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BOOK
Title Landmarks in medical genetics : Classic papers with commentaries / edited by Peter S. Harper.
Imprint Oxford ; New York : Oxford University Press, [2004]
©2004

LOCATION CALL # STATUS MESSAGE
 OTTERBEIN FOLIO  RB155 .L345 2004    AVAILABLE  
LOCATION CALL # STATUS MESSAGE
 OTTERBEIN FOLIO  RB155 .L345 2004    AVAILABLE  
Series Oxford monographs on medical genetics ; no. 51
Oxford monographs on medical genetics ; no. 51.
Subject Medical genetics.
Medical genetics -- History -- 20th century.
Genetics, Medical -- history.
History, 20th Century.
Alt Name Harper, Peter S.
Description xv, 307 pages : illustrations ; 28 cm.
Bibliography Note Includes bibliographical references and index.
ISBN 0195159306 (cloth : alk. paper)
OCLC # 52547695
Table of Contents
 Introduction 
1Huntington's Disease3
 On Chorea (1872) / George Huntington 
2Hemophilia6
 Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813) / John Hay 
3Duchenne Muscular Dystrophy10
 On Granular and Fatty Degeneration of the Voluntary Muscles (1852) / Edward Meryon 
4Hereditary Hemorrhagic Telangiectasia16
 On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the skin and Mucous Membranes (1901) / William Osler 
5Phenylketonuria22
 The Excretion of Phenylpyruvic Acid in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934) / Asbjorn Folling 
6Alkaptonuria and Autosomal Recessive Inheritance29
 The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902) / Archibald E. Garrod 
7Autosomal Dominant Inheritance in Brachydactyly35
 Inheritance of Digital Malformations in Man (1905) / William C. Farabee 
8Human Mendelian Inheritance41
 Evidence as to Mendelian Inheritance in Man (1909) / William Bateson 
9The Sex Chromosomes53
 The Sex Chromosomes (1911) / Edmund B. Wilson 
10Mendelian Proportions in a Mixed Population62
 Mendelian Proportions in a Mixed Population (1908) / G. H. Hardy 
11The Chromosome Number of Man67
 The Chromosome Number of Man (1956) / Joe Hin Tjio, Albert Levan 
12An Extra Chromosome in Down's Syndrome72
 Study of the Somatic Chromosomes of Nine Mongoloid Children (1959) / Jerome Lejeune, Marthe Gautier, Raymond Turpin 
13Sex Chromosome Anomalies, XXY74
 A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959) / Patricia A. Jacobs, J. A. Strong 
14Sex Chromosome Anomalies, Turner Syndrome74
 A Sex-chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome) (1959) / C. E. Ford, K. W. Jones, P. E. Polani, J. C. de Almeida, J. H. Briggs 
15Chromosomes and Spontaneous Abortion80
 Chromosome Studies in Spontaneous Abortions (1965) / David H. Carr 
16Fluorescence Patterns of Human Chromosomes92
 The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971) / Torbjorn Caspersson, Gosta Lomakka, Lore Zech 
17Chromosome Abnormality in Leukemia I103
 A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960) / P. C. Nowell, D. A. Hungerford 
18Chromosome Abnormality in Leukemia II103
 A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973) / Janet D. Rowley 
19The ABO Blood Group System111
 On Agglutination Phenomena of Normal Human Blood (1901) / Karl Landsteiner 
20Linkage Between Color-blindness and Hemophilia 
 The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937) / Julia Bell, J. B. S. Haldane115
21Duffy Blood Group Locus and Chromosome 1130
 Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968) / Roger P. Donahue, Wilma B. Bias, James H. Renwick, Victor A. McKusick 
22Human-Mouse Hybrid Cell Lines135
 Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967) / Mary C. Weiss, Howard Green 
23A Genetic Linkage Map in Man141
 Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms (1980) / David Botstein, Raymond L. White, Mark Skolnick, Ronald W. Davis 
24A DNA Marker Linked to Huntington's Disease152
