P.; Abifadel, Marianne; Leal, Suzanne M.; Muti, Christine; Shendure, Jay; Gross, Marie-Sylvie; Rieder, Mark J.; Vahanian, Alec; Nickerson, Deborah A.; Michel, Jean Baptiste; Jondeau, Guillaume; Milewicz, Dianna M. 分享 收藏
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity Guillem, Flavia; Kannengiesser, Caroline; Oudin, Claire; Lenoir, Anne; Matak, Pavle; Donadieu, Jean; Isidor, Bertrand; Mechinaud, Francoise; Aguilar-Martinez, Patricia; Beaumont, Carole; Vaulont, Sophie; Grandchamp, Bernard; Nicolas, Gael 分享 收藏
Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects Hu, Hui-Han; Guedj, Mickael; Descamps, Vincent; Jouary, Thomas; Bourillon, Agnes; Ezzedine, Khaled; Taieb, Alain; Bagot, Martine; Bensussan, Armand; Saiag, Philippe; Grandchamp, Bernard; Basset-Seguin, Nicole; Soufir, Nadem 分享 收藏
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