Výsledky vyhledávání - Floor A.M. Duijkers

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  1. 1
    Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

    Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients Autor Nitash Zwaveling‐Soonawala, Mariëlle Alders, Aldo Jongejan, Lidija Kovačič, Floor A.M. Duijkers, Saskia M. Maas, Eric Fliers, A.S. Paul van Trotsenburg, Raoul C. M. Hennekam

    Vydáno 2017
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  2. 2
    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

    HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans Autor Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes

    Vydáno 2019
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  3. 3
    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 Autor Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael Stadler, Marietta Zinner, Daniel Olivieri, P. Vabres, Laurence Duplomb, Eveline S.J.M. de Bont, Yannis Duffourd, Floor A.M. Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D. Lichtenbelt, Christel Thauvin‐Robinet, Judith St‐Onge, Julien Thévenon, Koen L.I. van Gassen, Mieke M. van Haelst, Silvana van Koningsbruggen, Daniel Heß, Sébastien A. Smallwood, Jean‐Baptiste Rivière, Laurence Faivre, Joerg Betschinger

    Vydáno 2018
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  4. 4
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia Autor Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    Vydáno 2019
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  5. 5
    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females Autor Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert, Eric Haan, Hilde Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, Hans van Bokhoven, Tjitske Kleefstra, Kimia Kahrizi, Hossein Najmabadi, H‐H Ropers, Mauricio R. Delgado, Deepa Sirsi, Sailaja Golla, Annemarie Sommer, Marguerite Pietryga, Wendy K. Chung, Julia Wynn, Luis Rohena, Erika Bernardo, Damara R. Hamlin, Brian M. Faux, Dorothy K. Grange, Linda Manwaring, John Tolmie, Shelagh Joss, Jan M. Cobben, Floor A.M. Duijkers, Jessica Goehringer, Thomas D. Challman, Friederike Hennig, Utz Fischer, Acadia L. Grimme, Vanessa Suckow, Luciana Musante, J. Nicholl, M Shaw, Suhrid Lodh, Zhiyv Niu, Jill A. Rosenfeld, Paweł Stankiewicz, Thomas J. Jentsch, Jozef Gécz, Michael Field, Vera M. Kalscheuer

    Vydáno 2016
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  6. 6
    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome Autor Linda A.J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg‐Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J.W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke‐Lange, Violetta Anastasiadou, Chrystelle Colas, Marie‐Charlotte Villy, Patrick R. Benusiglio, А. В. Герасименко, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, Mustafa Ömer Yazıcıoğlu, Rachel S. van der Post, Janneke Schuurs-Hoeijmakers, Liselotte P. van Hest, Muriel A. Adank, Floor A.M. Duijkers, Maartje Nielsen, Katja C J Verbeek, Yvette van Ierland, Jacques C. Giltay, Janet R. Vos, Janet R. Vos

    Vydáno 2022
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  7. 7
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Autor Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    Vydáno 2024
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  8. 8
    Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy

    Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy Autor Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pier Luigi Martelli, Ivana Matera, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K. Mishra, Yu‐Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu-ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson W. MacInnes, Mariel Alders, Marc Engelen, Gabor E. Linthorst, Tom de Koning, Wilfred F.A. den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C. van Gent, Eleonora Aronica, Paolo Picco, Valério Carelli, Marco Seri, Nicholas Katsanis, Floor A.M. Duijkers, Mariko Taniguchi‐Ikeda, Roberto De Giorgio

    Vydáno 2021
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  9. 9
    Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

    Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study Autor Aung Ko Win, James G. Dowty, Jeanette C. Reece, Grant Lee, Allyson Templeton, John‐Paul Plazzer, Daniel D. Buchanan, Kiwamu Akagi, Seçil Ak Aksoy, Ángel Alonso, Karin Álvarez, David J. Amor, Ravindran Ankathil, Stefan Aretz, Julie Arnold, Melyssa Aronson, Rachel Austin, A Bäckman, Sanne W. ten Broeke, Verónica Barca-Tierno, Julian Barwell, Inge Bernstein, Pascaline Berthet, Beate Betz, Yves‐Jean Bignon, Talya Boisjoli, Valérie Bonadona, Laurent Briollais, Joan Brunet, Karolin Bucksch, Bruno Buecher, Reinhard Buettner, John Burn, Trinidad Caldés, Gabriel Capellà, Olivier Caron, Graham Casey, Min Hoe Chew, Yun‐Hee Choi, James M. Church, Mark Clendenning, Chrystelle Colas, Elisa J. Cops, Isabelle Coupier, Marcia Cruz‐Correa, Albert de la Chapelle, Niels de Wind, Tadeusz Dębniak, Adriana Della Valle, Capuccine Delnatte, Marion Dhooge, Mev Dominguez–Valentin, Youenn Drouet, Floor A.M. Duijkers, Christoph Engel, Patricia Esperón, D. Gareth Evans, Aı́da Falcón de Vargas, Jane C. Figueiredo, William D. Foulkes, Emmanuelle Fourme, Thierry Frébourg, Steven Gallinger, Pilar Garré, Maurizio Genuardi, Anne‐Marie Gerdes, Lauren M. Gima, Sophie Giraud, Annabel Goodwin, Heike Görgens, Kate Green, José G. Guillem, Carmen Guillén‐Ponce, Roselyne Guimbaud, Rodrigo Santa Cruz Guindalini, Elizabeth Half, Michael J. Hall, Heather Hampel, Thomas van Overeem Hansen, Karl Heinimann, Frederik J. Hes, James Hill, Judy Ho, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Robert Hüneburg, Vanessa Huntley, Paul A. James, Uffe Birk Jensen, Thomas John, Wan Khairunnisa Wan Juhari, Matthew F. Kalady, Fay Kastrinos, Matthias Kloor, Maija Kohonen‐Corish, Lotte Krogh, Sonia S. Kupfer, Uri Ladabaum, Kristina Lagerstedt‐Robinson, Fiona Lalloo

    Vydáno 2021
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  10. 10
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Autor Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    Vydáno 2020
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  11. 11
    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium Autor Pål Møller, Toni T. Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez–Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capellà, D. Gareth Evans, John Burn, Elke Holinski‐Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John‐Paul Plazzer, Rolf H. Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior H. Katz, Ido Laish, E Vainer, Carlos Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu‐Freha, Áine Stakelum, Rory Kennelly, D. C. Winter, Bernard Rossi, Marc S. Greenblatt, Mábel Bohórquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino‐Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana do Nascimento, Norma Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka‐Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Païvi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius‐Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke‐Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aı́da Falcón de Vargas, Andrew Latchford, Anne‐Marie Gerdes, A Bäckman, Carmen Guillén‐Ponce, Carrie Snyder, Charlotte Kvist Lautrup, David J. Amor, Edenir Inêz Palmero, Elena M. Stoffel, Floor A.M. Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette C. Reece, Joanne Ngeow, José G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene Juel Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija Kohonen‐Corish, Marjolijn J. L. Ligtenberg, Melissa C. Southey, Melyssa Aronson, Mohd Nizam Zahary, N. Jewel Samadder

    Vydáno 2022
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