Ohcanbohtosat - Deborah Krakow

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  1. 1
    Skeletal Dysplasias

    Skeletal Dysplasias Dahkki Deborah Krakow

    Almmustuhtton 2015
    Viečča ollesdeavstta
    Revisão
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  2. 2
    Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

    Guidelines for the prenatal diagnosis of fetal skeletal dysplasias Dahkki Deborah Krakow, Ralph S. Lachman, David L. Rimoin

    Almmustuhtton 2009
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  3. 3
    Fibroblast Growth Factors 1, 2, 17, and 19 Are the Predominant FGF Ligands Expressed in Human Fetal Growth Plate Cartilage

    Fibroblast Growth Factors 1, 2, 17, and 19 Are the Predominant FGF Ligands Expressed in Human Fetal Growth Plate Cartilage Dahkki Pavel Krejčı́, Deborah Krakow, Pertchoui B. Mekikian, William R. Wilcox

    Almmustuhtton 2007
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  4. 4
    Genetic evaluation of suspected osteogenesis imperfecta (OI)

    Genetic evaluation of suspected osteogenesis imperfecta (OI) Dahkki Peter H. Byers, Deborah Krakow, Mark E. Nuñes, Melanie Pepin

    Almmustuhtton 2006
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  5. 5
    The Erlenmeyer flask bone deformity in the skeletal dysplasias

    The Erlenmeyer flask bone deformity in the skeletal dysplasias Dahkki Maha Faden, Deborah Krakow, Fatih Süheyl Ezgü, David L. Rimoin, Ralph S. Lachman

    Almmustuhtton 2009
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    Revisão
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  6. 6
    Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias

    Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias Dahkki Deborah Krakow, John Williams, M. Poehl, David L. Rimoin, Lawrence D. Platt

    Almmustuhtton 2003
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  7. 7
    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome Dahkki Katherine Dawson, Petra Seeman, Eiman Sebald, Lily King, Matthew Edwards, John Williams, Stefan Mundlos, Deborah Krakow

    Almmustuhtton 2006
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    Artigo
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  8. 8
    Dominance of SOX9 function over RUNX2 during skeletogenesis

    Dominance of SOX9 function over RUNX2 during skeletogenesis Dahkki Guang Zhou, Qiping Zheng, Feyza Engin, Elda Munivez, Yuqing Chen, Eiman Sebald, Deborah Krakow, Brendan Lee

    Almmustuhtton 2006
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    Artigo
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  9. 9
    Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

    Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis Dahkki Deborah Krakow, Yasemin Alanay, Lauren Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

    Almmustuhtton 2008
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    Artigo
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  10. 10
    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome Dahkki Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Deborah Krakow, Daniel H. Cohn

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  11. 11
    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis Dahkki Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Errata/Corrigenda
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  12. 12
    Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

    Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia Dahkki William R. Wilcox, Patricia L. Tavormina, Deborah Krakow, Hiroshi Kitoh, Ralph S. Lachman, John J. Wasmuth, Leslie M. Thompson, David L. Rimoin

    Almmustuhtton 1998
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  13. 13
    Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia

    Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia Dahkki Natalia Camacho, Deborah Krakow, Sharlin Johnykutty, Philip J. Katzman, Samuel H. Pepkowitz, Joris Vriens, Bernd Nilius, Brendan F. Boyce, Daniel H. Cohn

    Almmustuhtton 2010
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    Artigo
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  14. 14
    Patient-Derived Skeletal Dysplasia Induced Pluripotent Stem Cells Display Abnormal Chondrogenic Marker Expression and Regulation by<i>BMP2</i>and<i>TGFβ1</i>

    Patient-Derived Skeletal Dysplasia Induced Pluripotent Stem Cells Display Abnormal Chondrogenic Marker Expression and Regulation by<i>BMP2</i>and<i>TGFβ1</i> Dahkki B. Saitta, Jenna Passarini, Dhruv Sareen, Loren Ornelas, Anais Sahabian, Shilpa Argade, Deborah Krakow, Daniel H. Cohn, Clive N. Svendsen, David L. Rimoin

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
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  15. 15
    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis Dahkki Hane Lee, John M. Graham, David L. Rimoin, Ralph S. Lachman, Pavel Krejčı́, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, Daniel H. Cohn

    Almmustuhtton 2012
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  16. 16
    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen Dahkki Iván Durán, Lisette Nevarez, Anna Sarukhanov, Sulin Wu, Katrina Lee, Pavel Krejčı́, MaryAnn Weis, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    Almmustuhtton 2014
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  17. 17
    Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

    Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome Dahkki Iván Durán, S. Paige Taylor, Wenjuan Zhang, Jorge Martı́n, Kimberly N. Forlenza, Rhonda Spiro, Deborah A. Nickerson, Michael J. Bamshad, Daniel H. Cohn, Deborah Krakow

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  18. 18
    A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

    A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan Dahkki Stuart W. Tompson, Barry Merriman, Vincent Funari, Maryline Fresquet, Ralph S. Lachman, David L. Rimoin, Stanley F. Nelson, Michael D. Briggs, Daniel H. Cohn, Deborah Krakow

    Almmustuhtton 2008
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  19. 19
    TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions

    TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions Dahkki Jennifer Zieba, Kimberly N. Forlenza, Jagteshwar Singh Khatra, Anna Sarukhanov, Iván Durán, Diana Rigueur, Karen M. Lyons, Daniel H. Cohn, Amy E. Merrill, Deborah Krakow

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  20. 20
    RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape

    RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape Dahkki Olivia Gay, Benoît Gilquin, Fumihiko Nakamura, Zandra A. Jenkins, Rosannah McCartney, Deborah Krakow, Alexandre Deshière, Nicole Assard, John H. Hartwig, Stephen P. Robertson, Jacques Baudier

    Almmustuhtton 2011
    Viečča ollesdeavstta
    Artigo
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