Genetics of endocrine diseases and syndromes. (2019)

• Record Type: Book
• Further Information: Note: Peter Igaz, Attila Patócs, editors.
• Editors: Igaz, Peter; Patocs, Attila, 1973-
• Contents: Intro; Preface; Contents; Editors and Contributors; List of the Most Commonly Used Abbreviations; Part I: Basics of Genetics; Chapter 1: Basic Concepts of Genetics; 1.1 Introduction; 1.2 Basic Terms of Genetics; 1.3 Mutations; 1.4 Chromosomes; 1.5 Proto-oncogenes and Tumor Suppressors; 1.6 DNA Variations; 1.7 Epigenetics; References; Chapter 2: Brief Description of Inheritance Patterns; 2.1 Introduction; 2.2 Autosomal Dominant Inheritance; 2.3 Autosomal Recessive Inheritance; 2.4 X-Linked Dominant Inheritance; 2.5 X-Linked Recessive Inheritance; 2.6 Conclusions; References Chapter 3: Family Screening and Genetic CounselingReferences; Chapter 4: Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, e...; 4.1 Introduction; 4.2 DNA Isolation and Quality Control; 4.3 Polymerase Chain Reaction (PCR); 4.4 Multiplex Ligation-Dependent Probe Amplification (MLPA); 4.5 Sanger Sequencing; 4.6 Array-Based Methods; 4.7 Next-Generation Sequencing; 4.8 Conclusion; References; Part II: Endocrine Diseases Inherited as Monogenic Traits: Hormone Resistance Syndromes 6.3 The Glucocorticoid Signaling Pathway6.4 Primary Generalized Glucocorticoid Resistance (PGGR) or ``Chrousos Syndrome;́́ 6.5 Beyond NR3C1 Genetic Defects; 6.6 NR3C1 Polymorphisms; 6.7 Concluding Remarks; References; Part III: Endocrine Diseases Inherited as Monogenic Traits: Hereditary Diseases Predisposing to Endocrine Tumors; Chapter 7: Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors; 7.1 Introduction; 7.2 Multiple Endocrine Neoplasia Syndromes; 7.2.1 Multiple Endocrine Neoplasia Type 1
• Publisher Details: Cham : Springer
• Publication Date: 2019
• Extent: 1 online resource (xix, 473 pages), illustrations (some color)
• Subjects: 616.4/8; Endocrine glands -- Diseases -- Genetic aspects; Electronic books; Electronic books
• Languages: English
• ISBNs: 9783030259051; 3030259056
• Related ISBNs: 9783030259044; 3030259048
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed October 10, 2019).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.