advances human genetics volume (18 Ergebnisse)

Zustand: Good. 468 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country.

Zustand: Good. Volume 1. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. In good all round condition. No dust jacket. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,750grams, ISBN:0306396017.

Zustand: Good. Volume 14. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. In good all round condition. No dust jacket. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,850grams, ISBN:0306417529.

Zustand: Good. Volume 19. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. In good all round condition. No dust jacket. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,700grams, ISBN:0306432986.

Paperback. Zustand: Very Good. 118p large format paperback journal, vivid pink cover with sunned spine, very good condition, a little wear to edges, pages clean and neat like new, free from notes and labels, personal inscription from one of the journal's editors Language: English.

Zustand: Good. Volume 7. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. In good all round condition. No dust jacket. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,650grams, ISBN:0306396076.

Zustand: Good. Volume 17, 209 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country.

Zustand: New. In.

Zustand: New. In.

Zustand: New. In.

Zustand: Good. 385 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country.

Zustand: Good. Volume 15, 299 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country.

Zustand: Good. Volume One, 339 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country. Photos available upon request.

Zustand: Good. Volume 18, 383 pp., hardcover, ex library, else text clean & binding tight. - If you are reading this, this item is actually (physically) in our stock and ready for shipment once ordered. We are not bookjackers. Buyer is responsible for any additional duties, taxes, or fees required by recipient's country. Photos available upon request.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - 1 Chorionic Villus Sampling.- Early Trophoblast Development.- Historical Perspectives.- Techniques of Chorionic Villus Sampling.- Overview.- Transcervical Catheter Aspiration.- Transcervical Endoscopy.- Transcervical Biopsy Forceps.- Transabdominal Sampling.- Sample Processing.- Chromosomal Analysis.- Direct Karyotype Analysis.- Karyotype Analysis of Cultured Villi.- Results of Karyotype Analysis.- Metabolic Analysis of Chorionic Villi.- Overview.- Metabolic Disorders Diagnosed.- Pitfalls of Metabolic Diagnosis.- DNA Analysis of Chorionic Villi.- Overview.- DNA Disorders Diagnosed.- Pitfalls in DNA Diagnosis of Chorionic Villi.- Contraindications to Chorionic Villus Sampling.- Safety of Chorionic Villus Sampling.- Future Applications.- References.- 2 The Molecular Genetics of Hemophilia A and B in Man: Factor VIII and Factor IX Deficiency.- Hemophilia A. Factor VIII Gene.- Cloning and Characterization of Factor VIII Gene and the Deduced Protein Sequence.- Mutations in the Factor VIII Gene in Hemophilia A.- DNA Polymorphisms in the Factor VIII Gene.- Hemophilia B. Factor IX Gene.- Cloning and Characterization of Factor IX Gene.- Mutations in the Factor IX Gene in Hemophilia B.- DNA Polymorphisms in the Factor IX Gene.- X-Chromosome Mapping of Factor VIII and IX Genes.- Lessons from the Study of the Molecular Genetics of Hemophilia.- References.- 3 Cloning of the Duchenne/Becker Muscular Dystrophy Locus.- Background Information: Clinical Aspects of DMD.- Background Information: Biochemical Aspects of DMD.- Chromosomal Map Position.- Strategies to Approach the Gene.- Detection of Deletions in DMD and BMD Patients.- Identification of the DMD Transcript.- The DMD Locus.- The DMD/BMD Protein.- Future Prospects.- References.- 4 Trisomy 21: Molecular and Cytogenetic Studies of Nondisjunction.- Scope of the Problem.- Problems to Be Addressed.- Correct and Complete Ascertainment of Parental Origin of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos .- Identification of Couples at High Risk for Trisomy 21 Offspring.- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21 .- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Molecular Cytogenetic Organization of Chromosome 21: Implications for Studies of Nondisjunction.- Organization of DNA Sequences on the Short Arms of the Acrocentric Chromosomes.- The Interspersed 724 Family on the Acrocentric Short Arms.- Isolation of a Large Number of Polymorphic Single-Copy DNA Probes That Span the Long Arm of Chromosome 21.- Lessons from a Pilot Study.- An Experimental Design to Answer the Basic Questions Related to Nondisjunction.- Complete Ascertainment of Parental Origin and Meiotic Stage of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos .- Identification of Couples at High Risk for Trisomy 21 Offspring.- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21 .- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Overview.- References.- 5 Molecular Genetics of Human Salivary Proteins and Their Polymorphisms.- Salivary Protein Polymorphisms.- Salivary Amylase (Amy).- B12-Binding Protein (Rs).- Salivary Acid Phosphatase (s-AcP).- Genetic Polymorphisms of Proline-Rich Proteins (PRPs).- Salivary Peroxidase (SAPX).- Parotid Basic Proteins (Pb).- Other Polymorphisms in Human Saliva.- Molecular Genetic Studies.- The Proline-Rich Protein (PRP) Gene Family.- Statherin.- Amylase Gene Family.- Cystatin Gene Family.- References.- Addendum.

