Abu-Abed, S. et al. 2001. The retinoic acid-metabolising enzyme CYP26A1, is essential for normal hindbrain patterning, vertebral identity and development of posterior structures. Genes and Development 15: 226–40
Addison, J. 1721. The battel [sic] of the pygmies and cranes. London
Adelmann, H.B. 1936a. The problem of Cyclopia I. Quarterly Review of Biology II: 161–82
Adelmann, H.B. 1936b. The problem of Cyclopia II. Quarterly Review of Biology 11: 284–304
Afzelius, B. 1976. A human syndrome caused by immotile cilia. Science 193: 317–19
Alberch, P. 1986. Possible dogs. Natural History 95: 4–8
Alberts, B. et al. 1994. The molecular biology of the cell. Garland, N.Y.
Albin, R.L. 1988. The pleiotropic gene theory of senescence: supportive evidence from human genetic disease. Ethology and Sociobiology 9: 371–82
Aldrovandi, U. 1642. Monstrorum historia. Bononiae
Ames, B.N. et al. 1993. Oxidants, antioxidants, and the degenerative diseases of ageing. Proceedings of the National Academy of Sciences, USA 90:7915–22
Anon. 1829a. Bulletin des sciences médicales 18: 169–72
Anon. 1829b. La Clinique 1: 200
Anon. 1829c. La Clinique 1: 254–5
Appel, T. 1987. The Cuvier–Geoffroy debate: French biology in the decade before Darwin Oxford University Press, Oxford, UK
Aristotle. 1984. The complete works of Aristotle: the revised Oxford translation J. Barnes (ed.) Princeton University Press, Princeton, N.J.
Aterman, K. 1999. From Horus the child to Hephaestus who limps: a romp through history. American Journal of Medical Genetics 83: 53–63
Bachiller, D. et al. 2000. The organiser factors chordin and noggin are required for mouse forebrain development. Nature 403: 658–61
Bacon, F. 1620 (2000). The new organon. L. Jardine and M. Silverthorne (eds) Cambridge Unversity Press, Cambridge, UK
Baker, J.R. 1974. Race. Oxford University Press, N.Y.
Balemans, W. et al. 2001. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Human Molecular Genetics 10: 537–43
Baljet, B. 1990. The cyclopic monsters of the Vrolik collection. Actes du 5e colloque de conservateurs des musées d’histoire des sciences médicales 66–78.
Baljet, B. and M.L. Öjesjö. 1994. Teratology in art or the Dysmorphology–Hieronymus Bosch Connection. Actes du 7e colloque des conservateurs des musées d’histore des sciences médicales
Baljet, B. and R.–J. Oostra. 1998. Historical aspects of the study of malformations in the Netherlands. American journal of Medical Genetics 77: 91–9
Baljet, B. et al. 1991. Willem Vrolik on cyclopia. Documenta Opthalmologica 77: 355–68
Bamshad, M. et al. 1999. Reconstructing the history of human limb development: lessons from birth defects. Pediatric Research 45: 291–9
Barbin, H. 1980. Herculine Barbin: being the recently discovered memoirs of a nineteenth century French hermaphrodite (intro. M. Foucault, trans. R. McDougall). Pantheon, N.Y.
Barbujani, G. et al. 1997. An apportionment of human DNA diversity. Proceedings of the National Academy of Sciences USA 94 4516–19
Barinaga, M. 1993. New protein appears to be long-sought neural inducer. Science 262: 653–54
Barrett, D. and M. McCann. 1980. Two-toed man. Sunday Times Magazine 28–31
Barsh, G. 1999. Of ancient tales and hairless tails. Nature Genetics 22:315–16
Bartke, A. et al. 2001a. Longevity – extending the lifespan of long-lived mice. Nature 414: 412
Bartke, A. et al. 2001b. Prolonged longevity of hypopituitary dwarf mice. Experimental Gerontology 36: 21–8
Bates, A.W. 2001. The De monstrorum of Fortunio Liceti: a landmark of descriptive teratology. Journal of Medical Biography 9: 49–54
Bateson, W. 1894. Materials for the study of variation. Macmillan, London
Bazopoulou-Kyrkanidou, E. 1997. What makes Hephaestus lame? American Journal of Medical Genetics 72: 144–55
Beckman, K.B. and B.N. Ames. 1998. The free radical theory of ageing matures. Physiological Reviews 78: 547–81
Beddington, R.S.P. 1994. Induction of a second neural axis by the mouse node. Development 120: 613–20
Beddington, R.S.P. and E.J. Robertson. 1999. Axis development and early asymmetry in mammals. Cell 96: 195–209
Bell, A.G. 1918. The duration of life and conditions associated with longevity. Genealogical Record Office, Washington, DC
Bendyshe, T. 1864. On the anthropology of Linnaeus. Memoires of the Anthropological Society of London 1: 421–58
Besser, G.M. and M.O. Thorner. 1994. Clinical endocrinology (2nd ed.) Ch. 11. Mosby-Wolfe, London
