Search Results - Deborah Krakow

Refine Results
  1. 1
    Skeletal Dysplasias

    Skeletal Dysplasias by Deborah Krakow

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

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

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Pavel Krejčı́, Deborah Krakow, Pertchoui B. Mekikian, William R. Wilcox

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Genetic evaluation of suspected osteogenesis imperfecta (OI)

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

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    The Erlenmeyer flask bone deformity in the skeletal dysplasias

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

    Published 2009
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by Deborah Krakow, John Williams, M. Poehl, David L. Rimoin, Lawrence D. Platt

    Published 2003
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

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

    Published 2006
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Dominance of SOX9 function over RUNX2 during skeletogenesis

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

    Published 2006
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Deborah Krakow, Yasemin Alanay, Lauren Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Deborah Krakow, Daniel H. Cohn

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

    Published 2016
    Get full text Get full text
    Errata/Corrigenda
    Save to List
    Saved in:
  12. 12
    Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

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

    Published 1998
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Dominant <i>TRPV4</i> mutations in nonlethal and lethal metatropic dysplasia

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

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  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> by B. Saitta, Jenna Passarini, Dhruv Sareen, Loren Ornelas, Anais Sahabian, Shilpa Argade, Deborah Krakow, Daniel H. Cohn, Clive N. Svendsen, David L. Rimoin

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

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

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

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

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: