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Medical genetics at a glance / Dorian J. Pritchard, Bruce R. Korf.

By: Contributor(s): Material type: TextTextSeries: At a glance series (Oxford, England)Publication details: Malden, Mass. ; Oxford : Blackwell Pub., 2008.Edition: 2nd edDescription: 167 p. : ill. (some col.) ; 28 cmISBN:
  • 9781405148467 (pbk. : alk. paper)
  • 1405148462 (pbk. : alk. paper)
Subject(s): DDC classification:
  • 616.042 22
LOC classification:
  • RB155 .P6965 2008
Contents:
pt. 1. Cellular, molecular and developmental biology. Introduction and basic biology -- The cell -- The chromosomes -- DNA structure -- DNA replication -- RNA structure -- Production of messenger RNA -- Protein synthesis -- The cell cycle -- Gametogenesis -- Embryology -- Body patterning -- Sexual differentiation -- pt. 2. Medical genetics. The place of genetics in medicine -- Mendel's laws -- Autosomal dominant inheritance, principles -- Autosomal dominant inheritance, clinical examples -- Autosomal recessive inheritance, principles -- Autosomal recessive inheritance, clinical examples -- Aspects of dominance -- Genomic imprinting and dynamic mutation -- X-linked inheritance -- Sex-related disorders other than X-linked -- Autosomal aneuploidies -- Sex chromosome aneuploidies -- Chromosome structural abnormalities -- Chromosome structural abnormalities, clinical examples -- Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation -- Congenital abnormalities arising at the fetal stage -- Principles of multifactorial disease -- Multifactorial disease in children -- The common disorders of adult life -- Twin studies -- Normal polymorphism -- Allele frequency -- Genetic linkage -- Gene mapping -- Mutagenesis and DNA repair -- Mutations -- The molecular biology of cancer -- Familial cancers -- Immunogenetics -- Genetic disorders of the immune system -- Biochemical genetics: part 1 -- Biochemical genetics: part 2 -- pt. 3. Clinical applications of genetics. Clinical applications of genetics: an overview -- Pedigree drawing -- Risk assessment -- Dysmorphology -- Chromosome analysis -- Biochemical diagnosis -- Reproductive genetic counselling -- Prenatal sampling -- Clinical application of linkage -- DNA sequencing -- Southern blotting -- The polymerase chain reaction -- DNA profiling -- Management of genetic disease -- Avoidance and prevention of disease -- Ethical and social issues in clinical genetics -- Self-assessment case studies: questions -- Self-assessment case studies: answers.
Summary: An introduction and revision text covering the core principles of cell biology and genetics, this title covers developmental biology, medical genetics and the clinical application of genetics.
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Holdings
Item type Current library Home library Shelving location Call number Copy number Status Date due Barcode Item holds
4 Week Loan Connolly Hospital Dublin Connolly Hospital Dublin Book 616.042 PRI (Browse shelf(Opens below)) 1 Available 127645
2 Week Loan Cork University Hospital Healthcare Library Cork University Hospital Healthcare Library Open Shelves W 616.04 PRIT (Browse shelf(Opens below)) 1 Available 0010352120
2 Week Loan Cork University Hospital Healthcare Library Cork University Hospital Healthcare Library Open Shelves W 616.04 PRIT (Browse shelf(Opens below)) 1 Available 0010352130
4 Week Loan Midland Regional Hospital Library Portlaoise Midland Regional Hospital Library Portlaoise Loan collection MRH Portlaoise 616.042 PRI (Browse shelf(Opens below)) Available PT11800
Total holds: 0

Includes bibliographical references (p. 158-159) and index.

pt. 1. Cellular, molecular and developmental biology. Introduction and basic biology -- The cell -- The chromosomes -- DNA structure -- DNA replication -- RNA structure -- Production of messenger RNA -- Protein synthesis -- The cell cycle -- Gametogenesis -- Embryology -- Body patterning -- Sexual differentiation -- pt. 2. Medical genetics. The place of genetics in medicine -- Mendel's laws -- Autosomal dominant inheritance, principles -- Autosomal dominant inheritance, clinical examples -- Autosomal recessive inheritance, principles -- Autosomal recessive inheritance, clinical examples -- Aspects of dominance -- Genomic imprinting and dynamic mutation -- X-linked inheritance -- Sex-related disorders other than X-linked -- Autosomal aneuploidies -- Sex chromosome aneuploidies -- Chromosome structural abnormalities -- Chromosome structural abnormalities, clinical examples -- Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation -- Congenital abnormalities arising at the fetal stage -- Principles of multifactorial disease -- Multifactorial disease in children -- The common disorders of adult life -- Twin studies -- Normal polymorphism -- Allele frequency -- Genetic linkage -- Gene mapping -- Mutagenesis and DNA repair -- Mutations -- The molecular biology of cancer -- Familial cancers -- Immunogenetics -- Genetic disorders of the immune system -- Biochemical genetics: part 1 -- Biochemical genetics: part 2 -- pt. 3. Clinical applications of genetics. Clinical applications of genetics: an overview -- Pedigree drawing -- Risk assessment -- Dysmorphology -- Chromosome analysis -- Biochemical diagnosis -- Reproductive genetic counselling -- Prenatal sampling -- Clinical application of linkage -- DNA sequencing -- Southern blotting -- The polymerase chain reaction -- DNA profiling -- Management of genetic disease -- Avoidance and prevention of disease -- Ethical and social issues in clinical genetics -- Self-assessment case studies: questions -- Self-assessment case studies: answers.

An introduction and revision text covering the core principles of cell biology and genetics, this title covers developmental biology, medical genetics and the clinical application of genetics.

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