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Connective tissue and it heritable disorders [[electronic resource] ] : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann
| Connective tissue and it heritable disorders [[electronic resource] ] : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | New York, : Wiley-Liss, c2002 |
| Descrizione fisica | 1 online resource (1221 p.) |
| Disciplina | 616.77042 |
| Altri autori (Persone) |
RoycePeter M
SteinmannBeat U |
| Soggetto topico |
Connective tissues - Diseases - Genetic aspects
Connective tissues - Diseases - Molecular aspects |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-280-36667-2
9786610366675 0-470-35006-7 0-471-46117-2 0-471-22192-9 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
CONNECTIVE TISSUE AND ITS HERITABLE DISORDERS SECOND EDITION; Contents; Preface; Acknowledgments; Preface to the First Edition; Contributors; Introduction Research on Collagen in the Author's Laboratory, 1952-1982; Introduction Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept; BIOLOGY OF EXTRACELLULAR MATRIX; Chapter 1 Morphology and Chemical Composition of Connective Tissue; Part I Structure of the Skin and Tendon; Part II Cartilage; Part III Bone; Part IV The Cardiovascular System; Part V The Eye
Chapter 2 CollagenPart I The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix; Part II Gene Structure; Chapter 3 Elastin and the Microfibrillar Apparatus; Chapter 4 Glycosylated Matrix Proteins; Chapter 5 Adhesive Glycoproteins; Chapter 6 Keratins; Chapter 7 Extracellular Matrix Degradation; HERITABLE DISORDERS OF CONNECTIVE TISSUE; Chapter 8 Osteogenesis Imperfecta; Chapter 9 The Ehlers-Danlos Syndrome; Chapter 10 Cutis Laxa and Premature Aging Syndromes; Chapter 11 Pseudoxanthoma Elasticum; Chapter 12 The Marfan Syndrome and Other Microfibrillar Disorders Chapter 13 The HomocystinuriasChapter 14 Menkes Disease and the Occipital Horn Syndrome; Chapter 15 Epidermolysis Bullosa; Chapter 16 Prolidase Deficiency; Chapter 17 a(1)-Antitrypsin Deficiency; Chapter 18 Heritable Forms of Rickets and Osteomalacia; Chapter 19 Osteopetrosis; Chapter 20 Alkaptonuria; Chapter 21 Fibrodysplasia Ossificans Progressiva; Chapter 22 Disorders of Lysosomal Enzymes; Part I General Considerations; Part II Clinical Phenotypes; Chapter 23 Skeletal Dysplasias; Part I Chondrodysplasias: General Concepts and Diagnostic and Management Considerations Part II Chondrodysplasias: Disorders of Cartilage Matrix ProteinsPart III Skeletal Dysplasias Related to Defects in Sulfate Metabolism; Part IV Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes; Part V Defects in Skeletal Morphogenesis; Chapter 24 Disorders of Keratinization; Chapter 25 Alport Syndrome; Chapter 26 Miscellaneous Disorders; Part I Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (big-h3); Part II Progressive Pseudorheumatoid Dysplasia Part III The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromePart IV Bruck Syndrome; Part V Osteoporosis-Pseudoglioma Syndrome; Part VI Myopathies Due to Defects in Collagen VI; Part VII Knobloch Syndrome; Appendix I International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias; Appendix II Extracellular Collagen Metabolites in Body Fluids; Index |
| Record Nr. | UNINA-9910143216403321 |
| New York, : Wiley-Liss, c2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Connective tissue and it heritable disorders [[electronic resource] ] : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann
| Connective tissue and it heritable disorders [[electronic resource] ] : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | New York, : Wiley-Liss, c2002 |
| Descrizione fisica | 1 online resource (1221 p.) |
| Disciplina | 616.77042 |
| Altri autori (Persone) |
RoycePeter M
SteinmannBeat U |
| Soggetto topico |
