Landmarks in medical genetics classic papers with commentaries
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| Format: | Buch |
| Sprache: | English |
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Oxford [u.a.]
Oxford Univ. Press
2004
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| Schriftenreihe: | Oxford monographs on medical genetics
51 |
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| 245 | 1 | 0 | |a Landmarks in medical genetics |b classic papers with commentaries |c Peter S. Harper |
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2004 | |
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Datensatz im Suchindex
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| adam_text | CONTENTS
Introduction xiii
PART I CLASSIC DESCRIPTIONS OF INHERITED DISEASE
1. Huntington s Disease 3
George Huntington: On Chorea (1872)
2. Hemophilia 6
John Hay: Account of a Remarkable Haemorrhagic Disposition,
Existing in Many Individuals of the Same Family (1813)
3. Duchenne Muscular Dystrophy 10
Edward Meryon: On Granular and Fatty Degeneration of the
Voluntary Muscles (1852)
4. Hereditary Hemorrhagic Telangiectasia 16
William Osier: On a Family Form of Recurring Epistaxis, Associated
with Multiple Telangiectases of the S in and Mucous Membranes (1901)
5. Phenylketonuria 22
Asbjorn F0lling: The Excretion of Phenylpyruvic Acid in the Urine,
an Anomaly of Metabolism in Connection with Imbecility (1934)
PART II MENDELIAN INHERITANCE IN MAN
6. Alkaptonuria and Autosomal Recessive Inheritance 29
Archibald E. Garrod: The Incidence of Alkaptonuria:
A Study in Chemical Individuality (1902)
7. Autosomal Dominant Inheritance in Brachydactyly 35
William C. Farabee: Inheritance of Digital Malformations in Man (1905)
8. Human Mendelian Inheritance 41
William Bateson: Evidence as to Mendelian Inheritance in Man (1909)
9. The Sex Chromosomes 53
Edmund B. Wilson: The Sex Chromosomes (1911)
10. Mendelian Proportions in a Mixed Population 62
G. H. Hardy: Mendelian Proportions in a Mixed Population (1908)
PART III HUMAN CHROMOSOMES AND THEIR DISORDERS
11. The Chromosome Number of Man 67
Joe Hin Tjio and Albert Levan: The Chromosome Number of Man (1956)
x CONTENTS
12. An Extra Chromosome in Down s Syndrome 72
Jerome Lejeune, Marthe Gautier, and Raymond Turpin:
Study of the Somatic Chromosomes of Nine Mongoloid Children (1959)
13. Sex Chromosome Anomalies, XXY 74
Patricia A. Jacobs and J. A. Strong: A Case of Human Intersexuality
Having a Possible XXY Sex determining Mechanism (1959)
14. Sex Chromosome Anomalies, Turner Syndrome 74
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)
15. Chromosomes and Spontaneous Abortion 80
David H. Carr: Chromosome Studies in Spontaneous Abortions (1965)
16. Fluorescence Patterns of Human Chromosomes 92
Torbjorn Caspersson, Gosta Lomakka, and Lore Zech: The 24 Fluorescence
Patterns of the Human Metaphase Chromosomes—Distinguishing Characters
and Variability (1971)
17. Chromosome Abnormality in Leukemia I 103
P. C. Nowell and D. A. Hungerford:/! Minute Chromosome in Human Chronic
Granulocytic Leukemia (1960)
18. Chromosome Abnormality in Leukemia II 103
Janet D. Rowley:^ New Consistent Chromosomal Abnormality in Chronic
Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa
Staining (1973)
PART IV HUMAN GENE MAPPING
19. The ABO Blood Group System 111
Karl Landsteiner: On Agglutination Phenomena of Normal Human Blood (1901)
20. Linkage Between Color blindness and Hemophilia 115
Julia Bell and J.B.S. Haldane: The Linkage between the Genes for Colour¬
blindness and Haemophilia in Man (1937)
21. Duffy Blood Group Locus and Chromosome 1 130
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)
22. Human—Mouse Hybrid Cell Lines 135
Mary C. Weiss and Howard Green: Human—Mouse Hybrid Cell Lines
Containing Partial Complements of Human Chromosomes and Functioning
Human Genes (1967)
23. A Genetic Linkage Map in Man 141
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)
24. A DNA Marker Linked to Huntington s Disease 152
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, and Joseph B. Martin: A Polymorphic DNA Marker Genetically
Linked to Huntington s Disease (1983)
Contents xi
25. Cloning of DNA in an X Chromosome Deletion Patient 160
Louis M. Kunkel, Anthony P. Monaco, William Middlesworth,
Hans D. Ochs, and Samuel A. Latt: Specific Cloning ofDNA Fragments
Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985)
PART V FROM BIOCHEMICAL TO MOLECULAR GENETICS
26. Inborn Errors of Metabolism 169
Archibald E. Garrod: The Inborn Errors of Metabolism (1908)
27. Phenylketonuria II 179
Lionel S. Penrose: Phenylketonuria: A Problem in Eugenics (1946)
28. Glycogen Storage Disease 187
Gerty T. Cori and Carl F. Cori: Glucose 6 phosphatase of the Liver in
Glycogen Storage Disease (1952)
29. Enzyme Polymorphisms 191
H. Harris: Enzyme Polymorphisms in Man (1966)
30. Sickle Cell Anemia 199
Linus Pauling, Harvey A. Itano, S. J. Singer, and Ibert C. Wells:
Sicffle Cell Anemia, a Molecular Disease (1949)
31. Protection against Malaria in Sickle Cell Trait 205
A. C. Allison: Protection Afforded by Sickle cell Trait against Subtertian
Malarial Infection (1954)
32. Gene Mutations in Human Hemoglobin 212
V. M. Ingram: Gene Mutations in Human Haemoglobin: The Chemical
Difference between Normal and Sickle Cell Haemoglobin (1957)
