Connective tissue and its heritable disorders: molecular, genetic, and medical aspects
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
New York
Wiley-Liss
2002
|
| Edition: | 2. ed. |
| Subjects: | |
| Online Access: | Table of contents Inhaltsverzeichnis |
| Item Description: | Includes bibliographical references and index |
| Physical Description: | XVII, 1201 S. Ill., graph. Darst. |
| ISBN: | 0471251852 |
Staff View
MARC
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| 245 | 1 | 0 | |a Connective tissue and its heritable disorders |b molecular, genetic, and medical aspects |c ed. by Peter M. Royce ... |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a New York |b Wiley-Liss |c 2002 | |
| 300 | |a XVII, 1201 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 500 | |a Includes bibliographical references and index | ||
| 650 | 4 | |a Connective Tissue Diseases |x genetics | |
| 650 | 4 | |a Connective Tissue |x anatomy & histology | |
| 650 | 4 | |a Connective tissues |x Diseases |x Genetic aspects | |
| 650 | 4 | |a Connective tissues |x Diseases |x Molecular aspects | |
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| 700 | 1 | |a Royce, Peter M. |e Sonstige |4 oth | |
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| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009887389&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
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Record in the Search Index
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| adam_text | Contents
Preface Peter M. Royce and Beat Steinmann ix
Acknowledgments xi
Preface to the First Edition Peter M. Royce and Beat Steinmann xiii
Contributors xv
Introduction Research on Collagen in the Author s Laboratory,
1952 1982
Karl A. Piez 1
Heritable Disorders of Connective Tissue: A
Personal Account of the Origins, Evolution,
Validation, and Expansion of a Concept
Victor A. McKusick 13
BIOLOGY OF EXTRACELLULAR MATRIX
Chapter 7 Morphology and Chemical Composition of
Connective Tissue
Part I Structure of the Skin and Tendon
Karen A. Holbrook and Lynne T. Smith 19
Part II Cartilage
Nicholas P. Morris, Douglas R. Keene, and William
A. Horton 41
Part III Bone
Robert K. Schenk, Willy Hofstetter, and Rolf Felix 67
Part IV The Cardiovascular System
Daniela Quaglino and Ivonne Pasquali Ronchetti 121
Part V The Eye
Richard Mayne 145
vi Contents
Chapter 2 Collagen
P^rtl The Collagen Family: Structure, Assembly, and
Organization in the Extracellular Matrix
Cay M. Kielty and Michael E. Grant 159
Part II Gene Structure
Mon Li Chu and Darwin J. Prockop 223
Chapter 3 Elastin and the Microfibrillar Apparatus
Joel Rosenbloom and William R. Abrams 249
Chapter 4 Glycosylated Matrix Proteins
Dick Heinegard, Anders Aspberg, Ahnders Franzen,
and Pilar Lorenzo 271
Chapter 5 Adhesive Glycoproteins
Klaus von der Mark and Lydia Sorokin 293
Chapter 6 Keratins
E. Birgitte Lane 329
Chapter 7 Extracellular Matrix Degradation
Gillian Murphy and John J. Reynolds 343
HERITABLE DISORDERS OF CONNECTIVE TISSUE
Chapter 8 Osteogenesis Imperfecta
Peter H. Byers and William G. Cole 385
Chapter 9 The Ehlers Danlos Syndrome
Beat Steinmann, Peter M. Royce, and Andrea
Superti Furga 431
Chapter 10 Cutis Laxa and Premature Aging Syndromes
Jeffrey M. Davidson and MariaGabriella Giro 525
Chapter 11 Pseudoxanthoma Elasticum
Kenneth H. Neldner and Berthold Struk 561
Chapter 12 The Marfan Syndrome and Other Microfibrillar
Disorders
Reed E. Pyeritz and Harry C. Dietz 585
Chapter 13 The Homocystinurias
Flemming Skovby and Jan P. Kraus °^7
Chapter 14 Menkes Disease and the Occipital Horn Syndrome
Nina Horn and Zeynep Turner 651
Contents vii
Chapter 15 Epidermolysis Bullosa
Leena Bruckner Tuderman 687
Chapter 16 Prolidase Deficiency
Peter M. Royce and Beat Steinmann 727
Chapter 17 ai Antitrypsin Deficiency
Diane Wilson Cox 745
Chapter 18 Heritable Forms of Rickets and Osteomalacia
Michael P. Whyte 765
Chapter 19 Osteopetrosis
Michael P. Whyte 789
Chapter 20 Alkaptonuria
Bert N. La Du 809
Chapter 21 Fibrodysplasia Ossificans Progressiva
Frederick S. Kaplan, Eileen M. Shore and J. Michael
Connor 827
Chapter 22 Disorders of Lysosomal Enzymes
Part I General Considerations
Ulrich N. Wiesmann 841
Part II Clinical Phenotypes
Jules G. Leroy 849
Chapter 23 Skeletal Dysplasias
Part I Chondrodysplasias: General Concepts and
Diagnostic and Management Considerations
William A. Horton and Jacqueline T. Hecht 901
Part II Chondrodysplasias: Disorders of Cartilage Matrix
Proteins
William A. Horton and Jacqueline T. Hecht 909