Betts, D.H. et al. 2001. Reprogramming of telomerase activity and rebuilding of telomere length in cloned cattle. Proceedings of the National Academy of Sciences, USA 98: 1077–82
Bindman, D. 2002. Ape to Apollo: aesthetics and the idea of race in the eighteenth century. Reaktion, London
Birkett, J. 1858. Congential, supernumerary and imperfectly developed auricles on the sides of the neck. Transactions of the Pathological Society of London 9: 448–9
Bittles, A.H. 2001. Consaguinity and its relevance to clinical genetics Clinical Genetics 60: 89–90
Blair, H.C. 1998. How the osteoclast degrades bone. Bioessays 20: 837–46
Blanchard, R. 1907. Nouvelles observations sur les nègres pies. Geoffroy Satin-Hilaire à Lisbonne. Bulletin de la Société Française d’histoire de la médecine 6: 111–35
Blasco, M.A. et al. 1997. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91: 25–34
Boaistuau, P. 1560 (2000) Histoires prodigieuses, Facsimile of Wellcome MS 136.XS. Bamforth ed.) Franco Maria Ricci, Milan
Boardman, J. 1997a. Pan in text pp.923–41; plate pp.612–36 in Lexicon iconographicum mythologiae classicae: VIII: 1 (text); 2 (Plates)
Boardman, J. 1997b. The great god Pan. Thames and Hudson, London
Boas, F. 1912. Changes in bodily form of descendants of immigrants. American Anthropologist 14: 530–62
Bodnar, A.G. et al. 1998. Extension of life-span by introduction of telomerase into normal human cell. Science 279: 349–51
Bogin, B. 1999. Patterns of human growth, 2nd ed. Cambridge University Press, Cambridge. UK
Bonaventure, J. et al. 1996. Common mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism. American Journal of Medical Genetics 63: 148–54
Bondeson, J. 1997. A cabinet of medical curiosities. Tauris, London
Bondeson, J. 2000. The two-headed boy and other medical marvels. Cornell University Press, Ithaca. N.Y.
Bondeson, J. and A.E.W. Miles. 1996. The hairy family of Burma: a four generation pedigree of congenital hypertrichosis lanuginosa. Journal of the Royal Society of Medicine 89: 403–8
Bornstein, P.E. and R.R. Peterson. 1966. Numerical variation in the pre-sacral vertebral column in three population groups. American Journal of Physical Anthropology 25: 139–46
Boruwlaski, J. 1792. The Memoirs of the celebrated dwarf, Joseph Boruwlasty, A Polish gentleman containing a faithful and curious account of his birth, education, marriage, travels and voyages. (trans. S. Freeman) 2nd ed. J. Thompson. Birmingham
Boulet and Capecchi. 1996. Targeted disruption of Hoxc-4 causes esophageal defects and vertebral transformation. Developmental Biology 177: 232–49
Boyd, W.C. 1955. Genetics and the races of man. Little, Brown and Co., Boston
Brandt, A. 1897. Üeber die sogenannten Hundemenschen, beziehungsweise über Hypertrichosis universalis. Biologische Zentralblatt 17: 161–79
Broberg, G. 1983. Homo sapiens. Linnaeus’ classification of man. in T. Frangsmyr, (ed.) Linnaeus: the man and his work. University of California Press, Berkley
Brockes, J.P. 1998. Regeneration and cancer. Biochimica et biophysica acta. 1377 M1-M11
Brown-Bor
g, H.M. et al. 1996. Dwarf mice and ageing process. Nature 384: 33
Browne, T. 1904. The works of Thomas Browne. C. Sayle (ed.) Grant Richards, London
Brueckner, M. 2001. Cilia propel the embryo in the right direction. American Journal of Medical Genetics 101: 339–44
Brunet, L.J. et al. 1998. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280: 1455–7
Brunkow, M.E. et al. 2001. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. American Journal of Human Genetics 68: 577–89
Bruyn, G.W. and L.N. Went 1986. Huntington’s Chorea, in Vinken, G. W. et al. (eds.) Extrapyramidal disorders: handbook of clinical neurology 49: 267–73
Buffon, G.L. 1777. Histoire naturelle générale et particulière. Imprimerie Royale, Paris
Burn, J. and T. Strachan. 1995. Human embryo use in developmental research. Nature Genetics 11: 3–6
Callahan, C.A. and A.E. Oro. 2001. Monstrous attempts at adnexogenesis: regulating hair follicle progenitors through sonic hedgehog signalling. Current Opinion in Genetics and Development 11: 541–6
Cargill, M. et al. 1999. Characterisation of single-nucleotide polymorphisms in coding regions of human genes. Nature Genetics 22: 231–8
Carpenter, E.M. et al. 1993. Loss of Hox-Ai (Hox-1. 6) function results in the reorganisation of the murine hindbrain. Development 118: 1063–75
Casey, B. and B.P. Hackett. 2000. Left–right axis malformations in man and mouse. Current Opinon in Genetics and Development 10: 257–61
Cavalli-Sforza, L.L. 1986. The African pygmies. Academic Press, N.Y.