Connective tissues - Diseases - Genetic aspects
Connective tissues - Diseases - Molecular aspects |
| ISBN |
1-280-36667-2
9786610366675 0-470-35006-7 0-471-46117-2 0-471-22192-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
CONNECTIVE TISSUE AND ITS HERITABLE DISORDERS SECOND EDITION; Contents; Preface; Acknowledgments; Preface to the First Edition; Contributors; Introduction Research on Collagen in the Author's Laboratory, 1952-1982; Introduction Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept; BIOLOGY OF EXTRACELLULAR MATRIX; Chapter 1 Morphology and Chemical Composition of Connective Tissue; Part I Structure of the Skin and Tendon; Part II Cartilage; Part III Bone; Part IV The Cardiovascular System; Part V The Eye
Chapter 2 CollagenPart I The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix; Part II Gene Structure; Chapter 3 Elastin and the Microfibrillar Apparatus; Chapter 4 Glycosylated Matrix Proteins; Chapter 5 Adhesive Glycoproteins; Chapter 6 Keratins; Chapter 7 Extracellular Matrix Degradation; HERITABLE DISORDERS OF CONNECTIVE TISSUE; Chapter 8 Osteogenesis Imperfecta; Chapter 9 The Ehlers-Danlos Syndrome; Chapter 10 Cutis Laxa and Premature Aging Syndromes; Chapter 11 Pseudoxanthoma Elasticum; Chapter 12 The Marfan Syndrome and Other Microfibrillar Disorders Chapter 13 The HomocystinuriasChapter 14 Menkes Disease and the Occipital Horn Syndrome; Chapter 15 Epidermolysis Bullosa; Chapter 16 Prolidase Deficiency; Chapter 17 a(1)-Antitrypsin Deficiency; Chapter 18 Heritable Forms of Rickets and Osteomalacia; Chapter 19 Osteopetrosis; Chapter 20 Alkaptonuria; Chapter 21 Fibrodysplasia Ossificans Progressiva; Chapter 22 Disorders of Lysosomal Enzymes; Part I General Considerations; Part II Clinical Phenotypes; Chapter 23 Skeletal Dysplasias; Part I Chondrodysplasias: General Concepts and Diagnostic and Management Considerations Part II Chondrodysplasias: Disorders of Cartilage Matrix ProteinsPart III Skeletal Dysplasias Related to Defects in Sulfate Metabolism; Part IV Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes; Part V Defects in Skeletal Morphogenesis; Chapter 24 Disorders of Keratinization; Chapter 25 Alport Syndrome; Chapter 26 Miscellaneous Disorders; Part I Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (big-h3); Part II Progressive Pseudorheumatoid Dysplasia Part III The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromePart IV Bruck Syndrome; Part V Osteoporosis-Pseudoglioma Syndrome; Part VI Myopathies Due to Defects in Collagen VI; Part VII Knobloch Syndrome; Appendix I International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias; Appendix II Extracellular Collagen Metabolites in Body Fluids; Index |
| Record Nr. | UNINA-9910676612303321 |
| New York, : Wiley-Liss, c2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Connective tissue and it heritable disorders : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann
| Connective tissue and it heritable disorders : molecular, genetic, and medical aspects / / edited by Peter M. Royce and Beat Steinmann |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | New York, : Wiley-Liss, c2002 |
| Descrizione fisica | 1 online resource (1221 p.) |
| Disciplina | 616.77042 |
| Altri autori (Persone) |
RoycePeter M
SteinmannBeat U |
| Soggetto topico |
Connective tissues - Diseases - Genetic aspects
Connective tissues - Diseases - Molecular aspects |
| ISBN |
1-280-36667-2
9786610366675 0-470-35006-7 0-471-46117-2 0-471-22192-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
