Resultados de procura - Thomas P. Potjer

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  1. 1
    Loss-of-Function Mutations in the Cell-Cycle Control Gene <i>CDKN2A</i> Impact on Glucose Homeostasis in Humans

    Loss-of-Function Mutations in the Cell-Cycle Control Gene <i>CDKN2A</i> Impact on Glucose Homeostasis in Humans por Aparna Pal, Thomas P. Potjer, Soren K. Thomsen, Hui Jin Ng, Amy Barrett, Raphaël Scharfmann, Tim James, D. Timothy Bishop, Fredrik Karpe, Ian F. Godsland, Hans F. A. Vasen, Julia Newton‐Bishop, Hanno Pijl, Mark I. McCarthy, Anna L. Gloyn

    Publicado 2015
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  2. 2
    Pancreatic Cancer Surveillance in Carriers of a Germline <i>CDKN2A</i> Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up

    Pancreatic Cancer Surveillance in Carriers of a Germline <i>CDKN2A</i> Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up por Derk C.F. Klatte, Bas Boekestijn, Martin N.J.M. Wasser, Shirin Feshtali Shahbazi, Isaura S. Ibrahim, J. Sven D. Mieog, Saskia Luelmo, Hans Morreau, Thomas P. Potjer, Akin Inderson, Jurjen J. Boonstra, Friedo W. Dekker, Hans F. A. Vasen, Jeanin E. van Hooft, Bert A. Bonsing, Monique E. van Leerdam

    Publicado 2022
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  3. 3
    Surveillance for Pancreatic Cancer in High-Risk Individuals Leads to Improved Outcomes: A Propensity Score-Matched Analysis

    Surveillance for Pancreatic Cancer in High-Risk Individuals Leads to Improved Outcomes: A Propensity Score-Matched Analysis por Derk C.F. Klatte, Bas Boekestijn, Anke M. Onnekink, Friedo W. Dekker, Lydia G. van der Geest, Martin N.J.M. Wasser, Shirin Feshtali, J. Sven D. Mieog, Saskia Luelmo, Hans Morreau, Thomas P. Potjer, Akin Inderson, Jurjen J. Boonstra, Hans F. A. Vasen, Jeanin E. van Hooft, Bert A. Bonsing, Monique E. van Leerdam

    Publicado 2023
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  4. 4
    Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

    Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines por Cindy Chau, Remco van Doorn, Natasha M. van Poppelen, Nienke van der Stoep, Arjen R. Mensenkamp, Rolf H. Sijmons, Barbara W. van Paassen, Ans M.W. van den Ouweland, Nicole C. Naus, Annemieke H. van der Hout, Thomas P. Potjer, Fonnet E. Bleeker, Marijke R. Wevers, Liselotte P. van Hest, Marjolijn C.J. Jongmans, Marina Marinkovic, Jaco C. Bleeker, Martine J. Jager, Gregorius P. M. Luyten, Maartje Nielsen

    Publicado 2019
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  5. 5
    Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers

    Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers por Hans F. A. Vasen, Isaura S. Ibrahim, Carmen Guillén‐Ponce, Emily P. Slater, Elvira Matthäi, Alfredo Carrato, Julie Earl, Kristin Robbers, Anneke M. van Mil, Thomas P. Potjer, Bert A. Bonsing, Wouter H. de Vos tot Nederveen Cappel, Wilma Bergman, Martin N.J.M. Wasser, Hans Morreau, Günter Klöppel, Christoph Schicker, Martin Steinkamp, Jens Figiel, Iréne Esposito, Evelina Mocci, Enrique Vázquez-Sequeiros, Alfonso Sanjuánbenito, Maria Muñoz-Beltran, José Montáns, Peter Langer, Volker Fendrich, Detlef K. Bartsch

    Publicado 2016
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  6. 6
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation por Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    Publicado 2016
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  7. 7
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles por Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Publicado 2024
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