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Human Achondroplasia

A Multidisciplinary Approach

  • Book
  • © 1988

Overview

Editors:
  1. Benedetto Nicoletti

    1. Second University of Rome, Rome, Italy

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  2. Steven E. Kopits

    1. International Center for Skeletal Dysplasia, St. Joseph Hospital and The Johns Hopkins University, Baltimore, USA

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  3. Elio Ascani

    1. Institute of Research, Bambino Gesù Hospital, Rome, Italy

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  4. Victor A. McKusick

    1. The Johns Hopkins University, Baltimore, USA

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  5. Shona C. Dryburgh
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Part of the book series: Basic Life Sciences (BLSC, volume 48)

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Table of contents (59 chapters)

  1. Front Matter

    Pages i-xxi
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  2. Genetics, Ultrastructure and Cartilage Histochemistry

    1. Front Matter

      Pages 1-1
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    2. The Natural History of Achondroplasia

      • Judith G. Hall
      Pages 3-9

    3. Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects

      • G. Camera, P. Mastroiacovo
      Pages 11-15

    4. Premutation in Achondroplasia

      • John M. Opitz
      Pages 17-25

    5. Achondroplasia — A Clinician’s Viewpoint

      • P. Maroteaux
      Pages 27-29

    6. Radiologic Features of Achondroplasia

      • Frederic N. Silverman
      Pages 31-44

    7. Osteogenesis Imperfecta — A Model for the Analysis of Inborn Errors of Connective Tissue

      • F. Ramirez
      Pages 45-51

    8. Molecular Genetic Studies in Achondroplasia

      • Clair A. Francomano, Phan-Lan Le, Reed E. Pyeritz
      Pages 53-58

    9. Molecular Studies in Achondroplasia using Co12A1 Probes

      • Charles M. Strom
      Pages 59-60

    10. Histochemical and Ultrastructural Study of the Growth Plate in Achondroplasia

      • E. Ippolito, J. A. Maynard, M. R. Mickelson, I. V. Ponseti
      Pages 61-71

    11. Gene Expression in the Early Mouse Embryo and Cultured Cells

      • Markku Kurkinen
      Pages 73-80

    12. Growth Plate Cartilage Studies in Achondroplasia

      • William A. Horton, O. Jean Hood, Mirta A. Machado, Dianna Campbell
      Pages 81-89

    13. Achondroplastic Mice: Morphological Investigations of Epiphyseal Cartilage and Bone

      • Ermanno Bonucci, Benedetto Nicoletti
      Pages 91-96

    14. Collagen Distribution in Endochondral Cartilage Obtained in Vitro from Dedifferentiated Cells

      • C. Tacchetti, R. Quarto, R. Cancedda
      Pages 97-99

  3. Clinical Findings, Growth Disorders, and Anaesthesiological Problems

    1. Front Matter

      Pages 101-101
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    2. The Skull in Achondroplasia

      • Jürgen Spranger
      Pages 103-107

    3. Bone Formation in Achondroplasia

      • Ignacio V. Ponseti
      Pages 109-122

    4. Clinical Variability in Achondroplasia

      • David L. Rimoin
      Pages 123-127

    5. GH Therapy in Two Patients with Osteochondrodysplasia

      • E. Cacciari, P. Pirazzoli, M. Mandini
      Pages 129-133
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Keywords

Editors and Affiliations

  • Second University of Rome, Rome, Italy

    Benedetto Nicoletti

  • International Center for Skeletal Dysplasia, St. Joseph Hospital and The Johns Hopkins University, Baltimore, USA

    Steven E. Kopits

  • Institute of Research, Bambino Gesù Hospital, Rome, Italy

    Elio Ascani

  • The Johns Hopkins University, Baltimore, USA

    Victor A. McKusick

Bibliographic Information

  • Book Title: Human Achondroplasia

  • Book Subtitle: A Multidisciplinary Approach

  • Editors: Benedetto Nicoletti, Steven E. Kopits, Elio Ascani, Victor A. McKusick, Shona C. Dryburgh

  • Series Title: Basic Life Sciences

  • DOI: https://doi.org/10.1007/978-1-4684-8712-1

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: Plenum Press, New York 1988

  • Softcover ISBN: 978-1-4684-8714-5Published: 26 April 2012

  • eBook ISBN: 978-1-4684-8712-1Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: 514

  • Topics: Human Genetics, Animal Anatomy / Morphology / Histology, Plant Sciences

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