« Home

Home » Medicine » Young: Medical Genetics » Resources » Hyperlinked Bibliography » Bibliography By Chapter

Young: Medical Genetics

Bibliography By Chapter

Chapter 1 - Chapter 2 - Chapter 3 - Chapter 4 - Chapter 5 - Chapter 6 - Chapter 7 -
Chapter 8
- Chapter 9 - Chapter 10 - Chapter 11 - Chapter 12 - Chapter 13 - Chapter 14

Please note that some of the sites you will be directed to from this page require a username and password to access the article. You may need to contact your library to obtain login details.

Chapter 1 References

Watson JD, Crick FHC (1953) A structure for deo xyribose nucleic acid. Nature, 171, 737 738. . [PubMed 13054692] [DOI: 10.1038/171737a0]

Wilkins MHF, Stokes AR, Wilson HR (1953) Molecular structure of deoxypentose nucleic acids. Nature, 171, 738 740. [PubMed 13054693] [DOI: 10.1038/171738a0]

Franklin RE, Gosling RG (1953) Molecular configuration in sodium thymonucleate. Nature, 171, 740 742. [PubMed 13054694] [DOI: 10.1038/171740a0]

Maddox B (2002) Rosalind Franklin. The dark lady of DNA. HarperCollins Publishers, London. (LP)

International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature, 409, 860 921. [DOI: 10.1038/35057062]

Venter JC, Adams MD, Myers EW et al. (2001). The sequence of the human genome. Science, 291, 1304 1351. [PubMed 11181995] [DOI: 10.1126/science.1058040]

The US National Human Genome Research Institute: http:// www.nhgri.nih.gov/

The UK Human Genome Mapping Resource Centre: http:// www.hgmp.mrc.ac.uk/GenomeWeb/ (CC)

Epstein RJ (2002) Human molecular biology. Cambridge University Press, Cambridge.

Gardner A, Howell RT, Davies T (2000) Biomedical sciences explained. Human genetics. Arnold, London.

Lewin B (2000) Genes vii. Oxford University Press, New York.

Strachan T, Read AP (2004) Human molecular genetics 3. Garland Science, New York.

Chapter 2 References

Tjio JH, Levan A (1956) The chromosome number of man. Hereditas, 42, 1 6. (LP)

Knight SJL, Regan R, Nicod A et al. (1999) Subtle chromosome rearrangements in children with unexplained mental retardation. Lancet, 354, 1676 1681. [PubMed 10568569] [DOI: 10.1016/S0140-6736%2899%2903070-6]

Gardner RJM, Sutherland GR (2004) Chromosome abnormalities and genetic counselling, 3rd edn. Oxford University Press, New York.

Gersen SL, Keagle MB (ed.) (1999) The principles of clinical cytogenetics. Human Press, Totowa, NJ

Rooney DE (ed.) (2001) Human cytogenetic constitutional analysis, 3rd edn. Oxford University Press, Oxford.

Chapter 3 References

Lejeune C (2000) Life is a blessing. Ignatius Press, San Francisco.

Lejeune J, Gautier M, Turpin R (1959) É´ude des chromosomes somatique de neuf enfants mongoliens. Comp Rend Acad Sci, 248, 1721 1722. (LP)

Wyllie JP, Wright MJ, Burn J, Hunter S (1994) Natural history of trisomy 13. Archives of Disease in Childhood, 71, 343 345. [PubMed 7979530]

Root S, Carey JC (1994) Survival in trisomy 18. American Journal of Medical Genetics, 49, 170 174. (CC) [PubMed 8116664] [DOI: 10.1002/ajmg.1320490203]

Gorlin RJ, Cohen MM, Hennekam RCM (2001) Syndromes of the head and neck, 4th edn. Oxford University Press, Oxford.

Jones KL (1997) Smith s recognizable patterns of human malformation, 5th edn. WB Saunders, Philadelphia.

Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man, 2nd edn. Walter de Gruyter, Berlin.

Chapter 4 References

Mendel G (1901) Experiments in plant hybridisation. Journal of the Royal Horticultural Society, xxvi, 1 32. (LP)

Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. Journal of the American Medical Association, 191, 715 717. [PubMed 14245511]

Frey J (1995) What dwarfed Toulouse-Lautrec? Nature Genetics, 10, 128 130. (CC) [PubMed 7663505] [DOI: 10.1038/ng0695-128]

Man PYW, Turnbull DM, Chinnery PF (2002) Leber hereditary optic neuropathy. Journal of Medical Genetics, 39, 162 169. [PubMed 11897814] [DOI: 10.1136/jmg.39.3.162]

Engel E, Antonarakis SE (2002) Genomic imprinting and uniparental disomy in medicine. Wiley-Liss, New York.

