Resultados de procura - Jet Bliek

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  1. 1
    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS por Jet Bliek, Saskia M. Maas, Jan M. Ruijter, Raoul C. M. Hennekam, Mariëlle Alders, A. Westerveld, Marcel M.A.M. Mannens

    Publicado 2001
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  2. 2
    Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.

    Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. por J.M.N. Hoovers, Linda M. Kalikin, Laura A. Johnson, Mariëlle Alders, B. Redeker, David Law, Jet Bliek, Marja Steenman, Mark Q. Benedict, J. Wiegant

    Publicado 1995
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  3. 3
    A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product

    A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product por Sophie Demolombe, Isabelle Baró, Yann Péréon, Jet Bliek, Raha Mohammad-Panah, H. Pollard, Shabnam Morid, M. Mannens, Arthur A.M. Wilde, Jacques Barhanin, Flavien Charpentier, Denis Escande

    Publicado 1998
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  4. 4
    The Human Chitotriosidase Gene

    The Human Chitotriosidase Gene por Rolf G. Boot, G. Herma Renkema, Marri Verhoek, Anneke Strijland, Jet Bliek, T.M.A.M.O. de Meulemeester, Marcel M.A.M. Mannens, Johannes M. F. G. Aerts

    Publicado 1998
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  5. 5
    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups por Saskia M. Maas, Fleur Vansenne, D.J. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M.A.M. Mannens, Johannes H. M. Merks, Eamonn R. Maher, Raoul C. M. Hennekam

    Publicado 2016
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  6. 6
    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells por Jet Bliek, Mariëlle Alders, Saskia M. Maas, Roelof‐Jan Oostra, Deborah Mackay, K. Lip, Johnatan L Callaway, Alice S. Brooks, Sandra van ‘t Padje, A. Westerveld, N. J. Leschot, Marcel M.A.M. Mannens

    Publicado 2009
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  7. 7
    Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

    Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype por Jet Bliek, Paulien A. Terhal, Marie-José van den Bogaard, Saskia M. Maas, Ben C.J. Hamel, Georgette B. Salieb–Beugelaar, Marleen Simon, Tom G.W. Letteboer, Jasper van der Smagt, Hester Kroes, Marcel M.A.M. Mannens

    Publicado 2006
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  8. 8
    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences por Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Pérez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer

    Publicado 2022
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  9. 9
    Epigenotype-phenotype correlations in Silver-Russell syndrome

    Epigenotype-phenotype correlations in Silver-Russell syndrome por Emma Wakeling, S. A. Amero, Mariëlle Alders, Jet Bliek, Elizabeth Forsythe, Sudhesh Kumar, Derek Lim, Fiona MacDonald, Deborah Mackay, Eamonn R. Maher, Gudrun E. Moore, RL Poole, S. M. Price, Trine Tangeraas, C. L. S. Turner, Mieke M. van Haelst, Catherine Willoughby, I. Karen Temple, J. M. Cobben

    Publicado 2010
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  10. 10
    Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

    Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus por Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine L Hill-Harfe, Saskia M. Maas, Suzanna G.M. Frints, Mariëlle Alders, Laura Pignata, Monica Franzese, Claudia Angelini, Diana Carli, Alessandro Mussa, Andrea Gazzin, Fulvio Gabbarini, Basilia Acurzio, Giovanni Battista Ferrero, Jet Bliek, Charles A. Williams, Andrea Riccio, Flavia Cerrato

    Publicado 2019
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  11. 11
    Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

    Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization por Janna A. Hol, Roland P. Kuiper, Freerk van Dijk, Esmé Waanders, Sophie E. van Peer, Marco J. Koudijs, Reno S. Bladergroen, Simon V. van Reijmersdal, Lionel Morgado, Jet Bliek, Maria Lombardi, Saskia Hopman, Jarno Drost, Ronald R. de Krijger, Marry M. van den Heuvel‐Eibrink, Marjolijn C.J. Jongmans

    Publicado 2022
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  12. 12
    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome por Jet Bliek, Gaetano Verde, Jonathan L A Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah Mackay, Andrea Riccio

    Publicado 2008
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  13. 13
    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome por Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth M. Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun E. Moore, Thalia Antoniadi, Fiona MacDonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R. Maher, Marcel M.A.M. Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah Mackay, Thomas Eggermann

    Publicado 2016
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  14. 14
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling por Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    Publicado 2015
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  15. 15
    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 por 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

    Publicado 2022
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  16. 16
    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 por 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

    Publicado 2024
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  17. 17
    Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

    Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor por Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A.S. Paul van Trotsenburg, Rendelien K. Verschoof‐Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp

    Publicado 2020
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  18. 18
    Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Diagnosis and management of Silver–Russell syndrome: first international consensus statement por Emma Wakeling, Frédéric Brioude, Oluwakemi Lokulo‐Sodipe, Susan O’Çonnell, Jennifer Ben Salem, Jet Bliek, Ana Pinheiro Machado Canton, Krystyńa Chrzańowska, Justin H. Davies, Renuka Dias, B. Dubern, Miriam Elbracht, Éloïse Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken‐Koelega, Alexander A.L. Jorge, Masayo Kagami, Agnès Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip Murray, Tsutomu Ogata, Isabelle Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah Mackay, Irène Netchine

    Publicado 2016
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  19. 19
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement por Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    Publicado 2018
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