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• Title:New clinical genetics 3 / Andrew Read and Dian Donnai.
  
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• Variant Title:New clinical genetics three
  Genetics
  
• Author/Creator:Read, Andrew P., 1939- author.
  
• Other Contributors/Collections:Donnai, D. (Dian), 1945- author.
  
• Published/Created:Banbury, UK : Scion, 2015.
  

• Holdings

  Holdings Record Display

  • Location:WOODWARD LIBRARY stacksWhere is this?
    
  • Call Number: QZ50 .R282n 2015
    
  • Number of Items:1
    
  • Status:Available
    

   
• Library of Congress Subjects:Medical genetics.
  Medical genetics--Case studies.
  Human chromosome abnormalities--Diagnosis--Case studies.
  Genetic Diseases, Inborn--Case studies.
  
• Medical Subjects: Genetics, Medical--methods.
  
• Edition:Third edition.
  
• Description:xxiii, 448 pages : illustrations (chiefly colour) ; 27 cm
  
• Summary:"In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool; the checking of a patient's whole exome for the cause of their problem; noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation; a new integrated treatment of epigenetics; mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes; and dysmorphology in more detail. New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists."--Publisher's website.
  
• Notes:Previous edition: 2011.
  Includes bibliographical references and index.
  
• ISBN:9781907904677 paperback
  1907904670 paperback
  
• Contents:Machine generated contents note: 1.1. Case studies
  Case 1: Ashton family
  Case 2: Brown family
  Box 1.1: The pleiotropic effects of cystic fibrosis
  Case 3: Choudhary family
  Case 4: Davies family
  Case 5: Elliot family
  Case 6: Fletcher family
  1.2. Science toolkit
  Box 1.2: How to take a family history and draw a pedigree
  1.3. Investigations of patients
  Case 1: Ashton family
  Case 2: Brown family
  Case 3: Choudhary family
  Box 1.3: Relationships
  Case 4: Davies family
  Case 5: Elliot family
  Case 6: Fletcher family
  1.4. Going deeper
  art of pedigree interpretation
  Box 1.4: Summary of modes of inheritance of monogenic characters
  Penetrance and expressivity: pitfalls in inheritance and counseling
  Rarer modes of inheritance
  Disease box 1: Type 1 Neurofibromatosis
  Some further problems in pedigree interpretation
  Mosaicism
  1.5. References
  Useful websites
  1.6. Self-assessment questions
  2.1. Case studies
  Case 7: Green family
  Case 8: Howard family
  Case 9: Ingram family
  2.2. Science toolkit
  Why clinicians need to know about chromosomes
  How are chromosomes studied?
  Box 2.1: Material for chromosome analysis
  Box 2.2: Chromosomes and their abnormalities: nomenclature and glossary
  Chromosome abnormalities
  Box 2.3: Syndromes due to numerical chromosome abnormalities
  Box 2.4: Recurrent microdeletion and microduplication syndromes
  Why do we have chromosomes?
  Centromeres and telomeres
  behavior of chromosomes during cell division
  2.3. Investigations of patients
  Case 7: Green family
  Case 8: Howard family
  Case 9: Ingram family
  Case 5: Elliot family
  2.4. Going deeper
  What are chromosomes?
  Numerical and structural chromosome abnormalities
  Copy number variants
  Balanced and unbalanced abnormalities
  Constitutional and mosaic abnormalities
  Disease box 2: A microdeletion syndrome: Williams-Beuren syndrome
  2.5. References
  Useful websites
  2.6. Self-assessment questions
  3.1. Case studies
  Case 10: Johnson family
  3.2. Science toolkit
  Structure of nucleic acids
  Box 3.1: A note on units
  structure of genes: exons and introns
  Box 3.2: 5' and 3' ends
  Splicing of the primary transcript
  Translation and the genetic code
  Box 3.3: The reading frame
  Translation is not the end of the story
  Box 3.4: Biosynthesis of collagens
  3.3. Investigations of patients
  Case 10: Johnson family
  Case 1: Ashton family
  Case 2: Brown family
  Case 3: Choudhary family
  Case 4: Davies family
  Case 5: Elliot family
  Case 6: Fletcher family
  Case 7: Green family
  Case 8: Howard family
  Case 9: Ingram family
  3.4. Going deeper
  Some chemistry
  Box 3.5: Chemical formulae of A, G, C, T and U
  Box 3.6: Structure of proteins
  One gene often encodes more than one protein
  Switching genes on and off: transcription and its controls
  From gene to genome
  Box 3.7: How to use the ENSEMBL genome browser
  Looking at our noncoding DNA
  Disease box 3: From genes to diseases: the RASopathies
  3.5. References
  General background
  Useful websites
  3.6. Self-assessment questions
  4.1. Case studies
  Case 11: Kowalski family
  Case 12: Lipton family
  Case 13: Meinhardt family
