Read Mutants Online

Authors: Armand Marie Leroi

Mutants (51 page)

Ramirez-Solis et al. 1993. Hoxb-4 (Hox-2. 6) mutant mice show homeotic transformation of a cerivical rudiment and defects in the closure of the sternal rudiments.
Cell
73: 279–94

Rana, B.K. et al. 1999. High polymorphism at the human melanocortin 1 receptor locus.
Genetics
151: 1547–57

Rancourt et al. 1995. Genetic interaction between Hoxb-5 and Hoxb-6 is revealed by nonallelic noncomplementation.
Genes and Development
9: 108–22

Reaume, A.G. et al. 1996. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury.
Nature Genetics
13: 43–7

Reed, T.E. and J.V. Neel. 1959. Huntington’s chorea in Michigan.
American Journal of Human Genetics
11: 107–635

Reeves, R.H. et al. 2001. Too much of a good thing: mechanisms of gene action in Down syndrome.
Trends in Genetics
17: 83–241

Reichert, H. and A. Simeone. 2001. Developmental genetic evidence for a monophyletic origin of the bilaterian brain.
Philosophical Transactions of the Royal Society B
356: 1533–44

Reynolds, A.J. et al. 1999. Trans-gender induction of hair follicles.
Nature
402: 46–7

Ricklefs, R.E. and C.E. Finch. 1995. Ageing: a natural history.
Scientific American
, N.Y.

Riddle, R.D et al. 1993. Sonic hedgehog mediates the Polarizing Activity of the ZPA.
Cell
75: 1401–16

Robbins, L.S. et al. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.
Cell
72: 827–34

Roberts, R.S. 1974. The making of a Rhodesian myth.
Rhodesian History
5: 89–91

Robins, A.H. 1991.
Biological perspectives on human pigmentation.
Cambridge University Press, Cambridge, UK

Rodriguez, J.M. 1870. Descripcion de un monstruo cuadruple, nacido en Durango el ano de 1860.
Gaceta Medica de Mexico
5: 33–48

Roessler, E. et al. 1996. Mutations in the human sonic hedgehog gene cause holoprosencephaly.
Nature Genetics
14: 357–60

Root, A. 1998. Editorial: does growth hormone have a role in the management of children with nongrowth hormone deficient short stature and intrauterine growth retardation?
Journal of Clinical Endocrinology and Metabolism
83: 1067–9

Rose, M.R. 1984. Laboratory evolution of postponed senescence in Drosophila melanogaster.
Evolution
38: 1004–10

Rose, M.R. 1991.
Evolutionary biology of ageing.
Oxford University Press, N.Y.

Rosen, D.R. et al. 1993. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
Nature
362: 59–62

Rosenbaum, S. et al. 1985. A survey of heights and weights of adults in Great Britain
Annals of Human Biology
12: 115–27

Rosenbloom, A.L. and J.G. Guevara-Aguirre. 1998. Lessons from the genetics of Laron syndrome.
Trends in Endocrinology and Metabolism
9: 276–83

Rosenburg, N.A. et al. 2002. Genetic structure of human populations.
Science
298: 2381–5

Rosenfeld, R.G. et al. 1994. Growth hormone (GH) insensitivity due to primary GH deficiency.
Endocrine Reviews
15: 369–90

Rousseau, F. et al. 1994. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Nature
371: 252–4

Rousseau, F. et al. 1995. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Nature Genetics
10: 11–12

Rubinsztein, D.C. 2002. Lessons from animal models of Huntington’s disease.
Trends in Genetics
18: 202–9

Rudolph, K.L. et al. 1999. Longevity, stress response, and cancer in aging telomerase-deficient mice.
Cell:
96: 701–12

Russell, A.J. et al. 1994. Mutation in the human gene for 3 alpha-hydroxys-teroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.
Journal of Molecular Endocrinology
12: 225–37

Sadler, T.W. 2000.
Langman’s medical embryology
(8th ed.) Lippincott Williams & Wilkins, Philadelphia

Saegusa, H. et al. 1996. Targeted disruption of Hoxc-4 locus results in axial skeleton homeosis and malformation of the xiphoid process.
Developmental Biology
174:55–64

Saint-Ange, M. 1830.
Journal hebdomaidaire de médécine
6: 42–9

Sakai, Y. et al. 20001. The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the ante-rio-posterior axis within the mouse embryo.
Genes and Development
15: 213–25

Samaras, T. and H. Elrick. 1999. Height, body size and longevity.
Acta Medica Okayama
53: 149–69