Cavelaars, A.E.J.M. et al. 2000. Persistent variations in average height between countries and between socio-economic groups: an overview of 10 European countries Annals of Human Biology 27: 407–21
Celli, J. et al. 1999. Heterozygous germline mutations in the P53 homolog P63 are the cause of EEC syndrome. Cell 99: 143–51
Chapman, T. and L. Partridge. 1996. Female fitness in Drosophila melanogaster: an interaction between the effect of nutrition and of encounter rates with males. Proceedings of the Royal Society, London Series B Biological Sciences 263: 755–9
Charlesworth, B. 1996. Evolution of senescence: Alzheimer’s disease and evolution. Current Biology 6: 20–2
Chen, L. et al. 2001. A Ser(365)->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Human Molecular Genetics 10: 457–65
Chen, Y. et al. 2000. Conservation of early odontogenetic signaling pathways in Aves. Proceedings of the National Academy, USA 97: 10044–9
Chiang, C. et al. 1996. Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 383: 407–12
Chiang, C. et al. 2001. Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function. Developmental Biology 236: 421–35
Chisaka, O. and M.R. Capecchi. 1991. Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-i. 5 (HoxA3). Nature 350: 473–9
Cibelli, J.B. et al. 2002. The health profile of cloned animals. Nature Biotechnology 20: 13–14
Clark, R.M. et al. 2001. Reciprocal mouse and human limb phenotypes caused by gain and loss-of-function mutations affecting Lmbri. Genetics 159: 715–26
Coates, M.I. and J.A. Clack. 1990. Polydactyly in the earliest tetrapod limbs. Nature 347: 66–9
Cockayne, E.A. 1933. Inherited abnormalities of the skin and its appendages. Oxford University Press, London
Cohen, M.M. 2002. Bone morphogenetic proteins with some comments on fibrodysplasia ossificans progressiva. American Journal of Medical Genetics 109: 87–92
Cohen, M.M. 1988. Further diagnostic thoughts about the Elephant Man. American Journal of Medical Genetics 29: 777–82
Cohen, M.M. 1989. A comprehensive and critical assessment of overgrowth and overgrowth syndromes. Advances in Human Genetics 18: 181–303
Cohen, M.M. 1993. Proteus syndrome: clinical evidence for somatic mosaicism and selective review. American Journal of Medical Genetics 47: 645–52
Cohen, M.M. 2001. Problems in the definition of holoprosencephaly. American Journal of Medical Genetics 103: 183–7
Cohen, M.M. and K. Shiota. 2002. Teratogenesis of holoprosencephaly. American Journal of Medical Genetics 109: 1–15
Cohn, M.J. and C. Tickle. 1999. Developmental basis for limblessness and axial patterning in snakes. Nature 399: 474–9
Cohn, M.J. and P.E. Bright. 2000. Development of vertebrate limbs: insight into pattern, evolution and dysmorphogenesis. in O’Higgins, P. and M.J. Cohn (eds) Development, growth and evolution: implications for the hominid skeleton. Academic Press, N.Y.
Collins-Schramm, H.E. 2002. Ethnic-difference markers for use in mapping by admixture linkage disequilibrium. American Journal of Human Genetics 70: 737–50
Colvin, J.S. et al. 1996. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genetics 12: 391–7
Comfort, A. 1964. Ageing: the biology of senesence. Holt, Rinehart and Winston. N.Y.
