Výsledky vyhledávání - Martijn H. Breuning

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  1. 1
    Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

    Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) Autor Barbera Veldhuisen, Lia Spruit, Hans G. Dauwerse, Martijn H. Breuning, Dorien J.M. Peters

    Vydáno 1999
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  2. 2
    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses Autor Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Egbert Bakker, Martijn H. Breuning, Johan T. den Dunnen

    Vydáno 2004
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  3. 3
    Comparison between siblings and twins supports a role for modifier genes in ADPKD

    Comparison between siblings and twins supports a role for modifier genes in ADPKD Autor Alexandre Persu, M. Duyme, Yves Pirson, Xosé M. Lens, T. Messiaen, Martijn H. Breuning, Dominique Chauveau, Micheline Lévy, Jean‐Pierre Grünfeld, Olivier Devuyst

    Vydáno 2004
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  4. 4
    Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease

    Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease Autor Wouter N. Leonhard, Malu Zandbergen, Kimberley Veraar, Susan Berg, Louise van der Weerd, Martijn H. Breuning, Emile de Heer, Dorien J.M. Peters

    Vydáno 2014
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  5. 5
    Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH

    Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH Autor Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Károly Szuhai

    Vydáno 2007
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  6. 6
    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase Autor Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, M.E. Kalf, Károly Szuhai, Johan T. den Dunnen, Martijn H. Breuning, Raoul C. M. Hennekam

    Vydáno 2006
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  7. 7
    Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney Disease

    Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney Disease Autor Zlata Novalić, Annemieke M. van der Wal, Wouter N. Leonhard, Gudrun E. Koehl, Martijn H. Breuning, Edward K. Geissler, Emile de Heer, Dorien J.M. Peters

    Vydáno 2012
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  8. 8
    Pathogenic Sequence for Dissecting Aneurysm Formation in a Hypomorphic Polycystic Kidney Disease 1 Mouse Model

    Pathogenic Sequence for Dissecting Aneurysm Formation in a Hypomorphic Polycystic Kidney Disease 1 Mouse Model Autor Sabrine Hassane, Nanna Claij, Irma S Lantinga‐van Leeuwen, J. Conny van Munsteren, Natascha van Lent, Roeland Hanemaaijer, Martijn H. Breuning, Dorien J.M. Peters, Marco C. DeRuiter

    Vydáno 2007
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  9. 9
    Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

    Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization Autor Stefan J. White, M.E. Kalf, Qiang Liu, Michel P Villerius, Dieuwke Engelsma, Marjolein Kriek, Ellen Vollebregt, Egbert Bakker, Gert‐Jan B. van Ommen, Martijn H. Breuning, Johan T. den Dunnen

    Vydáno 2002
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  10. 10
    Conventional and Tissue Microarray Immunohistochemical Expression Analysis of Mismatch Repair in Hereditary Colorectal Tumors

    Conventional and Tissue Microarray Immunohistochemical Expression Analysis of Mismatch Repair in Hereditary Colorectal Tumors Autor Yvonne Hendriks, Patrick Franken, Jan Willem F Dierssen, Wiljo de Leeuw, Juul Wijnen, Enno Dreef, Carli Tops, Martijn H. Breuning, Annette Bröcker‐Vriends, Hans F. A. Vasen, Riccardo Fodde, Hans Morreau

    Vydáno 2003
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  11. 11
    Elevated TGFβ–Smad signalling in experimental <i>Pkd1</i> models and human patients with polycystic kidney disease

    Elevated TGFβ–Smad signalling in experimental <i>Pkd1</i> models and human patients with polycystic kidney disease Autor Sabrine Hassane, Wouter N. Leonhard, Annemieke van der Wal, Lukas J.A.C. Hawinkels, Irma S Lantinga‐van Leeuwen, Peter ten Dijke, Martijn H. Breuning, Emile de Heer, Dorien J.M. Peters

    Vydáno 2010
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  12. 12
    Spectrum of Mutations in the Batten Disease Gene, CLN3

    Spectrum of Mutations in the Batten Disease Gene, CLN3 Autor Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe, John W. Anderson, Rose-Mary Boustany, Terry J. Lerner, Peter E.M. Taschner, Nanneke de Vos, Martijn H. Breuning, R. Mark Gardiner, Sara Mole

    Vydáno 1997
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  13. 13
    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first Autor Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp

    Vydáno 2009
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  14. 14
    Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL

    Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL Autor Michael Liem, Jeroen van der Grond, Joost Haan, Rivka van den Boom, Michel D. Ferrari, Yvette M. Knaap, Martijn H. Breuning, Mark A. van Buchem, Huub A. M. Middelkoop, Saskia A.J. Lesnik Oberstein

    Vydáno 2007
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  15. 15
    The clinical spectrum of complete FBN1 allele deletions

    The clinical spectrum of complete FBN1 allele deletions Autor Yvonne Hilhorst‐Hofstee, Ben C.J. Hamel, Joanne Verheij, M Rijlaarsdam, Grazia M.S. Mancini, Jan M. Cobben, Cindy Giroth, Claudia AL Ruivenkamp, Kerstin Hansson, Janneke Timmermans, Henriëtte A. Moll, Martijn H. Breuning, Gerard Pals

    Vydáno 2010
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  16. 16
    Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

    Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease Autor Alex Odermatt, Peter E.M. Taschner, Stephen W. Scherer, Barbara Beatty, Vijay K. Khanna, David R. Cornblath, Vinay Chaudhry, Won-Chee Yee, Bertold Schrank, George Karpati, Martijn H. Breuning, Nine Knoers, David H. MacLennan

    Vydáno 1997
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  17. 17
    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Autor Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Martijn H. Breuning, Raoul C. M. Hennekam, Dorien J.M. Peters

    Vydáno 2005
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  18. 18
    Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

    Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease Autor Irma S Lantinga‐van Leeuwen, Johannes G. Dauwerse, Hans J. Baelde, Wouter N. Leonhard, Annemieke van de Wal, Christopher J. Ward, Sjef Verbeek, Marco C. DeRuiter, Martijn H. Breuning, Emile de Heer, Dorien J.M. Peters

    Vydáno 2004
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  19. 19
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene Autor Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    Vydáno 2010
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  20. 20
    Unified Criteria for Ultrasonographic Diagnosis of ADPKD

    Unified Criteria for Ultrasonographic Diagnosis of ADPKD Autor York Pei, James Obaji, Annie Dupuis, Andrew D. Paterson, Riccardo Magistroni, Elizabeth Dicks, Patrick S. Parfrey, B. Cramer, Eliécer Coto, Roser Torrá, José L. San Millán, Robert N. Gibson, Martijn H. Breuning, Dorien J.M. Peters, David Ravine

    Vydáno 2008
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