Part III Skeletal Dysplasias Related to Defects in Sulfate
Metabolism
Andrea Superti Furga 939
Part IV Craniosynostosis Syndromes and Skeletal Dys¬
plasias Caused by Mutations in Fibroblast Growth
Factor Receptor Genes
Clair A. Francomano and Maximilian Muenke 961
viii Contents
Part V Defects in Skeletal Morphogenesis
Stefan Mundlos and Bjorn R. Olsen 993
Chapter 24 Disorders of Keratinization
Meral J. Arin, Daniel Hohl, and Dennis R. Roop 1025
Chapter 25 Alport Syndrome
Karl Tryggvason and Paula Martin 1069
Chapter 26 Miscellaneous Disorders
Parti Corneal Dystrophies Due to Mutations in the
Kerato Epithelin Gene (P#g /i3)
Joel Rosenbloom 1103
Part II Progressive Pseudorheumatoid Dysplasia
Wafaa M. Suwairi and Matthew L. Warman 1107
Part III The Camptodactyly Arthropathy Coxa
Vara Pericarditis Syndrome
Wafaa M. Suwairi and Matthew L. Warman 1111
Part IV Bruck Syndrome
Beat Steinmann and Peter M. Royce 1115
Part V Osteoporosis Pseudoglioma Syndrome
Beat Steinmann and Peter M. Royce 1119
Part VI Myopathies Due to Defects in Collagen VI
Beat Steinmann and Peter M. Royce 1123
Part VII Knobloch Syndrome
Beat Steinmann and Peter M. Royce 1129
Appendix I International Nomenclature of Constitutional
Disorders of Bone: Osteochondrodysplasias 1131
Appendix II Extracellular Collagen Metabolites in Body Fluids
Leila Risteli and Juha Risteli 1141
Index 1161
|
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| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 2. ed. |
| format | Book |
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| id | DE-604.BV014525599 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T19:03:14Z |
| institution | BVB |
| isbn | 0471251852 |
| language | English |
| lccn | 2001026920 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-009887389 |
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| physical | XVII, 1201 S. Ill., graph. Darst. |
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| spelling | Connective tissue and its heritable disorders molecular, genetic, and medical aspects ed. by Peter M. Royce ... 2. ed. New York Wiley-Liss 2002 XVII, 1201 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references and index Connective Tissue Diseases genetics Connective Tissue anatomy & histology Connective tissues Diseases Genetic aspects Connective tissues Diseases Molecular aspects Bindegewebskrankheit (DE-588)4031751-1 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Bindegewebskrankheit (DE-588)4031751-1 s Erbkrankheit (DE-588)4015106-2 s DE-604 Royce, Peter M. Sonstige oth http://www.loc.gov/catdir/toc/wiley021/2001026920.html Table of contents HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009887389&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Connective tissue and its heritable disorders molecular, genetic, and medical aspects Connective Tissue Diseases genetics Connective Tissue anatomy & histology Connective tissues Diseases Genetic aspects Connective tissues Diseases Molecular aspects Bindegewebskrankheit (DE-588)4031751-1 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4031751-1 (DE-588)4015106-2 |
| title | Connective tissue and its heritable disorders molecular, genetic, and medical aspects |
| title_auth | Connective tissue and its heritable disorders molecular, genetic, and medical aspects |
| title_exact_search | Connective tissue and its heritable disorders molecular, genetic, and medical aspects |
| title_full | Connective tissue and its heritable disorders molecular, genetic, and medical aspects ed. by Peter M. Royce ... |
| title_fullStr | Connective tissue and its heritable disorders molecular, genetic, and medical aspects ed. by Peter M. Royce ... |
| title_full_unstemmed | Connective tissue and its heritable disorders molecular, genetic, and medical aspects ed. by Peter M. Royce ... |
| title_short | Connective tissue and its heritable disorders |
| title_sort | connective tissue and its heritable disorders molecular genetic and medical aspects |
| title_sub | molecular, genetic, and medical aspects |
| topic | Connective Tissue Diseases genetics Connective Tissue anatomy & histology Connective tissues Diseases Genetic aspects Connective tissues Diseases Molecular aspects Bindegewebskrankheit (DE-588)4031751-1 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Connective Tissue Diseases genetics Connective Tissue anatomy & histology Connective tissues Diseases Genetic aspects Connective tissues Diseases Molecular aspects Bindegewebskrankheit Erbkrankheit |
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