33. A Structure for DNA 215
J. D. Watson and F.H.C. Crick: Molecular Structure of Nucleic Acids.
A Structure for Deoxyribose Nucleic Acid (1953)
PART VI VARIATIONS ON MENDELIAN INHERITANCE
34. Cytoplasmic Inheritance and Leber s Disease 221
Y. Imai and D. Moriwaki: A Probable Case of Cytoplasmic Inheritance in Man:
A Critique of Leber s Disease (1936)
35. Gene Action in the X chromosome 225
Mary F. Lyon: Gene Action in the X chromosome of the Mouse
(Mus musculus L.) (1961)
36. Anticipation in Myotonic Dystrophy I 228
L. S. Penrose: The Problem of Anticipation in Pedigrees of Dystrophia
Myotonica (1948)
37. Anticipation in Myotonic Dystrophy II 228
C. J. Howeler, H.F.M. Busch, J.P.M. Geraedts, M. F. Niermeijer,
and A. Staal: Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989)
38. Maternally and Paternally Derived Chromosome Regions 244
B. M. Cattanach and M. Kirk: Differential Activity of Maternally and
Paternally Derived Chromosome Regions in Mice (1985)
39. Retinoblastoma 248
Alfred G. Knudson, Jr.: Mutation and Cancer: Statistical Study of
Retinoblastoma (1971)
i CONTENTS
PART VII MANAGEMENT AND THERAPY OF GENETIC DISEASE
40. Phenylalanine Intake and Phenylketonuria 257
Horst Bickel, John Gerrard, and Evelyn M. Hickmans: Influence of
Phenylalanine Intake on Phenylketonuria (1953)
41. Pathogenesis of Erythroblastosis Fetalis 260
Philip Levine, Lyman Burnham, E. M. Katzin, and Peter Vogel:
The Role ofIso immunization in the Pathogenesis of Erythroblastosis
Fetalis (1941)
42. Prevention of Rh Hemolytic Disease 268
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)
43. Antenatal Diagnosis of Sickle Cell Anemia 275
Yuet Wai Kan and Andree M. Dozy: Antenatal Diagnosis of Sickle cell
Anaemia by D.N.A. Analysis of Amniotic fluid Cells (1978)
44. Carrier Screening for Tay Sachs Disease 279
Michael M. Kaback, and Robert S. Zeiger: Heterozygote Detection in
Tay Sachs Disease: A Prototype Community Screening Program for the
Prevention of Recessive Genetic Disorders (1972)
45. Prevention of Neural tube Defects 285
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)
PART VIII GENETICS, SOCIETY, AND MEDICINE
46. Radiation and the Sex Ratio 291
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)
47. The Geneticists Manifesto 298
Reports from the Genetics Congress: Men and Mice at Edinburgh (1939)
Index 303
|
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| discipline | Biologie Medizin |
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| indexdate | 2024-12-23T16:19:52Z |
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| language | English |
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| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spellingShingle | Harper, Peter S. Landmarks in medical genetics classic papers with commentaries Oxford monographs on medical genetics Génétique médicale Génétique médicale - Histoire - 20e siècle Geschichte Genetics, Medical history Collected Works History, 20th Century Collected Works Medical genetics Medical genetics History 20th century Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4072653-8 (DE-588)4151278-9 |
| title | Landmarks in medical genetics classic papers with commentaries |
| title_auth | Landmarks in medical genetics classic papers with commentaries |
| title_exact_search | Landmarks in medical genetics classic papers with commentaries |
| title_full | Landmarks in medical genetics classic papers with commentaries Peter S. Harper |
| title_fullStr | Landmarks in medical genetics classic papers with commentaries Peter S. Harper |
| title_full_unstemmed | Landmarks in medical genetics classic papers with commentaries Peter S. Harper |
| title_short | Landmarks in medical genetics |
| title_sort | landmarks in medical genetics classic papers with commentaries |
| title_sub | classic papers with commentaries |
| topic | Génétique médicale Génétique médicale - Histoire - 20e siècle Geschichte Genetics, Medical history Collected Works History, 20th Century Collected Works Medical genetics Medical genetics History 20th century Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Génétique médicale Génétique médicale - Histoire - 20e siècle Geschichte Genetics, Medical history Collected Works History, 20th Century Collected Works Medical genetics Medical genetics History 20th century Humangenetik Einführung |
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