CONNECTIVE TISSUE AND ITS HERITABLE DISORDERS SECOND EDITION; Contents; Preface; Acknowledgments; Preface to the First Edition; Contributors; Introduction Research on Collagen in the Author's Laboratory, 1952-1982; Introduction Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept; BIOLOGY OF EXTRACELLULAR MATRIX; Chapter 1 Morphology and Chemical Composition of Connective Tissue; Part I Structure of the Skin and Tendon; Part II Cartilage; Part III Bone; Part IV The Cardiovascular System; Part V The Eye
Chapter 2 CollagenPart I The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix; Part II Gene Structure; Chapter 3 Elastin and the Microfibrillar Apparatus; Chapter 4 Glycosylated Matrix Proteins; Chapter 5 Adhesive Glycoproteins; Chapter 6 Keratins; Chapter 7 Extracellular Matrix Degradation; HERITABLE DISORDERS OF CONNECTIVE TISSUE; Chapter 8 Osteogenesis Imperfecta; Chapter 9 The Ehlers-Danlos Syndrome; Chapter 10 Cutis Laxa and Premature Aging Syndromes; Chapter 11 Pseudoxanthoma Elasticum; Chapter 12 The Marfan Syndrome and Other Microfibrillar Disorders Chapter 13 The HomocystinuriasChapter 14 Menkes Disease and the Occipital Horn Syndrome; Chapter 15 Epidermolysis Bullosa; Chapter 16 Prolidase Deficiency; Chapter 17 a(1)-Antitrypsin Deficiency; Chapter 18 Heritable Forms of Rickets and Osteomalacia; Chapter 19 Osteopetrosis; Chapter 20 Alkaptonuria; Chapter 21 Fibrodysplasia Ossificans Progressiva; Chapter 22 Disorders of Lysosomal Enzymes; Part I General Considerations; Part II Clinical Phenotypes; Chapter 23 Skeletal Dysplasias; Part I Chondrodysplasias: General Concepts and Diagnostic and Management Considerations Part II Chondrodysplasias: Disorders of Cartilage Matrix ProteinsPart III Skeletal Dysplasias Related to Defects in Sulfate Metabolism; Part IV Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes; Part V Defects in Skeletal Morphogenesis; Chapter 24 Disorders of Keratinization; Chapter 25 Alport Syndrome; Chapter 26 Miscellaneous Disorders; Part I Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (big-h3); Part II Progressive Pseudorheumatoid Dysplasia Part III The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromePart IV Bruck Syndrome; Part V Osteoporosis-Pseudoglioma Syndrome; Part VI Myopathies Due to Defects in Collagen VI; Part VII Knobloch Syndrome; Appendix I International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias; Appendix II Extracellular Collagen Metabolites in Body Fluids; Index |
| Record Nr. | UNINA-9910877798703321 |
| New York, : Wiley-Liss, c2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Progress in heritable soft connective tissue diseases / / Jaroslava Halper, editor
| Progress in heritable soft connective tissue diseases / / Jaroslava Halper, editor |
| Edizione | [Second edition.] |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (344 pages) |
| Disciplina | 616.77042 |
| Collana | Advances in experimental medicine and biology |
| Soggetto topico |
Connective tissues - Diseases - Genetic aspects
Molecular biology Human genetics Malalties del teixit connectiu |
| Soggetto genere / forma | Llibres electrònics |
| ISBN |
9783030806149
9783030806132 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910510551403321 |
| Cham, Switzerland : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
What are heritable disorders of connective tissue? [[electronic resource]]
| What are heritable disorders of connective tissue? [[electronic resource]] |
| Edizione | [Rev. Aug. 2007.] |
| Pubbl/distr/stampa | Bethesda, Md. : , : Dept. of Health and Human Services, Public Health Service, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, , 2007 |
| Descrizione fisica | 1 online resource (4 pages) |
| Soggetto topico | Connective tissues - Diseases - Genetic aspects |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910701486303321 |
| Bethesda, Md. : , : Dept. of Health and Human Services, Public Health Service, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, , 2007 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
