عنوان

Genetics of endocrine diseases and syndromes /

(Number (ISBN

3030259056

(Number (ISBN

9783030259051

Erroneous ISBN

3030259048

Erroneous ISBN

9783030259044

Title Proper

Genetics of endocrine diseases and syndromes /

General Material Designation

[Book]

First Statement of Responsibility

Peter Igaz, Attila Patócs, editors.

Place of Publication, Distribution, etc.

Cham :

Name of Publisher, Distributor, etc.

Springer,

Date of Publication, Distribution, etc.

2019.

Specific Material Designation and Extent of Item

1 online resource (xix, 473 pages) :

Other Physical Details

illustrations (some color)

Series Title

Experientia Supplementum,

Volume Designation

volume 111

ISSN of Series

1664-431X ;

Text of Note

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

Text of Note

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

Text of Note

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

0

8

8

Text of Note

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.

Source for Acquisition/Subscription Address

Springer Nature

Stock Number

com.springer.onix.9783030259051

Title

Genetics of endocrine diseases and syndromes.

International Standard Book Number

9783030259044

Endocrine glands-- Diseases-- Genetic aspects.

Endocrine glands-- Diseases-- Genetic aspects.

MBGR

MBGR

PSD

SCI049000

Number

Edition

Class number

Igaz, Peter

Patocs, Attila,1973-

Date of Transaction

20200823093455.0

Cataloguing Rules (Descriptive Conventions))

pn

Electronic name

[Book]

Y