  4.2. Science toolkit
  Nucleic acid hybridization
  Using hybridization as the basis for DNA testing
  Box 4.1: Principle of Southern blotting
  Box 4.2: Restriction endonucleases
  Box 4.3: Gel electrophoresis
  Amplifying a sequence of interest: the polymerase chain reaction
  Box 4.4: Understanding PCR
  4.3. Investigations of patients
  Cases studied using a hybridization procedure
  Case 7: Green family
  Case 5: Elliott family
  Case 13: Meinhardt family
  Case 11: Kowalski family
  Cases studied using PCR
  Case 9: Ingram family
  Case 4: Davies family
  Case 1: Ashton family
  Case 12: Lipton family
  4.4. Going deeper
  Quantitative PCR
  Chromosome abnormalities
  Chromosome painting
  Testing RNA
  Testing protein
  Disease box 4: Diseases caused by expanding nucleotide repeats
  4.5. References
  Useful websites
  4.6. Self-assessment questions
  5.1. Case studies
  Case 14: Nicolaides family
  5.2. Science toolkit
  Methods for detecting specific sequence changes
  Box 5.1: A brief guide to nomenclature of mutations
  Methods for scanning a gene for any sequence change
  DNA sequencing: the ultimate test
  5.3. Investigation of patients
  stories so far
  Case 14: Nicolaides family
  Case 2: Brown family
  Case 6: Fletcher family
  Case 4: Davies family
  Case 8: Howard family
  Case 11: Kowalski family
  5.4. Going deeper
  three questions
  Filtering the data
  Where's it all going?
  Disease box 5: Long QT syndrome
  5.5. References
  5.6. Self-assessment questions
  6.1. Case studies
  Case 15: O'Reilly family
  6.2. Science toolkit
  Box 6.1: Summary of types of mutation considered in this section
  Deletion or duplication of a whole gene
  Disruption of a gene
  Mutations that affect the transcription of an intact coding sequence
  Mutations that affect splicing of the primary transcript
  Mutations that cause errors in translation
  Mutations that cause amino acid substitutions
  6.3. Investigations of patients
  Case 1: Ashton family
  Case 2: Brown family
  Case 4: Davies family
  Case 6: Fletcher family
  Case 11: Kowalski family
  Case 14: Nicolaides family
  Case 15: O'Reilly family
  6.4. Going deeper
  Loss of function and gain of function changes
  Dominant or recessive?
  Understanding the phenotype
  Genotype-phenotype correlations
  Box 6.2: Genotype-phenotype correlation in mutations of the FGFR genes
  Dosage sensitivity and the pathology of chromosomal abnormalities
  How do mutations arise?
  Disease box 6: Molecular pathology of variants in the androgen receptor gene
  6.5. References
  Useful websites
  6.6. Self-assessment questions
  Box 6.3: Partial sequence of PAX3 gene for Self-assessment questions
  7.1. Case studies
  Case 16: Portillo family
  Box 7.1: Types and functions of lymphocytes
  Case 17: Qian family
  Case 18: Rogers family
  7.2. Science toolkit
  DNA methylation
  Studying DNA methylation
  Relevance to patients
  X-inactivation
  Imprinting: why you need a mother and a father
  7.3. Investigations of patients
  Case 4: Davies family
  Case 9: Ingram family
  Case 16: Portillo family
  Cases 17: Qian family and 18: Rogers family
  7.4. Going deeper
  Other imprinting-related disorders
  What is the purpose of imprinting?
  DNA methylation and CpG islands
  Chromatin flavors and epigenomics
  How far do epigenetic effects determine individual differences?
  Disease box 7: Chromatin diseases
  7.5. References
  Useful website
  7.6. Self-assessment questions
  8.1. Case studies
  Case 19: Stott family
  Case 20: Tierney family
  8.2. Science toolkit
  Inborn errors of metabolism
  Box 8.1: Some history
  Box 8.2: Deletions and gene conversions in 21-hydroxylase deficiency
  Pharmacogenetics
  Immunogenetics
  8.3. Investigations of patients
  Case 19: Stott family
  Case 20: Tierney family
  Case 16: Portillo family
  8.4. Going deeper
  Inborn errors of metabolism
  Box 8.3: Inability to make vitamin C: a universal inborn error in humans
  Box 8.4: Lactose intolerance: a common metabolic polymorphism
  Pharmacogenetics
  Immunogenetics
  Disease box 8: Disorders of the spliceosome
  8.5. References
  Useful websites
  8.6. Self-assessment questions
  9.1. Case studies
  Dyschromatosis symmetrica hereditaria
  9.2. Science toolkit
  Associating a phenotype with a DNA sequence variant
  Box 9.1: Genetic markers
  Demonstrating why a variant causes a phenotype
  9.3. Investigations of patients
  Dyschromatosis symmetrica hereditaria
  Box 9.2: Centimorgans and megabases
  Case 3: Choudhary family
  Case 11: Kowalski family
  9.4. Going deeper
  Strategies for gene discovery by exome sequencing
  Problems with the sequencing approach
  Functional studies: the gold standard for gene identification
