Výsledky vyhledávání - Pirson, Isabelle

A novel partner for D-type cyclins: protein kinase A-anchoring protein AKAP95. Autor Arsenijevic, Tatjana, Degraef, Chantal, Dumont, Jacques E, Roger, Pierre P, Pirson, Isabelle

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Transforming Growth Factor β(1) Selectively Inhibits the Cyclic AMP-dependent Proliferation of Primary Thyroid Epithelial Cells by Preventing the Association of Cyclin D3–cdk4 with... Autor Depoortere, Fabienne, Pirson, Isabelle, Bartek, Jiri, Dumont, Jacques E., Roger, Pierre P.

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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1 Autor Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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Severe congenital microcephaly with AP4M1 mutation, a case report Autor Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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SHIP2 (SH2 Domain-containing Inositol Phosphatase 2) SH2 Domain Negatively Controls SHIP2 Monoubiquitination in Response to Epidermal Growth Factor Autor De Schutter, Julie, Guillabert, Aude, Imbault, Virginie, Degraef, Chantal, Erneux, Christophe, Communi, David, Pirson, Isabelle

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tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans Autor Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L., Wuyts, Wim, Julier, Cécile, Chakera, Ali J., Ellard, Sian, Hattersley, Andrew T., Abramowicz, Marc, Cnop, Miriam

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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population Autor Polla, Daniel L., Rahikkala, Elisa, Bode, Michaela K., Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K., Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P. M., Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma

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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population Autor Polla, Daniel L., Rahikkala, Elisa, Bode, Michaela K., Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K., Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P. M., Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma

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Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways Autor Duerinckx, Sarah, Jacquemin, Valérie, Drunat, Séverine, Vial, Yoann, Passemard, Sandrine, Perazzolo, Camille, Massart, Annick, Soblet, Julie, Racapé, Judith, Desmyter, Laurence, Badoer, Cindy, Papadimitriou, Sofia, Le Borgne, Yann‐Aël, Lefort, Anne, Libert, Frédérick, De Maertelaer, Viviane, Rooman, Marianne, Costagliola, Sabine, Verloes, Alain, Lenaerts, Tom, Pirson, Isabelle, Abramowicz, Marc

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy Autor Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

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