Description of the Two-Dimensional Layer-Specific Strain Echocardiography Phenotype of Arrhythmogenic Left Ventricular Cardiomyopathy
Grimault, Dimitri, Serfaty, Jean-Michel, Guyomarch, Béatrice, Marteau, Lara, Goudal, Adeline, Schmitt, Sébastien, Warin-Fresse, Karine, Clero, Sophie, Fellah, Imen, Thollet, Aurélie, Probst, Vincent, Le Tourneau, Thierry, Trochu, Jean-Noël, Piriou, Nicolas
Published in Journal of the American Society of Echocardiography (01.10.2024)
Published in Journal of the American Society of Echocardiography (01.10.2024)
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Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
Le Scouarnec, Solena, Karakachoff, Matilde, Gourraud, Jean-Baptiste, Lindenbaum, Pierre, Bonnaud, Stéphanie, Portero, Vincent, Duboscq-Bidot, Laëtitia, Daumy, Xavier, Simonet, Floriane, Teusan, Raluca, Baron, Estelle, Violleau, Jade, Persyn, Elodie, Bellanger, Lise, Barc, Julien, Chatel, Stéphanie, Martins, Raphaël, Mabo, Philippe, Sacher, Frédéric, Haïssaguerre, Michel, Kyndt, Florence, Schmitt, Sébastien, Bézieau, Stéphane, Le Marec, Hervé, Dina, Christian, Schott, Jean-Jacques, Probst, Vincent, Redon, Richard
Published in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
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Interest and Limits of [ 18 F]ML-10 PET Imaging for Early Detection of Response to Conventional Chemotherapy
Jouberton, Elodie, Schmitt, Sébastien, Maisonial-Besset, Aurélie, Chautard, Emmanuel, Penault-Llorca, Frédérique, Cachin, Florent
Published in Frontiers in oncology (20.12.2021)
Published in Frontiers in oncology (20.12.2021)
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Journal Article
Clinical utility gene card for: acrodermatitis enteropathica - update 2015
Küry, Sébastien, Kharfi, Monia, Blouin, Eric, Schmitt, Sébastien, Bézieau, Stéphane
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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update on mutations of the SLC39A4 gene in acrodermatitis enteropathica
Schmitt, Sébastien, Küry, Sébastien, Giraud, Mathilde, Dréno, Brigitte, Kharfi, Monia, Bézieau, Stéphane
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Simultaneous proteoglycans and hypoxia mapping of chondrosarcoma environment by frequency selective CEST MRI
Autissier, Roxane, Mazuel, Leslie, Maubert, Elise, Bonny, Jean‐Marie, Auzeloux, Philippe, Schmitt, Sébastien, Traoré, Amidou, Peyrode, Caroline, Miot‐Noirault, Elisabeth, Pagés, Guilhem
Published in Magnetic resonance in medicine (01.08.2021)
Published in Magnetic resonance in medicine (01.08.2021)
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Base/Cryptand/Metal‐Free Automated Nucleophilic Radiofluorination of [18F]FDOPA from Iodonium Salts: Importance of Hydrogen Carbonate Counterion
Maisonial‐Besset, Aurélie, Serre, Audrey, Ouadi, Ali, Schmitt, Sébastien, Canitrot, Damien, Léal, Fernand, Miot‐Noirault, Elisabeth, Brasse, David, Marchand, Patrice, Chezal, Jean‐Michel
Published in European journal of organic chemistry (31.12.2018)
Published in European journal of organic chemistry (31.12.2018)
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Germline mosaicism is a pitfall in PGD for X‐linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin
Viart, Victoria, Willems, Marjolaine, Ishmukhametova, Aliya, Dufernez, Fabienne, Anahory, Tal, Hamamah, Samir, Schmitt, Sébastien, Claustres, Mireille, Girardet, Anne
Published in Prenatal diagnosis (01.02.2017)
Published in Prenatal diagnosis (01.02.2017)
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[F-18]-Fluoride capture and release: azeotropic drying free nucleophilic aromatic radiofluorination assisted by a phosphonium borane
Perrio, Cecile, Schmitt, Sebastien, Pla, Daniel, Gabbai, Francois P., Chansaenpak, Kantapat, Mestre-Voegtle, Beatrice, Gras, Emmanuel
Published in Chemical communications (Cambridge, England) (2017)
Published in Chemical communications (Cambridge, England) (2017)
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Journal Article
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.
