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|a Genetics of endocrine diseases and syndromes /
|c Peter Igaz, Attila Patócs, editors.
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| 264 |
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1 |
|a Cham :
|b Springer,
|c 2019.
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| 300 |
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|a 1 online resource (xix, 473 pages) :
|b illustrations (some color).
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| 490 |
1 |
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|a Experientia Supplementum,
|x 1664-431X ;
|v volume 111.
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|a Online resource; title from PDF title page (SpringerLink, viewed October 10, 2019).
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|a 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.
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|a 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.
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|a 6.3 The Glucocorticoid Signaling Pathway6.4 Primary Generalized Glucocorticoid Resistance (PGGR) or C̀̀hrousos 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.
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|a This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
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| 650 |
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|a Endocrine glands
|x Diseases
|x Genetic aspects.
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| 650 |
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6 |
|a Glandes endocrines
|x Maladies
|x Aspect génétique.
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| 650 |
|
7 |
|a Endocrine glands
|x Diseases
|x Genetic aspects.
|2 fast.
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| 655 |
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4 |
|a Index not Present.
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| 700 |
1 |
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|a Igaz, Peter,
|e editor.
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| 700 |
1 |
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|a Patocs, Attila,
|d 1973-
|1 https://id.oclc.org/worldcat/entity/E39PBJdCqWKwQMwgGpv8G648YP,
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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0 |
8 |
|i Print version:
|t Genetics of endocrine diseases and syndromes.
|d Cham : Springer, 2019
|z 3030259048
|z 9783030259044
|w (OCoLC)1105352742.
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