Kingston H M (2001) An ABC of clinical genetics, 3rd edn. BMJ Publishing Publishing House, London.

Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore.

Vogel F, Motulsky AG (1996) Human genetics, 3rd edn. Springer-Verlag, Berlin.

Chapter 5 References

Royer-Pokora B, Kunkel LM, Monaco AP et al. (1986) Cloning the gene for an inherited human disorder chronic granulomatous disease on the basis of its chromosomal location. Nature, 322, 32 37. (LP) [PubMed 2425263]

O Shea JG (1987) Was Frédéric Chopin s illness actually cystic fibrosis? Medical Journal of Australia, 147, 586 589. (CC) [PubMed 3320707]

Emery AEHE, Muntoni F (2003) Duchenne muscular dystrophy, 3rd edn. Oxford University Press, Oxford.

Cox TM, Sinclair J (1997) Molecular biology in medicine. Blackwell Science, Oxford.

Shaw DJ (ed.) (1995) Molecular genetics of human inherited disease. Wiley, Chichester.

Strachan T, Read AP (2003) Human molecular genetics 3. Garland Science, New York.

Swallow DM, Edwards YH (ed.) (1997) Protein dysfunction in human genetic disease. BIOS Scientific Publishers, Oxford

Chapter 6 References

Details of the UK Biobank can be found on its website, www.ukbiobank.ac.uk

Bayley J (1998) Iris. A memory of Iris Murdoch. George Duckworth and Company London. (CC)

Smithells RW, Sheppard S, Schorah CJ et al. (1980) Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet, i, 339 340. [DOI: 10.1016/S0140-6736%2880%2990886-7]

MRC Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet, 338, 131 137. (LP) [DOI: 10.1016/0140-6736%2891%2990133-A]

Bishop T, Sham P (eds) (2000) Analysis of multifactorial disease. BIOS Scientific Publishers, Oxford.

Falconer DS, Mackay TFC (1996) Introduction to quantitative genetics. Longman, Harlow.

King RA, Rotter JI, Motulsky AG (ed.) (2002) The genetic basis of common diseases, 2nd edn. Oxford University Press, Oxford.

McGuffin P, Owen MJ, Gottesman II (ed.) (2002) Psychiatric genetics and genomics. Oxford University Press, Oxford.

Post SG, Whitehouse PJ (ed.) (1998) Genetic testing for Alzheimer disease: ethical and clinical issues. Johns Hopkins University Press, Baltimore.

Chapter 7 References

Wambaugh J (1984) The blooding. Bantam Press, London.

Clarke CA, Donohue WTA, McConnell RB et al. (1963) Further experimental studies on the prevention of Rh haemolytic disease. British Medical Journal, 1, 979 984. (LP) [PubMed 14021558]

Hartl DL, Clark AG (1997) Principles of population genetics, 3rd edn. Sinauer, Sunderland, MA

Khoury MJ, Beaty TH, Cohen BH (1993) Fundamentals of genetic epidemiology. Oxford University Press, New York.

Vogel F, Motulsky, AG (1997) Human genetics, problems and approaches, 3rd edn. Springer-Verlag, Berlin.

Chapter 8 References

Ingram VM (1957) Gene differences in human haemoglobin: the chemical difference between normal and sickle-cell haemoglobin. Nature, 180, 326 328. [PubMed 13464827] [DOI: 10.1038/180326a0]

Pauling L, Itano HA, Singer SJ, Wells IC (1949) Sickle-cell anemia, a molecular disease. Science, 110, 543 548. (LP) [PubMed 15395398] [DOI: 10.1126/science.110.2865.543]

Herrick JB (1910) Peculiar elongated and sickle-shaped red blood cells in a case of severe anaemia. Archives of Internal Medicine, 6, 517 521.

Watkins, Tionne T-Boz , (1999) Thoughts. HarperCollins, New York.

Old J (2002) Hemoglobinopathies and thalassemias. In: Rimoin DL, Comra JM, Pyeritz RE, Korf BR Principles and practice of medical genetics, 4th edn. Churchill Livingstone, Edinburgh, pp. 1861 1898.

Rodgers GP (1998) Sickle cell disease and thalassaemia. Bailliè²¥ s Clinical Haematology Bailliere s Clinical Haematology, 11(1). Bailliè²¥ Trindall, London.

Sergeant GR (1992) Sickle cell disease, 2nd edn. Oxford University Press, Oxford.

Weatherall DJ, Clegg JB (2001) The thalassaemia syndromes. Blackwell Science, Oxford.