Published in American journal of medical genetics. Part A (01.04.2016)
Published in American journal of medical genetics. Part A (01.04.2016)
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Pretargeted radioimmunotherapy and SPECT imaging of peritoneal carcinomatosis using bioorthogonal click chemistry: probe selection and first proof-of-concept
Rondon, Aurélie, Schmitt, Sébastien, Briat, Arnaud, Ty, Nancy, Maigne, Lydia, Quintana, Mercedes, Membreno, Rosemery, Zeglis, Brian M, Navarro-Teulon, Isabelle, Pouget, Jean-Pierre, Chezal, Jean-Michel, Miot-Noirault, Elisabeth, Moreau, Emmanuel, Degoul, Françoise
Published in Theranostics (01.01.2019)
Published in Theranostics (01.01.2019)
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[18F]ML-10 PET imaging fails to assess early response to neoadjuvant chemotherapy in a preclinical model of triple negative breast cancer
Jouberton, Elodie, Schmitt, Sébastien, Chautard, Emmanuel, Maisonial-Besset, Aurélie, Roy, Marie, Radosevic-Robin, Nina, Chezal, Jean-Michel, Miot-Noirault, Elisabeth, Bouvet, Yann, Cachin, Florent
Published in EJNMMI research (06.01.2020)
Published in EJNMMI research (06.01.2020)
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Journal Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability
Isidor, Bertrand, Küry, Sébastien, Rosenfeld, Jill A., Besnard, Thomas, Schmitt, Sébastien, Joss, Shelagh, Davies, Sally J, Roger Lebel, Robert, Henderson, Alex, Schaaf, Christian P., Streff, Haley E., Yang, Yaping, Jain, Vani, Chida, Nodoka, Latypova, Xenia, Caignec, Cédric Le, Cogné, Benjamin, Mercier, Sandra, Vincent, Marie, Colin, Estelle, Bonneau, Dominique, Denommé, Anne-Sophie, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Piton, Amélie, Dina, Christian, Donnart, Audrey, Lindenbaum, Pierre, Charpentier, Eric, Redon, Richard, Iemura, Kenji, Ikeda, Masanori, Tanaka, Kozo, Bézieau, Stéphane
Published in Human mutation (01.04.2016)
Published in Human mutation (01.04.2016)
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Journal Article
Selective GlyT1 Inhibitors: Discovery of [4-(3-Fluoro-5-trifluoromethylpyridin-2-yl)piperazin-1-yl][5-methanesulfonyl-2-((S)-2,2,2-trifluoro-1-methylethoxy)phenyl]methanone (RG1678), a Promising Novel Medicine To Treat Schizophrenia
Pinard, Emmanuel, Alanine, Alexander, Alberati, Daniela, Bender, Markus, Borroni, Edilio, Bourdeaux, Patrick, Brom, Virginie, Burner, Serge, Fischer, Holger, Hainzl, Dominik, Halm, Remy, Hauser, Nicole, Jolidon, Synese, Lengyel, Judith, Marty, Hans-Peter, Meyer, Thierry, Moreau, Jean-Luc, Mory, Roland, Narquizian, Robert, Nettekoven, Mathias, Norcross, Roger D, Puellmann, Bernd, Schmid, Philipp, Schmitt, Sebastien, Stalder, Henri, Wermuth, Roger, Wettstein, Joseph G, Zimmerli, Daniel
Published in Journal of medicinal chemistry (24.06.2010)
Published in Journal of medicinal chemistry (24.06.2010)
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Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance
Barc, Julien, Briec, François, Schmitt, Sébastien, Kyndt, Florence, Le Cunff, Martine, Baron, Estelle, Vieyres, Claude, Sacher, Frédéric, Redon, Richard, Le Caignec, Cédric, Le Marec, Hervé, Probst, Vincent, Schott, Jean-Jacques
Published in Journal of the American College of Cardiology (04.01.2011)
Published in Journal of the American College of Cardiology (04.01.2011)
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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy
Nizon, Mathilde, Cogne, Benjamin, Vallat, Jean-Michel, Joubert, Madeleine, Liet, Jean-Michel, Simon, Laure, Vincent, Marie, Küry, Sébastien, Boisseau, Pierre, Schmitt, Sébastien, Mercier, Sandra, Bénéteau, Claire, Larrose, Catherine, Coste, Marianne, Latypova, Xénia, Péréon, Yann, Mussini, Jean-Marie, Bézieau, Stéphane, Isidor, Bertrand
Published in European journal of human genetics : EJHG (01.01.2017)
Published in European journal of human genetics : EJHG (01.01.2017)
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N -[18 F]-FluoropropylJDTic for κ-Opioid Receptor PET Imaging: Radiosynthesis, Pre-clinical Evaluation, and Metabolic Investigation in Comparison with Parent JDTic
Schmitt, Sébastien, Delamare, Jérôme, Tirel, Olivier, Fillesoye, Fabien, Dhilly, Martine, Perrio, Cécile
Published in Nuclear medicine and biology (01.01.2017)
Published in Nuclear medicine and biology (01.01.2017)
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