Conner, M. and M. Ferguson-Smith. 1993. Essentials of medical genetics. (5th ed.) Blackwell Science, Oxford
Conte, F. A. et al. 1994. A syndrome of female pseudohermaphroditism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450 arom). Journal of Clinical Endocrinology and Metabolism 78: 1287–92
Corcoran, J. 1998. What are the molecular mechanims of neural tube defects? Bioessays 20: 6–8
Corder, E.H. et al. 1993. Gene dose of apololipoprotein E Type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 261: 921–3
Cornaro, L. 1550 (1903). The art of living long: a new and improved English version of the treatise by the celebrated Venetian centenarian, Louis Cornaro with Essays by Joseph Addison, Lord Bacon and Sir William Temple. W.F. Butler, Milwaukee
Cotsarelis, G. and S.E. Millar. 2001. Towards a molecular understanding of hair loss and its treatment. Trends in Molecular Medicine 7: 293–301
Crackower, M.A. et al. 1998. Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse. Developmental Biology 201: 78–89
Crawfurd, J. 1827. Journal of an embassy from the Governor-General of India to the court of Ava in the year 1827. V.i.H. Colburn. London
Crosby, J.L. et al. 1992. Disorganisation is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects. Mechanisms of Development 37: 121–6
Crow, J.F. 2000. The origins, patterns and implications of human spontaneous mutation. Nature Reviews Genetics 1: 40–7
Danerow, H. 1830. Ueber Ritta-Christina und die Siamesen. Litterarishcen Annaleen der gesammten Heilfyunde 16: 454–82
Darwin, C. 1859 (1968). The origin of species by means of natural selection. Penguin, Harmondsworth, UK
Darwin, C. 1871 (1981). The descent of man, and selection in relation to sex. Princeton University Press, Princeton, N.J.
Darwin, C. 1882. The variation of animals and plants under domestication, 2nd ed. John Murray, London
Dasen, V. 1993. Dwarfs in ancient Egypt and Greece. Clarendon Press, London
Dasen, V. 1994. Pygmaioi. text pp.594–601; plates pp.466–86. Lexicon Iconographicum Mythologiae Classicae VIII: 1 (text); 2 (plates)
Dasen, V. 1997. Multiple births in Graeco–Roman antiquity. Oxford Journal of Archaeology 16: 49–61
Dasen, V. 2002. Les jumeaux siamois dans l’Antiquité classique: du mythe au phénoméne de foire. La Revue du Practicien 52: 9–12
Daston, L. and K. Park. 1998. Wonders and the order of nature 1150–1750. Zone, N.Y.
De Luca, F. and J. Baron. 1999. Control of bone growth by fibroblast growth factors. Trends in Endocrinology and Metabolism 10: 61–5
De Quatrefages, A. 1895. The pygmies (trans. F. Starr). Ma
cmillan, London
De Vijlder, J. et al. 1999. Defects in thyroid hormone supply. Ch. 16b. The Thyroid and Its Diseases. http://www.thyroidmanager.org
Del Campo, M. et al. 1999. Mondactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. American Journal of Human Genetics 65: 104–10
Delange, F. and B. Hetzel. 2000. The Iodine Deficiency Disorders. Ch. 20. The Thyroid and Its Diseases. http://www.thyroidmanager.org
DeRobertis, E. and Y. Sasai. 1996. A common plan for dorsoventral patterning in Bilateria. Nature 380: 37–40
Diamond, J.M. 1982. Big-bang reproduction and ageing in male marsupial mice. Nature 298: 115–16
Diamond, J.M. 1991. Why are pygmies so small? Nature. 354: 111–12
Didde, R. 2002. Wetenschap. Volkskrant 25 May 2002
Dikötter, F. 1992. The discourse of race in modern China. Hurst, London
Dikötter, F 1997. Hairy barbarians, furry primates, and wild men: medical science and cultural representations of hair in China. in Hiltebeitel, A. and B. D. Miller (eds) Hair: its power and meaning in Asian cultures. SUNY Press, Albany, N.Y.
Dikötter, F. 1998. Imperfect conceptions: medical knowledge, birth defects, and eugenics in China. Hurst, London
Dobson, J. 1958. Marie Sabina, the variegated damsel. Annals of the Royal College of Surgeons 22: 273–8
Dollé, P. et al. 1993. Disruption of the Hoxd-13 gene induces localised heterochrony leading to mice with neotenic limbs. Cell 75: 431–41
Donnai D and R.M. Winter 1989. Disorganisation: a model for ‘early amnion rupture’? Journal of Medical Genetics 26: 421–5
Dreger, A.D. 1998. Hermaphrodites and the medical invention of sex. Harvard University Press. Cambridge, Mass.
Dudley, A.T. et al. 2002. A re-examination of proximodistal patterning during vertebrate development. Nature 418: 539–44
Durham-Pierre, D. et al. 1994. African origin of an intragenic deletion of the human P gene in tyrosine positive oculocutaneous albinism. Nature Genetics 7: 176–9
Egenvall, A. et al. 2000. Age pattern of mortality in eight breeds of insured dogs in Sweden. Preventative Veterinary Medicine 46: 1–14
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