Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors
Marty, Caroline, Saint-Martin, Cécile, Pecquet, Christian, Grosjean, Sarah, Saliba, Joseph, Mouton, Céline, Leroy, Emilie, Harutyunyan, Ashot S., Abgrall, Jean-François, Favier, Rémi, Toussaint, Aurélie, Solary, Eric, Kralovics, Robert, Constantinescu, Stefan N., Najman, Albert, Vainchenker, William, Plo, Isabelle, Bellanné-Chantelot, Christine
Published in Blood (27.02.2014)
Published in Blood (27.02.2014)
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Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant
Huby, Thomas, Le Guillou, Edouard, Burin des Roziers, Cyril, Pacot, Laurence, Briand-Suleau, Audrey, Chansavang, Albain, Toussaint, Aurélie, Duchossoy, Véronique, Vaucouleur, Nicolas, Benoit, Virginie, Lodé, Laurence, Molac, Clémence, North, Marie-Odile, Grotto, Sarah, Tsatsaris, Vassilis, Jouinot, Anne, Cochand-Priollet, Béatrix, Paepegaey, Anne-Cécile, Nectoux, Juliette, Groussin, Lionel, Pasmant, Eric
Published in The journal of clinical endocrinology and metabolism (24.03.2022)
Published in The journal of clinical endocrinology and metabolism (24.03.2022)
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia
Published in Acta neuropathologica communications (25.07.2014)
Published in Acta neuropathologica communications (25.07.2014)
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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Published in European journal of human genetics : EJHG (01.08.2013)
Published in European journal of human genetics : EJHG (01.08.2013)
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PINK1 and FLNA mutations association: A role for atypical parkinsonism?
Degos, Bertrand, Toussaint, Aurélie, Lesage, Suzanne, Brice, Alexis, Vidailhet, Marie, Beldjord, Chérif, Catala, Martin
Published in Parkinsonism & related disorders (01.05.2016)
Published in Parkinsonism & related disorders (01.05.2016)
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Chiral Boron-Bridged Bisoxazoline (Borabox) Ligands: Structures and Reactivities of Pd and Cu Complexes
Köhler, Valentin, Mazet, Clément, Toussaint, Aurélie, Kulicke, Klaus, Häussinger, Daniel, Neuburger, Markus, Schaffner, Silvia, Kaiser, Stefan, Pfaltz, Andreas
Published in Chemistry : a European journal (26.09.2008)
Published in Chemistry : a European journal (26.09.2008)
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Efficient Copper-Mediated Reactions of Nitrenes Derived from Sulfonimidamides
Leca, Dominique, Toussaint, Aurélie, Mareau, Camille, Fensterbank, Louis, Lacôte, Emmanuel, Malacria, Max
Published in Organic letters (30.09.2004)
Published in Organic letters (30.09.2004)
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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum
BAHI-BUISSON, Nadia, SOUVILLE, Isabelle, LOUIS LEGER, Pierre, ELIE, Caroline, BODDAERT, Nathalie, BELDJORD, Cherif, CHELLY, Jamel, FRANCIS, Fiona, EUROPEAN CONSORTIUM, Sbh-Lis, FOURNIOL, Franck J, TOUSSAINT, Aurelie, MOORES, Carolyn A, HOUDUSSE, Anne, YVES LEMAITRE, Jean, POIRIER, Karine, KHALAF-NAZZAL, Reham, HULLY, Marie
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, De Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Published in European journal of human genetics : EJHG (01.08.2013)
Published in European journal of human genetics : EJHG (01.08.2013)
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, Mariana, Montani, Caterina, Lebrun, Nicolas, Gritti, Laura, Martin, Christelle, Seminatore-Nole, Christine, Toussaint, Aurelie, Moreno, Sarah, Poirier, Karine, Dorseuil, Olivier, Chelly, Jamel, Hackett, Anna, Gecz, Jozef, Bieth, Eric, Faudet, Anne, Heron, Delphine, Frank Kooy, R, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre
Published in Human molecular genetics (15.02.2015)
Published in Human molecular genetics (15.02.2015)
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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
Vasson, Aurélie, Leroux, Céline, Orhant, Lucie, Boimard, Mathieu, Toussaint, Aurélie, Leroy, Chrystel, Commere, Virginie, Ghiotti, Tiffany, Deburgrave, Nathalie, Saillour, Yoann, Atlan, Isabelle, Fouveaut, Corinne, Beldjord, Cherif, Valleix, Sophie, Leturcq, France, Dodé, Catherine, Bienvenu, Thierry, Chelly, Jamel, Cossée, Mireille
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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Improved Method for the Iodine(III)-Mediated Preparation of Aryl Sulfonimidates
Felim, Anne, Toussaint, Aurélie, Phillips, Courtney R, Leca, Dominique, Vagstad, Anna, Fensterbank, Louis, Lacôte, Emmanuel, Malacria, Max
Published in Organic letters (19.01.2006)
Published in Organic letters (19.01.2006)
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Synthesis of Boron-Bridged Anionic C2-Symmetric Bisoxazolines and Their Application in Asymmetric Catalysis
Clément Mazet, Valentin Köhler, Stephen Roseblade, Aurélie Toussaint, Andreas Pfaltz
Published in Chimia (28.04.2006)
Published in Chimia (28.04.2006)
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The Case | Epistasis and urolithiasis
Tabibzadeh, Nathalie, Cheddani, Lynda, Daudon, Michel, Haymann, Jean-Philippe, Toussaint, Aurélie, Silve, Caroline, Letavernier, Emmanuel
Published in Kidney international (01.08.2017)
Published in Kidney international (01.08.2017)
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Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Ben Ameur, Salma, Silve, Caroline, Chabchoub, Imene, Damak, Fatma, Kamoun, Fatma, Toussaint, Aurélie, Kmiha, Sana, Sfaihi, Lamia, Maaloul, Ines, Kamoun, Thouraya, Aloulou, Hajer, Hachicha, Mongia
Published in Hormone research in paediatrics (01.01.2017)
Published in Hormone research in paediatrics (01.01.2017)
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Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Published in European journal of human genetics : EJHG (18.07.2013)
Published in European journal of human genetics : EJHG (18.07.2013)
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