Table of Contents

1: George Huntington On Chorea (1872): Huntington's disease
2: John Hay: Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813): Hemophilia
3: Edward Meryon: On Granular and Fatty Degeneration of the Voluntary Muscles (1852): Duchenne Muscular Dystrophy
4: William Osler: On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the Skin and Mucous Membranes (1901): Hereditary Hemorrhagic Telagiectasia
5: Asbjorn Folling: The Excretion of Phenylalanine in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934): Phenylketonuria I
PART II. Mendelian Inheritance in Man
6: Archibald E. Garrod: The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902): Alkatonuria and Autosomal Recessive Inheritance
7: William C. Farabee: Inheritance of Digital Malformations in Man (1905): Autosomal Dominant Inheritance in Brachydactyly
8: William Bateson: Evidence as to Mendelian Inheritance in Man (1909): Mendelian Inheritance in Man
9: Edmund B. Wilson: The Sex Chromosomes (1911): The Sex Chromosomes
10: G.H. Hardy: Mendelian Proportions in a Mixed Population (1908): Mendelian Proportions in a Mixed Population
Part III. Human Chromosomes and Their Disorders
11: Joe Hin Tjio and Albert Levan: The Chromosome Number of Man (1956): The Chromosome Number of Man
12: Jerome Lejune, Marthe Gautier, and Raymond Turpin: Study of the Somatic Chromosomes of Nine Mongoloid Children (1959): An Extra Chromosome in Down's Syndrome
13: Patricia A. Jacobs and J.A. Strong: A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959): Sex Chromosome Anomalies, XXY
14: C.E. Ford, K.W. Jones, P.E. Polani, J.C. de Almeida, and J.H. Briggs: A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome) (1959): Sex Chromosome Anomalies: Turner Syndrome
15: David H. Carr: Chromosome Studies in Spontaneous Abortions (1965): Chromosomes and Spontaneous Abortion
16: Torbjorn Caspersson, Gosta Lomakka, and Lore Zech: The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971): Fluorescence Patterns of Human Chromosomes
17: P.C. Nowell and D.A. Hungerford: A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960): Chromosome Abnormality in Leukemia I
18: Janet D. Rowley: A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973): Chromosome Abnormality in Leukemia II
PART IV. Human Gene Mapping
19: Karl Landsteiner: On Aggluination Phenomena of Normal Human Blood (1901): The ABO Blood Group System
20: Julia Bell and J.B.S. Haldane: The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937): Linkage Between Color-Blindness and Hemophilia
21: Roger P. Donahue, Wilma B. Bias, James H. Renwick, and Victor A. McKusick: Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968): Duffy Blood Group Locus and Chromosome I
22: Mary C. Weiss and Howard Green: Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967): Human-Mouse Hybrid Cell Lines
23: David Botstein, Raymond L. White, Mark Skolnick, and Ronald W. Davis: Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms (1980): A Genetic Linkage Map in Man
24: 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. Sankaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, and Joseph B. Martin: A Polymorphic DNA Marker Genetically Linked to Huntington's Disease (1983): A DNA Marker Linked to Huntington's Disease
25: Louis M. Kunkel, Anthony P. Monaco, William Middlesworth, Hans D. Ochs, and Samuel A. Latt: Specific Cloning of DNA Fragments Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985): Cloning of DNA in an X Chromosome Deletion Patient
PART V. From Biochemical to Molecular Genetics
26: Archibald E. Garrod: The Inborn Errors of Metabolism (1908): Inborn Errors of Metabolism
27: L.S. Penrose: Phenylketonuria: A Problem in Eugenics (1946): Phenylketonuria II
28: Gerty T. Cori and Carl F. Cori: Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952): Glycogen Storage Disease
29: H. Harris: Enzyme Polymorphisms in Man (1966): Enzyme Polymorphisms
30: Linus Pauling, Harvey A. Itano, S.J. Singer, and Ibert C. Wells: Sickle Cell Anemia, a Molecular Disease (1948): Sickle Cell Anemia
31: A.C. Allison: Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954): Protection against Malaria in Sickle Cell Trait
32: V.M. Ingram: Gene Mutations in Human Hemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957): Gene Mutations in Human Hemoglobin
33: J.D. Watson and F.H.C. Crick: Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid (1953): A Structure for DNA
PART VI. Variations on Mendelian Inheritance
34: Y. Imai and D. Moriwaki: A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936): Cytoplasmic Inheritance and Leber's Disease
35: Mary F. Lyon: Gene Action in the X-chromosome of the Mouse (Mus Musculus L.) (1961): Gene Action in the X-chromosome
36: L.S. Penrose: The Problem of Anticipation in Pedigrees of Dystrophia Myotonia (1948): Anticipation in Myotonic Dystrophy I
37: C.J. Howeler, H.F.M. Busch, J.P.M. Geraedis, M.F. Niermeijer, and A. Staal: Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989): Anticipation in Myotonic Dystrophy II
38: B.M. Cattanach and M. Kirk: Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985): Maternally and Paternally Derived Chromosome Regions
39: Alfred G. Knudson, Jr.: Mutation and Cancer: Statistical Study of Retinoblastoma (1971): Retinoblastoma
PART VII. Management and Therapy of Genetic Disease
40: Horst Bickel, John Gerrard, and Evelyn M. Hickmans: Influence of Phenylalanine Intake on Phenylketonuria (1953): Phenylalanine Intake and Phenylketonuria
41: Philip Levine, Lyman Burnham, E.M. Katzin, and Peter Vogel: The Role of Iso-Immunization in the Pathogenesis of Erythroblastosis Fetalis (1941): Pathogenesis of Erythroblastosis Fetalis
42: R. Finn, C.A. Clarke, W.T.A. Donohoe, R.B. McConnell, P.M. Sheppard, D. Lehane, and W. Kulke: Experimental Studies on the Prevention of Rh Haemolytic Disease (1961): Prevention of Rh Hemolytic Disease
43: Yuet Wai Kan and Andree M. Dozy: Antenatal Diagnosis of Sickle-cell Anaemia by DNA Analysis of Amniotic-fluid Cells (1978): Antenatal Diagnosis of Sickle Cell Anemia
44: Michael M. Kaback, and Robert S. Zeiger: Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Programme for the Prevention of Recessive Genetic Disorders (1972): Carrier Screening for Tay-Sachs Disease
45: R.W. Smithells, S. Sheppard, C.J. Schorah, M.J. Seller, N.C. Nevin, R. Harris, A.P. Read, D.W. Fielding: Possible Prevention of Neural-tube Defects by Periconceptional Vitamin Supplementation (1980): Prevention of Neural-tube Defects
PART VIII. Genetics, Society, and Medicine
46: William J. Schull and James V. Neel: Radiation and the Sex Ratio in Man. Sex Ratio among Children of Survivors of Atomic Bombings Suggests Induced Sex-linked Lethal Mutations (1958): Radiation and the Sex Ratio
47: Reports from the Genetics Congress: The Geneticists Manifesto. Men and Mice at Edinburgh (1939): The Geneticists' Manifesto