Samaras, T. et al. 1999. Height, health and growth hormone.
Acta Paediatrica
88: 602–9

Sandberg, D.E. et al. 1994. Short stature: a psychosocial burden requiring growth hormone therapy?
Pediatrics
94: 832–9

Sato, N. et al. 1999. Induction of the hair growth phase in postnatal mice by localized transient expression of sonic hedgehog.
Journal of Clinical Investigation
104: 855–64

Saunders, J.W. 1948. The proximo-distal sequence of origin of the parts of
the chick wing and the role of the ectoderm.
Journal of Experimental Zoology
108: 363–403

Saunders, J.W. and M.T. Gasseling. 1968. Ectodermal-mesenchymal interactions in the origin of limb symmetry. in R. Fleischmajer and R.F. Billingham (eds).
Epithelial-Mesenchymal interactions
pp.78–97. Williams and Wilkins, Baltimore

Scarry, E. 2000.
On beauty and being just.
Duckworth, London

Schächter, F. et al. 1994. Genetic associations with human longevity at the APOE and ACE loci.
Nature Genetics
6: 29–32

Schatz, F. 1901.
Die Griechischen Götter und die Menschlichen Missgeburten.
J. F. Bergmann Verlag, Wiesbaden (reprint 1969, Editions Rodopi, Amsterdam)

Schebesta, P. 1952.
Die Negrito Asiens
3 vols. Vienna

Schnaas, G. 1974. El Perro Pelon: mito, fantasia y biologia.
Gaceta medica de mexico
108: 393–400

Schnitzer, E. 1888.
Emin Pasha in central Africa.
Schweinfurth, G., Ratzel, F. Felkin, R.W. Hartlauer, G. (eds) Philip and Son. London

Schweinfurth, G. 1878.
The heart of Africa
(trans. E. E. Frewer). 3rd edition. Sampson Low, Marston, Searle & Rivington, London

Segrave, K. 1996.
Baldness, a social history.
McFarland & Co. Jefferson, NC, USA

Sémonin, O. et al. 2001. Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.
American Journal of Medical Genetics
102: 314–17

Serres, E. 1832.
Recherches d’anatomie transcendante et pathologique. Théorie des formations et déformations organiques, appliquée á l’anatomie de Ritta-Christina, et de la duplicité monstrueuse.
J.B. Balliére, Paris

Seward, G.R. 1992.
The Elephant Man.
British Dental Association, London

Shriver, M.D. et al. 2003. Skin pigmentation, biogeographical ancestry and admixture mapping
Human Genetics
112: 387–99

Sgrò, C. and L. Partridge. 1999. A delayed wave of death from reproduction in
Drosophila. Science
286: 2521–4

Sharpe, P. 2001. Fish scale development: hair today, teeth and scales yesterday?
Current Biology
11:R751–2

Sharpe, R.M. 1998. The roles of estrogen in the male.
Trends in Endocrinology and Metabolism
9: 371–7

Shay, J.W. and W.E. Wright. 2000. Hayflick, his limit, and cellular ageing.
Nature Reviews Molecular Cell Biology
1: 72–5

Shea, B.T and A.M. Gomez. 1988. Tooth scaling and evolutionary dwarfism: an investigation of allometry in human pygmies.
American Journal of Physical Anthropology
77: 117–32

Shea, B.T. 1989. Heterochrony in human evolution: the case for neoteny reconsidered.
Yearbook of Physical Anthropology
32: 69–101

Shea, B.T. and R.C. Bailey. 1986. Allometry and adaptation of body proportions and stature in African pygmies.
American Journal of Physical Anthropology
100: 311–40

Shiels, P.G. et al. 1999. Analysis of telomere lengths in cloned sheep.
Nature
399: 317

Shozu, M. et al. 1991. A new cause of female pseudohermaphroditism: placental aromatase deficiency.
Journal of Clinical Endocrinology and Metabolism
72: 560–6

Shubin, N.H. and P. Alberch. 1986. A morphogenetic approach to the organization of the tetrapod limb.
Evolutionary Biology
20: 319–87

Shubin, N.H. et al. 1997. Fossils, genes and the evolution of animal limbs.
Nature
388: 639–48

Sidow, A. et al. 1999. A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.
Nature Genetics
23: 104–7

Siebold, von C.T. 1878. Die Haarige familie von Ambras.
Archiv für Anthropolgie
10: 253–60

