Bilaketaren emaitzak - Jasmin Beygo

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  1. 1
    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes nork Jasmin Beygo, Karin Buiting, Simon Ramsden, Rachael Ellis, Jill Clayton‐Smith, Deniz Kanber

    Argitaratua 2019
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  2. 2
    Epigenetic germline mosaicism in infertile men

    Epigenetic germline mosaicism in infertile men nork Sandra Laurentino, Jasmin Beygo, Verena Nordhoff, Sabine Kliesch, Joachim Wistuba, Jennifer Borgmann, Karin Buiting, Bernhard Horsthemke, Jörg Gromoll

    Argitaratua 2014
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  3. 3
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains nork David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer

    Argitaratua 2016
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  4. 4
    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 nork Jasmin Beygo, Miriam Elbracht, Karel de Groot, Matthias Begemann, Deniz Kanber, Konrad Platzer, Gabriele Gillessen‐Kaesbach, Anne Vierzig, Andrew Green, Raoul Heller, Karin Buiting, Thomas Eggermann

    Argitaratua 2014
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  5. 5
    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites nork Jasmin Beygo, Valentina Citro, Angela Sparago, Agostina De Crescenzo, Flavia Cerrato, Melanie Heitmann, Katrin Rademacher, Andrea Guala, Thorsten Enklaar, Cecilia Anichini, Margherita Silengo, Notker Graf, Dirk Prawitt, Maria Vittoria Cubellis, Bernhard Horsthemke, Karin Buiting, Andrea Riccio

    Argitaratua 2012
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  6. 6
    Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

    Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study nork Sümeyye Cöktü, Claudia Spix, Melanie Kaiser, Jasmin Beygo, Stephanie Kleinle, Nadine Bachmann, Nicolai Kohlschmidt, Dirk Prawitt, Alf Beckmann, Ruediger Klaes, Claudia Nevinny‐Stickel‐Hinzpeter, Steffi Döhnert, Cornelia Kraus, Gundula Kadgien, Inga Vater, Saskia Biskup, Michael Kutsche, Jürgen Kohlhase, Thomas Eggermann, Martin Zenker, Christian P. Kratz

    Argitaratua 2020
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  7. 7
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans nork Louise E Docherty, Faisal I. Rezwan, Rebecca Poole, Claire Turner, Emma Kivuva, Eamonn R. Maher, Sarah Smithson, Julian Hamilton‐Shield, Michał Patalan, Maria Giżewska, Jarosław Peregud‐Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma L. Baple, Sahar Mansour, I. Karen Temple, Deborah Mackay

    Argitaratua 2015
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  8. 8
    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders nork Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio, Arrate Pereda, Frédéric Brioude, Irène Netchine, Dzhoy Papingi, Elisa De Franco, Margaret Lever, Julie Sillibourne, Paola Lombardi, Véronique Gaston, Maïthé Tauber, Gwénaëlle Diene, Éric Bieth, Luis Carlos Sainz Fernandez, Julián Nevado, Zeynep Tümer, Andrea Riccio, Eamonn R. Maher, Jasmin Beygo, Pierpaola Tannorella, Silvia Russo, Guiomar Pérez de Nanclares, I. Karen Temple, Tsutomu Ogata, Pablo Lapunzina, Thomas Eggermann

    Argitaratua 2022
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  9. 9
    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring nork Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl‐Jaschkowitz, Claire Turner, Michał Patalan, Maria Giżewska, Gerhard Binder, Cấn Thị Bích Ngọc, Vũ Chí Dũng, Sarju Mehta, Gareth Baynam, Julian Hamilton‐Shield, Sara Aljareh, Oluwakemi Lokulo‐Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I. Karen Temple, Thomas Eggermann, Deborah Mackay

    Argitaratua 2018
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  10. 10
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis nork Deborah Mackay, Gabriella Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, I. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, África Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, I. Karen Temple, Katrin Õunap, Andrea Riccio, Guiomar Pérez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Argitaratua 2024
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  11. 11
    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals nork Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, Tzung‐Chien Hsieh, Alexandra Afenjar, Stefanie Beck‐Wödl, Ute Grasshoff, Tobias B. Haack, Emilia K. Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K. Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch‐Hogrebe, Kevin Rostásy, Vanesa López‐González, María José Sánchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J. Kaiser, Alma Kuechler

    Argitaratua 2023
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