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  • 1
    Unknown
    New York : Oxford University Press
    Call number: H0400:28
    Keywords: Nervous system / Degeneration ; Nervous system / Degeneration ; Glutamine / Pathophysiology
    Notes: "Edited and updated compilation evolving from a Royal Society discussion meeting"--Cover p. 4.
    Pages: xvii, 312 p., [8] pages of col. plates : ill.
    ISBN: 0198506856
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    H0400:28 departmental collection or stack – please contact the library
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  • 2
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Biomedicine ; Human Genetics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Introduction -- Part I: Workshops on the History of Human Genetics -- The International Workshops on Genetics, Medicine and History: An Overview, 2003–2015 -- Part II: Beginning of Human Genetics -- Ancestral Concepts of Human Genetics and Molecular Medicine in Epicurean Philosophy -- Bateson and the Doctors: The Introduction of Mendelian Genetics to the British Medical Community 1900–1910 -- Part III: Genetics and Medicine -- Pedigrees and Prejudices: Pre-WWII Inherited Disease Classification at the US Eugenics Record Office -- Aldred Scott Warthin’s Family ‘G’: The American Plot Against Cancer and Heredity (1895–1940) -- Genetic Discrimination in the Doctoring of Cancer and Alcoholism -- The Genomization of Biology: Counterbalancing Radical Reductionism -- A Brief History of Uncertainty in Medical Genetics and Genomics -- Part IV: Countries -- “Nature’s Laboratories of Human Genetics”: Alpine Isolates, Hereditary Diseases and Medical Genetic Fieldwork, 1920–1970 -- Some Thoughts on Genetics and Politics. The Historical Misrepresentation of Scandinavian Eugenics and Sterilization -- Changing the Point of View: The History of Human Genetics as an Applied Science in the Federal Republic of Germany, 1945–1975 -- Herbert Bach (1926–1996): One of the Pioneers of Human Genetics in East Germany (GDR) -- Concise History of Prenatal Diagnostic Service in Russia -- Foundation of the International Federation of Human Genetic Societies: The Catalyst -- Part V: Gene Mapping -- The First Human Genetic Map 1936 -- Glasgow Contributions to Human Gene Mapping -- Human Gene Mapping: The Mass Media Iconography of the Human Genome Project in the Most Popular Greek Newspapers -- Part VI: Narrated History -- National Human Genome Research Institute History of Genomics Oral History Program: An Example of “Triangulation” -- Narrating Genes: How Patients with Chronic Inflammatory Bowel Diseases Interpret an Emerging Disease Aetiology and How We Can Make Sense Out of It by Developing a Historically and Sociologically Informed Framework -- Part VII: Genetic Counselling -- The Establishment of Genetic Counselling in Sweden: 1940–1980 -- Counselling, Risk and Prevention in Human Genetic Early Diagnosis in the Federal Republic of Germany -- “The Happiness of the Individual Is of Primary Importance”:Genetic Counselling in the GDR -- Remarks on the History of Genetic Counselling in Czechoslovakia, 1945–1990 -- The Establishment of Human Genetic Counselling in Austria in the 1970s in Between the Establishment of Human Genetics and the Eugenic Indication of Abortion -- Genetic Counselling in Belgium: The Centre for Human Genetics at the University of Leuven, 1960–1990 -- Genetic Counselling for Mediterranean Anaemia in Post-war Greece -- Karyotyping and the Emergence of Genetic Counselling in Mexico in the 1960s -- Newborn Screening on the Cusp of Genetic Screening: From Solidarity in Public Health to Personal Counselling -- Feminist Criticism of Genetic Counselling in the Second Half of the Twentieth Century -- The Evolving Concept of Non-directiveness in Genetic Counselling -- A Comparative and Social History of Genetic Counselling?
    Abstract: Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics
    Pages: VIII, 576 p. 36 illus., 29 illus. in color. : online resource.
    ISBN: 9783319517834
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4cM for CYP2A-DM. These two markers also show close linkage to each other (θ max = 0.05, Z max = 9.09). From examination of the genotypes of the recombinant individuals, CYP2A appears to map proximal to DM because in one recombinant individual CYP2A, APOC2 and CKMM had all recombined with DM. Evidence from another CYP2A-DM recombinant individual places CYP2A proximal to APOC2 and CKMM. Localisation of CYP2A on a panel of somatic cell hybrids also suggests that it is proximal to DM and APOC2/C1/E gene cluster.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 365-376 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The available information on the world distribution of Huntington's disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence (4–8 per 100,000), and that the disorder may also be frequent in India and parts of central Asia. HD is notably rare in Finland and in Japan, but data for Eastern Asia and Africa are inadequate. The disorder may have been underestimated in the American black population. Populations derived from recent European imigration show frequencies and origins of HD comparable to those expected from their own origins and expansion; there is no evidence to suggest that the HD gene has spread disproportionally and its selective effect may be close to neutral. Multiple separate introductions of the gene have been the rule in large populations. Several major foci of HD exist as the result of rapid population expansion. It is likely that a number of separate mutations for HD will be shown to be responsible for the disease, but that the high frequency of HD in European populations will prove to be the result of one or a very small number of mutations, probably of great antiquity.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The order of fourteen polymorphic markers localised to the long arm of human chromosome 19 has been established by multipoint mapping in a set of 40 CEPH (Centre d'Étude de Polymorphisme Humain, Paris) reference families. We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM. The resulting genetic map is supported by the localisation of the DNA markers in a panel of somatic cell hybrids. Ten of the twelve markers have been shown to be proximal to the DM gene and two, PRKCG and D19S22, distal but at distances of approximately 25 cM and 15 cM, respectively. The closest proximal markers are APOC2 (apolipoprotein C-II) and CKM (creatine kinase, muscle) approximately 3 cM and 2 cM from the DM gene respectively, in the order APOC2-CKM-DM. The distance between APOC2, CKM and DM (of the order of 2 million base pairs) and their known orientation should permit directional chromosome walking and jumping. The data presented here should enable us to determine whether or not new markers are distal to APOC2/CKM and thus potentially flank the DM gene.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the α-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61, Θ=0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Myotonic dystrophy (DM) is characterized by myotonia and progressive muscle weakness and wasting, with age at onset and degree of severity both being highly variable1. The disease can be divided into three clinical groups: minimally affected or late onset, classical adult onset, and ...
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 353 (1991), S. 9-9 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - Your leading article, "The case for the human genome" (Nature 352, 11; 1991), shows breathtaking ignorance of some historical and ethical aspects, which will be used as arguments against the genome project. The statement "Those who in the 1930s mounted the holocaust hardly bothered to excuse ...
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1573-3599
    Keywords: Presymptomatic testing ; counseling ; psychology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Psychology
    Notes: Abstract This paper reflects on experience gained from presymptomatic testing for Huntington disease. An approach is presented which considers the role of the clinician and aims of the interview. Irrespective of the disease being tested for, it is suggested that the psychological aim of presymptomatic testing is to foster emotional insight and understanding that will help clients in their decision-making process about testing and their subsequent adjustment to the result. Based on these aims the process of presymptomatic testing, counseling is considered in terms of clarification, consideration, education, and reflection, followed by decision making. Practical approaches are discussed and illustrated with clinical examples.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Behavior genetics 25 (1995), S. 197-198 
    ISSN: 1573-3297
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Psychology
    Type of Medium: Electronic Resource
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