Silventoinen, K. et al. 1999. Social background, adult body-height and health.
International Journal of Epidemiology
28: 911–18

Siminoski, K. and J. Bain. 1993. The relationship among height, penile length and foot size.
Annals of Sex Research
6: 231–5

Sinclair, A.H. et al. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
Nature
346: 240–4

Slijper, E.J. 1942. Biologic-anatomical investigations on the bipedal gait and upright posture in mammals, with special reference to a little goat, born without forelegs. I., II.
Proceedings Koninklijke Nederlandse Academie van Wetenschap
45: 288–95; 407–15

Smith, E.P. et al. 1994. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
New England Journal of Medicine
331: 1056–61

Smith, R. et al. 1998. Melanocortin 1 receptor variants in an Irish population.
Journal of Investigative Dermatology
111: 119–22

Sordino, P. et al. 1995. Hox gene expression in teleost fins and the origin of vertebrate digits.
Nature
375: 678–81

Sornson, M.W. et al. 1996. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism.
Nature.
384: 327–32

Sparks, C.S. and R.L. Jantz. 2002. A reassessment of human cranial plasticity: Boas revisited.
Proceeding of the National Academy of Sciences USA
99: 14636–9

Spemann, H. and H. Mangold 1924. Über die induktion von Embryonalanlagen durch Implantation artfremder Organisatoren.
Archiv
für miikroskopische Anatomie und Entwicklungsmechanik
100: 599–638

Spencer, R. 2000a. Theoretical and analytical embryology of conjoined twins: Part 1: Embryogenesis.
Clinical Anatomy
13: 36–53

Spencer, R. 2000b. Theoretical and analytical embryology of conjoined twins: Part 2: Adjustments to union.
Clinical Anatomy
13: 97–20

Spencer, R. 2001. Theoretical and analytical embryology of conjoined twins: Part 3: External, internal (fetuses in fetu and teratomas), and detached (Acardiacs).
Clinical Anatomy
14: 428–44

Steinman, G. 2001a. Mechanisms of twinning. I. Effect of environmental diversity on genetic expression in monozygotic multifetal pregnancies.
The Journal of Reproductive Medicine
46: 467–72

Steinman, G. 2001b. Laterality and intercellular bonding in monozygotic twinning.
The Journal of Reproductive Medicine.
46: 473–9

Stephens, J.C. et al. 2001. Haplotype variation and linkage disequilibrium in 313 human genes.
Science
293: 489–93

Stephens, T.D. et al. 2000. Mechanism of action in thalidomide teratogenesis.
Biochemical Pharmacology
59: 1489–99

Stevens, G. et al. 1997. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.
Human Genetics
99: 523–7

Stratakis, C.A. et al. 1998. The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription.
Journal of Clinical Endocrinology and Metabolism
83: 1348–57

Sturm, R.A. et al. 1998. Human pigmentation genetics: the difference is only skin deep.
Trends in Genetics
20: 712–21

Subramaniam, J.R. et al. 2002. Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading.
Nature Neuroscience
5: 301–7

Sun, X. et al. 2002. Functions of FGF signalling from the apical ectodermal ridge in limb development.
Nature
418: 501–8

Sutton, J.B. 1890.
Evolution and disease.
Walter Scott, London

Szabo, G. et al. 1969. Racial differences in the fate of the melanosomes.
Nature
222: 1081–2

Tabin, C. 1998. A developmental model for thalidomide defects.
Nature
396: 322–3

Tabin, C. 1999. Developmental model for thalidomide action – reply.
Nature
400: 420

Takahashi, E. Secular trend in milk consumption and growth in Japan.
Human Biology
56: 427–37

Ta-Mei, W
.
et al. 1982. Craniopagus parasiticus: a case report of a parasitic head protruding from the right side of the face.
British Journal of Plastic Surgery
35: 304–11

Tang, D.G. et al. 2001. Lack of replicative senesence in cultured rat oligodendrocyte precusor cells.
Science
291: 868–71

Tanner, J.M. 1981.
A history of the study of human growth.
Cambridge University Press, Cambridge, UK

Tanner, J.M. 1984.
Foetus into man.
(Revised ed.) Harvard University Press, Cambridge, Mass.

Other books

Beware of Pity by Stefan Zweig
Fairstein, Linda - Final Jeopardy by Final Jeopardy (v1.1) [html]
Turning Night by Viola Grace
Nipped in the Bud by Stuart Palmer
The Chalk Circle Man by Fred Vargas
Team Challenge by Janet Rising