Chapter 9 References

Sinclair AH, Berta P, Palmer MS et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature, 346, 240 244. (LP) [PubMed 1695712] [DOI: 10.1038/346240a0]

Buss PW, Hughes HE, Clarke A (1995) Twenty-four cases of the EEC syndrome: clinical presentation and management. Journal of Medical Genetics, 32, 716 723. [PubMed 8544192]

Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) (2004) Inborn errors of development. The molecular basis of clinical disorders of morphogenesis. Oxford University Press, New York.

Moore KL, Persaud TVN (2003) Before we are born. Essentials of embryology and birth defects, 6th edn. W. B. Saunders, Philadelphia.

Spranger J, Benirschke K, Hall JG et al. (1982) Errors of morphogenesis: concepts and terms. Recommendations of an international working group. Journal of Pediatrics, 100, 160 165. [PubMed 7057306] [DOI: 10.1016/S0022-3476%2882%2980261-8]

Strachan T, Lindsay S, Wilson DI (1997) Molecular genetics of early development. BIOS Scientific Publishers, Oxford.

Wolpert L (2002) Principles of development, 2nd edn. Oxford University Press, Oxford.

Chapter 10 References

Knudson AG (1971) Mutations and cancer: statistical study of retinoblastoma. Proceedings of the National Academy of Sciences of the USA, 68, 820 823. [PubMed 5279523] [DOI: 10.1073/pnas.68.4.820]

Cavenee WK, Dryja TP, Phillips RA (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature, 305, 779 784. (LP) [PubMed 6633649] [DOI: 10.1038/305779a0]

Sokoloff B (1938) Predisposition to cancer in the Bonaparte family. American Journal of Surgery, 40, 673 679. [DOI: 10.1016/S0002-9610%2838%2990653-1]

Westphal SP (2002) Your money or your life. New Scientist, 175, 29 33. (CC)

Cowell JK (ed.) (2001) Molecular genetics of cancer, 2nd edn. BIOS Scientific Publishers, Oxford.

Eeles RA, Ponder BAJ, Easton DF, Horwich A (ed.) (1996) Genetic predisposition to cancer. Chapman & Hall Medical, London.

Henderson BE, Ponder B, Ross RK (2003) Hormones, genes and cancer. Oxford University Press, Oxford.

Hodgson SV, Maher ER (1999) A practical guide to human cancer genetics, 2nd edn. Cambridge University Press, Cambridge.

Chapter 11 References

Bearn AG (1993) Archibald Garrod and the individuality of men. Clarendon Press, Oxford.

Garrod AE (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancet, ii, 1616 1620. [DOI: 10.1016/S0140-6736%2801%2941972-6]

Harris H (1963) Garrod s inborn errors of metabolism. Oxford University Press, London. (LP)

Macalpine I, Hunter R, Rimington C (1968) Porphyria in the royal houses of Stuart, Hanover and Prussia. British Medical Journal, i, 7 18.

Rohl JCG, Warren M, Hunt D (1998) Purple secret. Genes, madness and the Royal Houses of Europe. Bantam Press, London. (CC)

Benson PF, Fensom AH (1985) Genetic biochemical disorders. Oxford University Press, Oxford.

Holt IJ (ed.) (2003) Genetics of mitochondrial diseases. Oxford University Press, Oxford.

Nyhan WL, Sakati NO (1987) Diagnostic recognition of genetic disease. Lea & Febiger, Philadelphia.

Scriver CR, Beaudet AL, Sly WS, Valle D (ed.) (2001) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York.

Chapter 12 References

Carson PE, Larkin Flanagan C, Ickes CE, Alving AS (1956) Enzymatic deficiency in primaquine-sensitive erythrocytes. Science, 124, 484 485. (LP) [PubMed 13360274] [DOI: 10.1126/science.124.3220.484-a]

Wilmut I, Schnieke AE, McWhir J et al. (1997) Viable offspring derived from fetal and adult mammalian cells. Nature, 385, 810 813. (CC) [PubMed 9039911] [DOI: 10.1038/385810a0]

Brooks G (ed.) (2002) Gene therapy. The use of DNA as a drug. Pharmaceutical Press, London.

Kolata G (1998) Clone. The road to Dolly and the path ahead. William Morrow and Company, New York.

Treacy EP, Valle D, Scriver CR ((2001) Treatment of genetic disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York.

Weber WW (1997) Pharmacogenetics. Oxford University Press, Oxford.

Chapter 13 References

Bayes T. An essay towards solving a problem in the doctrine of chances. Originally published in the Philosophical Transactions of the Royal Society in 1763; republished in 1958 in In Biometrika, 45, 296 315. (LP)

Howell M, Ford P (1980) The true history of the Elephant Man. Allison & Busby, London.

