Mutants (49 page)

Hinchliffe, J.R. and D.R. Johnson. 1980.
The development of the vertebrate limb.
Claredon Press, Oxford

Holekamp, K.E. et al. 1996. Rank and reproduction in female spotted
hyenas. Journal of Reproduction and Fertility
108 229–37

Holliday, R. 1989. Food, reproduction and longevity: is the extended lifespan of calorie-restricted animals an evolutionary adaptation?
Bioessays
10: 125–7

Holly, J.M.P. et al. 1999. Growth hormone, IGF-1 and cancer. Less intervention to avoid cancer? More intervention to prevent cancer?
Journal of Endocrinology
162: 321–30

Horan, G.S. et al. 1994. Homeotic transformation of cervical vertebrae in Hoxa-4 mutant mice.
Proceedings of the National Academy of Sciences, USA.
91: 12644–8

Horan, G.S. et al. 1995a. Compound mutants for the paralogous Hoxa-4, Hoxb-4, and Hoxc-4 genes show more complete homeotic transformations and a dose dependent increase in the number of vertebrae transformed.
Genes and Development
9: 1667–77

Horan, G.S. et al. 1995b. Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton – evidence for unique and redundant function.
Developmental Biology
169: 359–72

Houssay, F. 1937.
De la nature, des causes, des differences des monstres.
Editions Hippocrates, Paris

Hu, D. and J.A. Helms. 1999. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis.
Development
126: 4873–84

Huelsken, J. et al. 2001. Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin.
Cell
105: 533–45

Hummel, K.P. 1958. The inheritance and expression of Disorganization, an unusual mutation in the mouse.
Journal of Experimental Zoology
137:389–423

Hummel, K.P. 1959. Developmental anomalies in mice resulting from action of the gene Disorganization, a semi-dominant lethal.
Pediatrics
23: 212–21

Ianakiev, P. et al. 2000. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
American Journal of Human Genetics
68: 38–45

Imperato-McGinley, J. et al. 1974. Steroid 5-alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism.
Science
186: 1213–15

Imperato-McGinley, J. et al. 1991. A cluster of male pseudohermaphrodites with 5-Alpha-reductase deficiency in Papua New Guinea.
Clinical Endocrinology
34: 293–8

Incardona, J.P. 1998. The teratogenic
Veratrum
alkaloid cyclopamine inhibits sonic hedgehog signal transduction.
Development
125: 3553–62

International Sequencing Consortium. 2001. Initial sequencing and analysis of the human genome.
Nature
409: 860–921

Irving, J. 1862.
The drowned women of Wigton, a romance of the Covenant.
Porteous and Hislop, Glasgow

Isaac, A. et al. 2000. FGF and genes encoding transcription factors in early limb specification.
Mechanisms of Development
93: 41–8

Iwai, T. 1907. A statistical study on the polymastia of the Japanese.
Lancet
2: 753–4

Jackson, I.J. 1997. Homologous pigmentation mutations in human, mouse and other model organisms.
Human Molecular Genetics
6: 1613–24

Jackson, W.P.U. 951. Osteo-dental dysplasia (Cleidocranial dysostosis) ‘The Arnold Head’.
Acta Medica Scandinavica
139: 293–5

Janin, J. 1829. (1998)
Une femme à deux têtes.
S. Pestel (ed.) La collection électronique de la Bibliotéque Municipale de Lisieux.
http://ourworld.compuserve.com./homepages/bibhhlisieux/

Jarvik, G.P. et al. 1994. Non-mendelian transmission in a human developmental disorder: Split Hand/Split Foot.
American Journal of Human Genetics
55: 710–13

Jeannotte, L. et al. (1993) Specification of axial identity in the mouse: role of the Hoxa5 (Hox1. 3) gene.
Genes and Development
7: 2085–96

Jenkins, P. 1998. Cancer in acromegaly.
Trends in Endocrinology and Metabolism
9: 360–6

Johanson, D. and B. Edgar. 1996.
From Lucy to language.
Orion, London

Joseph, R. and P. Godson. 1988. Peace at last for tragic Rita: white outcase in black skin.
Sunday Times
(Johannesburg). 28 August. p. 12

Jost, A. 1946–47. Recherches sur la différenciation sexuelle de l’embryon de lapin (Trbisiéme Partie).
Archives d’anatomie microscopique et de morphologie expérimental
36: 271–315

Jung, H.-S. et al. 1998. Local inhibitory action of BMPs and their relationships with activators in feather formation: implications for periodic patterning.
Developmental Biology
196: 11–23

