Resultados da busca - Richard J.L.F. Lemmers

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  1. 1
    Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

    Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis por Richard J.L.F. Lemmers

    Publicado em 1998
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  2. 2
    Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

    Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands por Richard J.L.F. Lemmers, Suzanne O’Shea, George W. Padberg, Peter Lunt, Silvère M. van der Maarel

    Publicado em 2011
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  3. 3
    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle por Zizhen Yao, Lauren Snider, Judit Balog, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil, Stephen J. Tapscott

    Publicado em 2014
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  4. 4
    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats por Jeffrey Statland, Colleen M. Donlin‐Smith, Stephen J. Tapscott, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil

    Publicado em 2015
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  5. 5
    A focal domain of extreme demethylation within D4Z4 in FSHD2

    A focal domain of extreme demethylation within D4Z4 in FSHD2 por Lynn M. Hartweck, Lindsey Anderson, Richard J.L.F. Lemmers, Abhijit Dandapat, Erik A. Toso, Joline Dalton, Rabi Tawil, John Day, Silvère M. van der Maarel, Michael Kyba

    Publicado em 2013
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  6. 6
    Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

    Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity por Sabrina Sacconi, Pilar Camaño, Jessica C. de Greef, Richard J.L.F. Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo López de Munaín Arregui, Silvère M. van der Maarel, Claude Desnuelle

    Publicado em 2011
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  7. 7
    Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

    Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution por Richard J.L.F. Lemmers, Patrick J. van der Vliet, Kristiaan J. van der Gaag, Sofia B. Zuniga, Rune R. Frants, Peter de Knijff, Silvère M. van der Maarel

    Publicado em 2010
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  8. 8
    Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

    Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene por Lauren Snider, Linda N. Geng, Richard J.L.F. Lemmers, Michael Kyba, Carol B. Ware, Angelique M. Nelson, Rabi Tawil, Galina N. Filippova, Silvère M. van der Maarel, Stephen J. Tapscott, Daniel G. Miller

    Publicado em 2010
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  9. 9
    Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

    Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy por Richard J.L.F. Lemmers, Mariëlle Wohlgemuth, Kristiaan J. van der Gaag, Patrick J. van der Vliet, Corrie M.M. van Teijlingen, Peter de Knijff, George W. Padberg, Rune R. Frants, Silvère M. van der Maarel

    Publicado em 2007
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  10. 10
    Adding quantitative muscle MRI to the FSHD clinical trial toolbox

    Adding quantitative muscle MRI to the FSHD clinical trial toolbox por Karlien Mul, Sanne C. C. Vincenten, Nicol C. Voermans, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Silvère M. van der Maarel, George W. Padberg, Corinne G.C. Horlings, Baziel G.M. van Engelen

    Publicado em 2017
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  11. 11
    Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I

    Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I por Angela Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Eleonora Torchia, Giorgio Tasca, Luísa Villa, Michele Cavalli, Leonardo Salviati, Patrick J. van der Vliet, Richard J.L.F. Lemmers, Jonathan Pini, Silvère M. van der Maarel, Sabrina Sacconi

    Publicado em 2025
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  12. 12
    RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

    RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy por Lauren Snider, Amy Asawachaicharn, Ashlee E. Tyler, Linda N. Geng, Lisa M. Petek, Lisa Maves, Daniel G. Miller, Richard J.L.F. Lemmers, Sara T. Winokur, Rabi Tawil, Silvère M. van der Maarel, Galina N. Filippova, Stephen J. Tapscott

    Publicado em 2009
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  13. 13
    De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

    De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes... por Silvère M. van der Maarel, G. Deidda, Richard J.L.F. Lemmers, Petra G.M. van Overveld, Michiel van der Wielen, Jane Hewitt, Lodewijk A. Sandkuijl, Egbert Bakker, Gert‐Jan B. van Ommen, George W. Padberg, Rune R. Frants

    Publicado em 2000
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  14. 14
    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 por Judit Balog, Peter Thijssen, Sean Shadle, Kirsten R. Straasheijm, Patrick J. van der Vliet, Yvonne D. Krom, Marlinde L. van den Boogaard, Annika de Jong, Richard J.L.F. Lemmers, Rabi Tawil, Stephen J. Tapscott, Silvère M. van der Maarel

    Publicado em 2015
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  15. 15
    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy

    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy por Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J.L.F. Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, S. Noguchi, Yukiko Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M. van der Maarel

    Publicado em 2020
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  16. 16
    Identification of a potential physiological precursor of aberrant cells in refractory coeliac disease type II

    Identification of a potential physiological precursor of aberrant cells in refractory coeliac disease type II por Frederike Schmitz, Jennifer M.L. Tjon, Yuching Lai, Allan Thompson, Yvonne Kooy–Winkelaar, Richard J.L.F. Lemmers, Hein W. Verspaget, M. Luisa Mearin, Frank J. T. Staal, Marco W.J. Schreurs, Tom Cupedo, Anton W. Langerak, Chris J. Mulder, Jeroen van Bergen, Frits Koning

    Publicado em 2012
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  17. 17
    A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

    A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy por Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, G J van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, Silvère M. van der Maarel

    Publicado em 2010
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  18. 18
    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 por Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati, Alberto Casarin, Elena Pegoraro, Rabi Tawil, Egbert Bakker, Stephen J. Tapscott, Claude Desnuelle, Silvère M. van der Maarel

    Publicado em 2013
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  19. 19
    Clinical features of facioscapulohumeral muscular dystrophy 2

    Clinical features of facioscapulohumeral muscular dystrophy 2 por Jessica C. de Greef, Richard J.L.F. Lemmers, Pilar Camaño, John Day, Sabrina Sacconi, M. Dunand, Baziel G.M. van Engelen, Sari Kiuru‐Enari, G.W. Padberg, Alberto L. Rosa, Claude Desnuelle, Simone Spuler, Mark A. Tarnopolsky, Shannon L. Venance, Rune R. Frants, Silvère M. van der Maarel, Rabi Tawil

    Publicado em 2010
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  20. 20
    Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

    Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation por Kelan Chen, Jiang Hu, Darcy Moore, Ruijie Liu, Sarah A. Kessans, Kelsey Breslin, Isabelle S. Lucet, Andrew Keniry, Huei San Leong, Clare L. Parish, Douglas J. Hilton, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Peter E. Czabotar, Renwick C. J. Dobson, Matthew E. Ritchie, Graham F. Kay, James M. Murphy, Marnie E. Blewitt

    Publicado em 2015
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