  Disease box 9: Mosaicism in clinical genetics
  9.5. References
  General background
  Useful websites
  9.6. Self-assessment questions
  10.1. Case studies
  Case 21: Ulmer family
  10.2. Science toolkit
  Box 10.1: The Hardy-Weinberg distribution
  Using Hardy-Weinberg to calculate carrier risks
  Changing gene frequencies
  Factors determining gene frequencies
  Heterozygote advantage
  Heterozygote advantage or founder effect?
  10.3. Investigations of patients
  Case 21: Ulmer family
  Box 10.2: The risk a healthy sib is a carrier
  Case 3: Choudhary family
  Box 10.3: Calculating the effects of inbreeding
  10.4. Going deeper
  What is the chance the offspring of a consanguineous marriage
  will have a recessive disease?
  Can we abolish genetic disease?
  Box 10.4: Should treated people repay their debt to society by not having children?
  Disease box 10: Jewish diseases and Finnish diseases
  10.5. References
  10.6. Self-assessment questions
  11.1. Case studies
  Case 22: Vlasi family
  11.2. Science toolkit
  Screening versus diagnostic tests
  Box 11.1: Parameters of a screening test
  When might screening be done?
  Contents note continued: Who should be screened?
  How should screening be done?
  Antenatal screening for Down syndrome and other trisomies
  Box 11.2: What is the best prenatal diagnostic test for Down syndrome?
  11.3. Investigations of patients
  Case 8: Howard family
  Case 22: Vlasi family
  Case 4: Davies family
  Case 2: Brown family
  Case 21: Ulmer family
  11.4. Going deeper
  What conditions should we screen for?
  Box 11.3: The Population Attributable Risk
  Box 11.4: Criteria used by the UK National Screening Committee
  Incidental findings: a form of opportunistic screening
  Box 11.5: 'Lifestyle' genetic testing
  Disease box 11: Familial hypercholesterolemia
  11.5. References
  Useful websites
  11.6. Self-assessment questions
  12.1. Case studies
  Case 23: Wilson family
  Case 24: Xenakis family
  12.2. Science toolkit
  Natural selection and the evolution of cancer
  Overcoming the defenses
  Box 12.1: Genomic instability in cancer cells
  Box 12.2: Living for ever: the importance of telomeres
  Oncogenes
  Box 12.3: The Philadelphia chromosome and the chimeric BCR-ABL gene
  Tumor suppressor genes
  normal functions of tumor suppressor genes
  Box 12.4: The Gl-S checkpoint
  MicroRNAs in cancer
  Epigenetic changes in cancer
  multistage development of cancer
  12.3. Investigations of patients
  Case 20: Tierney family
  Case 23: Wilson family
  Case 24: Xenakis family
  12.4. Going deeper
  Getting the complete picture: whole genome studies
  Genomics-based classification of tumors
  top-down approach the hallmarks of cancer
  Disease box 12: von Hippel-Lindau disease
  12.5. References
  Useful websites
  12.6. Self-assessment questions
  13.1. Case studies
  Case 25: Yamomoto family
  Case 26: Zuabi family
  13.2. Science toolkit
  Two models of genetic determination
  Dichotomous versus quantitative characters
  Polygenic theory
  Box 13.1: Polygenic susceptibility to a disease
  Investigating the genetics of complex diseases
  Linkage studies to identify susceptibility factors
  Association studies to identify susceptibility
  Box 13.2: Linkage and association
  13.3. Investigations of patients
  Case 25: Yamomoto family
  Case 26: Zuabi family
  13.4. Going deeper
  Haplotype blocks and tag SNPs
  Making GWAS work
  Why have GWAS told us so little that is clinically useful?
  So should we be testing for susceptibility to common diseases?
  Disease box 13: Autism
  13.5. References
  Useful websites
  13.6. Self-assessment questions
  14.1. Case studies
  14.2. Science toolkit
  Box 14.1: Common reasons for referral to a genetic clinic
  importance of a diagnosis
  Risk assessment and genetic counseling
  Box 14.2: An introduction to Bayesian calculations in genetics
  Reproductive genetics
  Dysmorphology
  Box 14.2: Terminology used in dysmorphology
  Genetic testing
  Box 14.4: Predictive testing for Huntington disease
  Management and treatment of genetic disorders
  14.3. Investigations of patients
  Possibilities for prenatal diagnosis
  Current possibilities for treatment
  Possibilities for gene therapy
  Possibilities for cell therapy
  14.4. Going deeper
  Gene therapy
  Stem cell therapy
  Diagnosis and counseling
  Information resources and care pathways for patients with rare disorders
  Testing
  Treatment
  14.5. References
  Recommended textbooks
  14.6. Self-assessment questions
  Chapter 1
  Chapter 2
  Chapter 3
  Chapter 4
  Chapter 5
  Chapter 6
  Chapter 7
  Chapter 8
  Chapter 9
  Chapter 10
  Chapter 11
  Chapter 12
  Chapter 13
  Chapter 14.