Kappler, C. 1980.
Monstres, démons et merveilles á la fin du Moyen age.
Payot, Paris

Kaufman, M.H. and K.S. O’Shea. 1978. Induction of monozygotic twinning in the mouse.
Nature
276: 707–8

Keith, A. 1911. An inquiry into the nature of the skeletal changes in acromegaly
Lancet
i: 993–1002

Kenyon, C. et al. 1993. A
C. elegans
mutant that lives twice as long as wild type.
Nature
366: 461–4

Kere, J. et al. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein.
Nature Genetics
13: 409–16

Kingdon-Ward, F. 1924.
From China to Hkamti Long.
Edward Arnold, London

Kingdon-Ward, F. 1937.
Plant hunter’s paradise.
Jonathan Cape, London

Kirk, G.S. 1974.
The nature of the Greek myths.
Penguin, Harmondsworth, UK

Knussmann, R. et al. 1992. Relations between sex hormone level and characteristics of hair and skin in healthy young men.
American Journal of Physical Anthropology
88: 59–67

Kobelt, G.L. 1844. The female sex organs in humans and some mammals (trans. H.F. Bernays) in Lowry, T.P. (1978)
The classic clitoris, historical contributions to scientific sexuality.
Nelson-Hall, Chicago

Kohn, M. 1995.
The race gallery: the return of racial science.
Jonathan Cape, London

Kollar, E.J. and C. Fisher. 1980. Tooth induction in chick epithelium: expression of quiescent genes for enamel synthesis.
Science
207: 993–5

Komori et al. 1997. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts.
Cell
89: 755–64

Kondo, S. et al. 2001. The medaka rs-3 locus required for scale development encodes ectodysplasin-A receptor.
Current Biology
7: 1201–6

Kondo, T. et al. 1997. Of fingers, toes, and penises.
Nature
390: 29

Koren, Y. and E. Negev. 2003.
Im Herzen waren wir Riesen.
Econ, Munich

Kornak, U. et al. 2000. Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis.
Human Molecular Genetics
9: 2059–63

Kostic, D. and M.R. Capecchi. 1994. Targeted disruptions of the murine HoxA-4 and HoxA-6 genes result in homeotic transformations of components of the vertebral column.
Mechanisms of Development
46: 231–47

Kremer, H. et al. 1995. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinising hormone receptor gene.
Nature Genetics
9: 160–4

Krude, H. et al. 1998. Severe early onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.
Nature Genetics
19: 155–7

Kruglyak, L. and D.A. Nickerson. 2001. Variation is the spice of life.
Nature Genetics
27: 234–6

Krzisnik, C. et al. 1999. The ‘Little People’ of the Island of Krk – Revisited. Etiology of hypopituitarism revealed.
Journal of Endocrine Genetics
1:9–19

Kuester and Happle. 1984. The inheritance of common baldness. Two B or not two B?
Journal of the American Academy of Dermatology
11: 921–6

Läära, E. and P. Rantakallio. 1996. Body size and mortality in women: a 29-year follow up of 12,000 pregnant women in northern Finland.
Journal of Epidemiology and Community Health
50: 408–14

Lahr, M.M. 1996.
The evolution of modern human diversity: a study in cranial variation.
Cambridge University Press

Lamb, T.M. et al. 1993. Neural induction by the secreted polypeptide noggin.
Science
262: 713–18

Lammer, E.J. et al. 1985. Retinoic acid embryopathy.
New England Journal of Medicine
313: 837–41

Landucci, L. 1542, 1927.
A Florentine diary from 1450 to 1516 by Luca Landucci, continued by an anonymous writer till 1542 with notes by Iodoco del Badia
(trans. A. de Rosen Jervis). J.M. Dent & Sons, London

Lanza, R.P. et al. 2000. Extension of cell life-span and telomere length in animals cloned from senescent somatic cells.
Science
288: 665–8

Laqueur, T.W. 1989. ‘Amor Veneris, vel Dulcedo Appeleteur’ pp.90–131 in M. Feher (ed.)
Zone
5.
Fragments for a history of the human body, part
3. Zone, N.Y.

Laqueur, T.W. 1990.
Making sex, body and gender from the Greeks to Freud
, Harvard University Press, Cambridge. Mass.

