Výsledky vyhledávání - M.H. Breuning

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  1. 1
    Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease

    Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease Autor Jan M. Cobben, M.H. Breuning, Coen Schoots, Leo P. ten Kate, Klaus Zerres

    Vydáno 1990
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  2. 2
    Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

    Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2 Autor Yves Pirson, N. Lannoy, Dorien J.M. Peters, A Geubel, J. F. Gigot, M.H. Breuning, C. Verellen‐Dumoulin

    Vydáno 1996
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  3. 3
    Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

    Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice Autor Irma S Lantinga‐van Leeuwen, Wouter N. Leonhard, Annemieke van der Wal, M.H. Breuning, Emile de Heer, Dorien J.M. Peters

    Vydáno 2007
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  4. 4
    Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

    Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 Autor Deborah Bartholdi, Jeroen Roelfsema, Francesco Papadia, M.H. Breuning, Dunja Niedrist, Raoul C. M. Hennekam, Albert Schinzel, Dorien J.M. Peters

    Vydáno 2007
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  5. 5
    Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.

    Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Autor Stephen T. Reeders, M.H. Breuning, G. CORNEY, S.J. Jeremiah, P. Meera Khan, Kay E. Davies, D. A. HOPKINSON, P. Pearson, D. J. Weatherall

    Vydáno 1986
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  6. 6
    Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways

    Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways Autor H. Kevin Happe, Wouter N. Leonhard, Annemieke van der Wal, Bob van de Water, Irma S Lantinga‐van Leeuwen, M.H. Breuning, Emile de Heer, Dorien J.M. Peters

    Vydáno 2009
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  7. 7
    Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

    Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). Autor M.H. Breuning, F.G.M. Snijdewint, HG Brunner, A. Verwest, Jacob W. IJdo, Jasper J. Saris, Johannes G. Dauwerse, Lau Blonden, Tim P. Keith, David F. Callen

    Vydáno 1990
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  8. 8
    Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease

    Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease Autor Wendy E. Boertien, Esther Meijer, Debbie Zittema, Marjan A. van Dijk, Ton J. Rabelink, M.H. Breuning, J. Struck, Stephan J. L. Bakker, Dorien J.M. Peters, Paul E. de Jong, Ron T. Gansevoort

    Vydáno 2012
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  9. 9
    A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

    A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor Autor M.J.E. Walenkamp, H.J. van der Kamp, Alberto M. Pereira, Sarina G. Kant, Hermine A. van Duyvenvoorde, M. Femke Kruithof, M.H. Breuning, Johannes A. Romijn, Marcel Karperien, J. M. Wit

    Vydáno 2006
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  10. 10
    A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

    A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2) Autor Barbera Veldhuisen, Jasper J. Saris, Simone de Haij, Tomohito Hayashi, David M. Reynolds, Toshio Mochizuki, R Elles, Ragnheiður Fossdal, Nadja Bogdanova, Marjan A. van Dijk, Eliécer Coto, David Ravine, Søren Nørby, C. Verellen‐Dumoulin, M.H. Breuning, Stefan Somlo, Dorien J.M. Peters

    Vydáno 1997
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  11. 11
    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 Autor Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H. A. M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, M.H. Breuning, Karl‐Heinz Grzeschik, Jan C. Oosterwijk, Johan T. den Dunnen

    Vydáno 2010
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  12. 12
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant Autor Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    Vydáno 2008
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  13. 13
    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

    Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals Autor Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Dietje E. Fransen van de Putte, Britt‐Marie Anderlid, Johanna Lundin, Pablo Lapunzina, L.A. Pérez Jurado, Barbara Delle Chiaie, Bart Loeys, Björn Menten, Anna Oostra, Hélène Verhelst, David J. Amor, Damien L. Bruno, A.J. van Essen, Roel Hordijk, Birgit Sikkema‐Raddatz, K. T. Verbruggen, M.C.J. Jongmans, Rolph Pfundt, H.M. Reeser, M.H. Breuning, Claudia Ruivenkamp

    Vydáno 2009
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  14. 14
    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

    The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients Autor Sjoerd D. Joustra, Nadia Schoenmakers, Luca Persani, Irene Campi, Marco Bonomi, Giorgio Radetti, P. Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Yu Sun, Eleonora P.M. Corssmit, Natasha M. Appelman‐Dijkstra, Charlotte A. Heinen, Alberto M. Pereira, Aimee J. Varewijck, J. A. M. J. L. Janssen, Erik Endert, Raoul C. M. Hennekam, Maria Lombardi, Marcel M.A.M. Mannens, Beata Bąk, Daniel J. Bernard, M.H. Breuning, Krishna Chatterjee, Mehul Dattani, Wilma Oostdijk, Nienke R. Biermasz, Jan M. Wit, A.S. Paul van Trotsenburg

    Vydáno 2013
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