 A Polymorphic DNA Marker Genetically Linked to Huntington's Disease (1983) / James F. Gusella, Nancy S. Wexler, P. Michael Conneally, Susan L. Naylor, Mary Anne Anderson, Rudolph E. Tanzi, Paul C. Watkins, Kathleen Ottina, Margaret R. Wallace, Alan Y. Sakaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, Joseph B. Martin 
25Cloning of DNA in an X Chromosome Deletion Patient160
 Specific Cloning of DNA Fragments Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985) / Louis M. Kunkel, Anthony P. Monaco, William Middlesworth, Hans D. Ochs, Samuel A. Latt 
26Inborn Errors of Metabolism169
 The Inborn Errors of Metabolism (1908) / Archibald E. Garrod 
27Phenylketonuria II 
 Phenylketonuria: A Problem in Eugenics (1946) / Lionel S. Penrose179
28Glycogen Storage Disease187
 Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952) / Gerty T. Cori, Carl F. Cori 
29Enzyme Polymorphisms191
 Enzyme Polymorphisms in Man (1966) / H. Harris 
30Sickle Cell Anemia199
 Sickle Cell Anemia, a Molecular Disease (1949) / Linus Pauling, Harvey A. Itano, S. J. Singer, Ibert C. Wells 
31Protection against Malaria in Sickle Cell Trait205
 Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954) / A. C. Allison 
32Gene Mutations in Human Hemoglobin212
 Gene Mutations in Human Haemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957) / V. M. Ingram 
33A Structure for DNA215
 Molecular Structure of Nucleic Acids. A Structure for Deoxyribose Nucleic Acid (1953) / J. D. Watson, F. H. C. Crick 
34Cytoplasmic Inheritance and Leber's Disease221
 A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936) / Y. Imai, D. Moriwaki 
35Gene Action in the X-chromosome225
 Gene Action in the X-chromosome of the Mouse (Mus musculus L.) (1961) / Mary F. Lyon 
36Anticipation in Myotonic Dystrophy I228
 The Problem of Anticipation in Pedigrees of Dystrophia Myotonica (1948) / L. S. Penrose 
37Anticipation in Myotonic Dystrophy II228
 Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989) / C. J. Howeler, H. F. M. Busch, J. P. M. Geraedts, M. F. Niermeijer, A. Staal 
38Maternally and Paternally Derived Chromosome Regions244
 Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985) / B. M. Cattanach, M. Kirk 
39Retinoblastoma248
 Mutation and Cancer: Statistical Study of Retinoblastoma (1971) / Alfred G. Knudson, Jr. 
40Phenylalanine Intake and Phenylketonuria257
 Influence of Phenylalanine Intake on Phenylketonuria (1953) / Horst Bickel, John Gerrard, Evelyn M. Hickmans 
41Pathogenesis of Erythroblastosis Fetalis260
 The Role of Iso-immunization in the Pathogenesis of Erythroblastosis Fetalis (1941) / Philip Levine, Lyman Burnham, E. M. Katzin, Peter Vogel 
42Prevention of Rh Hemolytic Disease268
 Experimental Studies on the Prevention of Rh Haemolytic Disease (1961) / R. Finn, C. A. Clarke, W. T. A. Donohoe, R. B. McConnell, P. M. Sheppard, D. Lehane, W. Kulke 
43Antenatal Diagnosis of Sickle Cell Anemia275
 Antenatal Diagnosis of Sickle-cell Anaemia by D.N.A. Analysis of Amniotic-fluid Cells (1978) / Yuet Wai Kan, Andree M. Dozy 
44Carrier Screening for Tay-Sachs Disease279
 Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders (1972) / Michael M. Kaback, Robert S. Zeiger 
45Prevention of Neural-tube Defects 
 Possible Prevention of Neural-tube Defects by Periconceptional Vitamin Supplementation (1980) / R. W. Smithells, S. Sheppard, C. J. Schorah, M. J. Seller, N. C. Nevin285
46Radiation and the Sex Ratio291
 Radiation and the Sex Ratio in Man. Sex Ratio among Children of Survivors of Atomic Bombings Suggests Induced Sex-linked Lethal Mutations (1958) / William J. Schull, James V. Neel 
47The Geneticists Manifesto298
 Men and Mice at Edinburgh (1939) Reports from the Genetics Congress 
 Index303


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