Laue, L.L. et al. 1996. Compound heterozygous mutations of the luteinising hormone receptor gene in Leydig cell hypoplasia.
Molecular Endocrinology
10: 987–97

Lawrence, P. 1992.
The making of a fly
. Blackwell. London

Laycock, J. and P. Wise. 1996.
Essential Endocrinology.
(3rd ed.) Oxford University Press

Lazner, F. et al. 1999. Osteopetrosis and osteoporosis: two sides of the same coin.
Human Molecular Genetics
8: 1839–46

Le Guyader, H. 1998.
Étienne Geojfroy Saint-Hilaire (1772–1844): un naturalist visionnaire.
Belin, Paris

Le Mouellic, H. et al. 1992. Homeosis in the mouse induced by a null mutation in the Hox-3. 1 gene.
Cell
69: 251–64

Le Roith, D. et al. 2001. What is the role of circulating IGF?
Trends in Endocrinology and Metabolism
12: 48–52

Lee, C-K. et al. 1999. Gene expression profile of aging and its retardation by caloric restriction.
Science
285: 1390–3

Lee, H.W. et al. 1998. Essential role of mouse telomerase in highly proliferative organs.
Nature
392: 569–74

Lee, P.A. and S.F. Witchel. 1997. The influence of estrogen on growth.
Current opinion in pediatrics
9: 431–6

Lenz, W. 1962. Thalidomide and congenital abnormalities.
Lancet
i: 45

Leroi, A.M. 2001. Molecular signals versus the loi
de balancement. Trends in Ecology and Evolution.
16: 24–9

Leroi, A.M. et al. 2003. Cancer selection.
Nature Cancer Reviews
3: 226–31

Lettice, L.A. et al. 2002. Disruption of a long-range cis-acting regulator for Shh causes preaxial Polydactyly.
Proceedings of the National Academy of Sciences, USA
99: 7548–53

Levin, M. et al. 1995. A molecular pathway determining left-right asymmetry in chick embryogenesis.
Cell
82: 803–14

Levin, M.
et al.
1996. Laterality defects in conjoined twins.
Nature
384: 321

Lewandoski, M. et al. 2000. Fgf8 signalling from the AER is essential for normal limb development.
Nature Genetics
26: 460–3

Lewis, E. 1978. A gene complex controlling segmentation in
Drosophila. Nature
27: 565–70

Lewis, T. and D. Embleton. 1908. Split-hand and split-foot deformities, their types, origin, and transmission.
Biometrika
6: 26–58

Li, J. et al. 1997. Dinucleotide repeat in the 3’ flanking region provides a clue to the molecular evolution of the Duffy gene.
Human Genetics
99: 573–7

Liceti, F. 1634.
De monstrorum natura caussis et differentiis.
Padua

Licht, P. et al. 1992. Hormonal correlates of ‘masculinisation’ in female spotted hyenas (
Crocuta crocuta).
2. Maternal and fetal steroids.
Journal of reproduction and fertility
95: 463–74

Lickert, H. et al. 2002. Formation of multiple hearts in mice following deletion of beta-catenin in the embryonic endoderm.
Developmental Cell
3: 171–81

Lifton, R.J. 1986.
The Nazi doctors: medical kjlling and the pychology of genocide.
Macmillan, London

Lindroth, S. 1983. The two faces of Linnaeus, in T. Frangsmyr (ed.)
Linnaeus: the man and his work.
University of California Press, Berkeley

Linnaeus, C. 1758, 1939.
Systema naturae
10th edition. British Museum, London

Linnaeus, C. 1761.
Fauna svecica.
Stockholm

Lloyd, A.T. 1986. Pussy Cat, Pussy Cat, where have you been?
Natural History
95(7): 46–52

Logroño, R. et al. 1997. Heteropagus conjoined twins due to fusion of two embryos: report and review.
American Journal of Medical Genetics
73: 239–43

Lopez-Bermejo, A. et al. (2000). Genetic defects of the growth hormone-insulin-like growth factor axis.
Trends in Endocrinology and Metabolism
11:39–49

Lufkin, T. et al. 1991. Disruption of the Hox-1. 6 (Hoxa1) homeobox gene results in defects in a region corresponding to its rostral domain of expression.
Cell
66: 1105–19

Lupu, F. et al. 2001. Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth.
Developmental Biology
229: 141–62

McBride, W.B. 1961. Thalidomide and congenital abnormalities
Lancet
ii: 1358

McEwan, C. et al. 1997. (eds)
Patagonia: natural history, prehistory and
ethnography at the uttermost ends of the earth.
British Museum, London

Mackenbach, J.P. 1991. Narrowing inequalities in children’s height.
Lancet
338: 764