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A collection of key papers in the evolution of medical genetics.

About the Author

Peter S. Harper is Professor of Medical Genetics at the University of Wales College of Medicine, Cardiff, UK. Dr Harper's principal research over the past 30 years has been in the areas of Huntington's disease, myotonic dystrophy, and other neuromuscular diseases. He has applied the science of genetics to the delivery of effective and socially aware services for families with genetic disorders. Dr Harper is author of Practical Genetic Counselling, currently in its Fifth Edition, as well as co-author of Huntington's Disease (Third Edition, Oxford University Press, 2002). He is also a series co-editor for the Oxford Monographs on Medical Genetics.

Reviews

"Landmarks in Medical Genetics, edited by Peter S. Harper, is an excellent book that should be mandatory reading not only for all trainees in genetics but for all fellows embarking on a career in academic medicine. The articles collected in this text are a testament to thoughtful observation and carefull description. ...I believe that this book is itself a landmark, an excellent historical text that will hopefully spawn a series of similar
collections, each focusing on areas on which this one merely touches." --JAMA
"...this is a refreshing book with original classic papers reproduced in modern format each accompanied by an insightful commentary placing the paper in context...The clarity of the modern transcription of the texts gives an easy read and the book is neatly split into eight sections...Harper presents a vivid and gripping series of papers, which should be read by all clinicians and scientists in genetics to get an idea of how the specialty has evolved with time.
...Every genetics department should have a copy of this book and it should be compulsory reading for new trainees."--European Journal of Human Genetics