Seward GR (1994) Did the Elephant Man have neurofibromatosis 1? In: Huson SM, Hughes RAC The neurofibromatoses. Chapman & Hall Medical, London.

Tibbels JAR, Cohen MM (1986) The proteus syndrome: the Elephant Man diagnosed. BMJ, 293, 683 685. (CC)

Gorlin RJ, Cohen MM, Hennekam RCM (2001) Syndromes of the head and neck, 4th edn. Oxford University Press, Oxford.

Jones KL (1997) Smith s recognizable patterns of human malformation, 5th edn. WB Saunders, Philadelphia.

King RA, Rotter JI, Motulsky AG (2002) The genetic basis of common diseases, 2nd edn. Oxford University Press, New York.

McKusick VA (1998) Mendelian inheritance in man, 12th edn. Johns Hopkins University Press, Baltimore.

Rimoin DL, Connor JM, Pyeritz RE, Korf BR (ed.) (2002) Emery and Rimoin s principles and practice of medical genetics, 4th edn. Churchill Livingstone, London.

Scriver CR, Beaudet AL, Sly WS, Valle D (2001) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York.

Spranger JW, Brill PW, Poznanski A (2002) Bone dysplasias. An atlas of genetic disorders of skeletal development, 2nd edn . Oxford University Press, Oxford.

Human Cytogenetic Database. Schinzel A. Oxford University Press, Oxford.

London Dysmorphology Database (2003) Winter RM, Baraitser M. London Medical Databases, London.

London Neurogenetics Database (2003) Winter RM, Baraitser M. London Medical Databases, London.

Pictures of Standard Syndromes and Undiagnosed Malformations (POSSUM) Bankier A. Murdoch Institute for Research into Birth Defects, Melbourne.

Radiological Electronic Atlas of Malformation Syndromes and Skeletal Dysplasias (REAMS) (1999) Hall C, Washbrook J. Oxford University Press, Oxford.

American Society of Human Genetics www.ashg.org

British Society of Human Genetics www.bshg.org.uk

Gene Clinics www.geneclinics.org

Gene Tests www.genetests.org

Genetic Alliance. Online Directory of Genetic Resources www.geneticalliance.org

Human Gene Mutation Database www.hgmd.org

Online Mendelian Inheritance in Man (OMIM) http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

US Department of Energy Genome Programs (including Human Genome Project) www.doegenomes.org

Bennett RL, Steinhaus KA, Uhrich SB, et al. (1995) Recommendations for standardized pedigree nomenclature. American Journal of Human Genetics, 56, 745 752. [PubMed 7887430]

Bridge PJ (1997) The calculation of genetic risks, 2nd edn. Johns Hopkins University Press, Baltimore.

Young ID (1999) Introduction to risk calculation in genetic counselling, 2nd edn. Oxford University Press, Oxford.

Den Dunnen JT, Antonarakis E (2001) Nomenclature for the description of human sequence variations. Human Genetics, 109, 121 124. [DOI: 10.1007/s004390100505]

Mitelman F (ed.) (1995) ISCN 1995. An international system for human cytogeneic nomenclature. Karger Basel. Investigation for mental retardation and/or dysmorphic features

Aase JM (1990) Diagnostic dysmorphology. Plenum Publishing House, New York.

Cohen MM (1997) The child with multiple birth defects, 2nd edn. Oxford University Press, New York.

Jones KL (1997) Smith s recognizable patterns of human malformation, 5th edn. WB Saunders, Philadelphia.

Stevenson RE, Schwartz CE, Schroer RJ (1999) X-linked mental retardation. Oxford University Press, New York.

Chapter 14 References

Board of Directors of the American Society of Human Genetics (1999) Eugenics and the misuse of genetic information to restrict reproductive freedom. American Journal of Human Genetics, 64, 335 338. (CC) [DOI: 10.1086/302264]

Brock DJH, Sutcliffe RG (1972) Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet, ii, 197 199. (LP) [DOI: 10.1016/S0140-6736%2872%2991634-0]

Reilly PR (2000) Abraham Lincoln s DNA and other adventures in genetics. Cold Spring Harbor Laboratory Press, New York. (cc)

Clarke A (ed.) (1998) Genetic testing of children. BIOS Scientific Publishers, Oxford.

Harper PS (1998) Practical genetic counselling, 5th edn. Butterworth‑Heinemann, Oxford.

Harper PS, Clarke AJ (1997) Genetics, society and clinical practice. BIOS Scientific Publishers, Oxford.

Simpson JL, Elias S (2003) Genetics in obstetrics and gynaecology, 3rd edn. WB Saunders, Philadelphia.