Taschenbuch. Zustand: Neu. Neuware - 1 Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- Introduction: Adrenal Steroidogenesis.- The Physiology of 21-Hydroxylase Deficiency.- Genetics of the 21-Hydroxylase Locus.- Southern Blotting Studies in CAH.- Gene Defects Detectable by Southern Blotting.- Point Mutations in CAH.- Prenatal Diagnosis of CAH.- References.- 2 Genetic Aspects of Amyloidosis.- Amyloidosis: Historical Background.- Amyloidosis: Definition.- Chemical Classification of the Amyloid Syndromes.- Transthyretin-Associated Amyloidosis.- Familial Mediterranean Fever and Other Hereditary Amyloidoses of the Amyloid A (AA) Type.- ACYS (Cystatin C) Hereditary Cerebral Hemorrhage with Amyloidosis: (HCHWA)-Iceland.- Aß Amyloidosis: Dutch-Type HCHWA, Alzheimer's Disease, and Down Syndrome.- AGEL: Familial Amyloidosis of the Finnish Type.- AAPOAI: Familial Amyloid Polyneuropathy, Iowa-(Van Allen).- AC AL: Multiple Endocrine Neoplasia.- Miscellaneous Hereditary Amyloidoses.- The Treatment of Hereditary Forms of Amyloidosis.- Conclusions.- References.- 3 Huntington's Disease.- Clinical Characteristics of HD.- Neuropathology and Neurochemistry.- Epidemiology.- A Molecular Genetic Approach to Investigation of HD.- Success of the Linkage Strategy.- Defining the HD Candidate Region.- Isolation of DNA Probes from the Candidate Region.- Fine Structure Physical Mapping of the Candidate Region.- Genetic Mapping of the Candidate Region.- Positioning of the HD Gene by Apparent Crossover Events.- Linkage Disequilibrium.- What Is the HD Gene .- References.- 4 Biochemical and Molecular Genetics of Cystic Fibrosis.- Early Attempts to Identify Biochemical Markers for CF.- Epithelial Ion Transport.- CF Gene Mapping.- Identification of the CF Gene.- The CF Gene Product(CFTR).- Genotype and Phenotype.- Explanations for High CF Gene Frequency.- Genetic Diagnosis.- Concluding Remarks.- References.- 5 Molecular Genetics of von Recklinghausen Neurofibromatosis.- Clinical Features.- Genetics of NF1.- Biochemical and Neurobiological Aspects.- Molecular Genetics.- Future Directions.- References.- Addenda.

Taschenbuch. Zustand: Neu. Neuware - 1 The Molecular Basis of HLA-Disease Association.- Function and Nomenclature.- Genomic Organization.- Class II Sequence Polymorphism.- Structural Consideration.- HLA and Disease.- Hybrid Molecules and Transassociation.- Disease-Associated Class II Sequences.- Mechanisms of Class II-Mediated Disease Susceptibility.- References.- 2 Chromosome Instability Syndromes.- Clinical Descriptions.- Cytogenetic Findings.- Heterogeneity and Complementation.- Heterozygote Detection.- Prenatal Diagnosis.- Molecular Considerations.- Conclusion.- References.- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations.- The Biochemical Basis of Lacticacidemia.- Pyruvate Carboxylase Deficiency.- Respiratory Chain Defects.- The Genetics of Lacticacidemia.- References.- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes.- Infants of Diabetic Mothers.- Infant Giants.- Beckwith-Wiedemann Syndrome.- Hemihyperplasia (Hemihypertrophy).- Sotos Syndrome.- Nevo Syndrome.- Bannayan-Riley-Ruvalcaba Syndrome.- Weaver Syndrome.- Marshall-Smith Syndrome.- Elejalde Syndrome.- Simpson-Golabi-Behmel Syndrome.- Proteus Syndrome.- Miscellaneous Conditions with Overgrowth.- References.- 5 Genetics of Growth Hormone and Its Disorders.- Human Growth Hormone and Related Hormones.- Human Growth Hormone Gene Cluster.- Genetic Disorders of hGH and hCSH Synthesis or Action.- Recombinant hGH.- Future Studies on hGH and Related Genes.- References.- Addenda.

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.