1. Escudero, T., Fuster, C., Coll, M. D., and Egozcue, J. (1998) Cytogenetic analysis using simultaneous and sequential fluorescence in situ hybridization. Cancer Genet. Cytogenet. 100, 111-113.

2. Nath, J. and Johnson, K. L. (1998) Fluorescence in situ hybridization (FISH): DNA probe production and hybridization criteria. Biotech. Histochem. 73, 6-22.

3. Raimondi, S. C. (2000) Fluorescence in situ hybridization: molecular probes for diagnosis of pediatric neoplastic diseases. Cancer Invest. 18, 135-147.

4. Shaffer, L. G. (1997) Diagnosis of microdeletion syndromes by fluorescent in situ hybridization (FISH), in Current Protocols in Human Genetics (Dracopoli, N. C., Haines, J. L., Korf, B. R., et al., eds.) Supplement 14, 8.10.1.-8.10.14.

5. Kuwano, A., Ledbetter, S. A., Dobyns, W. B., Emanuel, B. S., and Ledbetter, D. H. (1991) Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet. 49, 707-714.

6. Boggs, B. A. and Chinault, A. C. (1997) Analysis of DNA replication by fluorescence in situ hybridization. Methods 13, 259-270.

7. Kitsberg, D., Selig, S., Brandeis, M., Simon, I., Keshet, I., Driscoll, D.J., et al. (1993) Allele-specific replication timing of imprinted gene regions. Nature 364, 459-463.

8. Simon, I., Tenzen, T., Reubinoff, B. E., Hillman, D., McCarrey, J. R., and Cedar, H. (1999) Asynchronous replication of imprinted genes is established in the gametes and maintained during development. Nature 401, 929-932.

9. Eden, S. and Cedar H. (1994) Role of DNA methylation in the regulation of transcription. Curr. Opin. Genet. Dev. 4, 255-259.

10. Lupski, J. R. (1998) molecular genetics of peripheral neuropathies, in Scientific American Molecular Neurology (Martin, J. B., ed.), Scientific American, Inc., New York, NY, pp. 239-255.

11. Lupski, J. R. (1997) Charcot-Marie-Tooth disease: a gene-dosage effect. Hospital Practice 32, 83-122.

12. Charcot, J-M and Marie P. (1886) Sur une forme particulaiere d'atrophie musculaire progressive souvent familiale debutante par les pied et les jambes et atteignant plus tard les mains. Rev. Med. 6, 97-138.

13. Tooth, H. (1886) The Peroneal Type of Progressive Muscular Atrophy. HK Lewis; London, UK.

14. Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin. Genet. 6, 98-118.

15. Lupski, J. R., Garcia, C. A., Parry, G., and Patel, P. I. (1991) Charcot-Marie-Tooth polyneuropathy syndrome: clinical electrophysiological and genetic aspects, in Current Neurology (Appel, S., ed.), Mosby-Yearbook Co., St. Louis, MO, USA, pp. 1-25.

16. Dyck, P. J. and Lambert, E. H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch. Neurol. 18, 619-625.

17. Kaku, D. A., Parry, G. J., Malamut, R., Lupski, J. R., and Garcia, C. A. (1993) Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43, 1806-1808.

18. Lupski, J. R. and Garcia, C. A. (1992) Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 2, 337-349.

19. Vance, J. M., Nicholson, G. A., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, M. C., et al. (1989) Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp. Neurol. 104, 186-189.

20. Bird, T. D., Ott, J., and Giblett, E. R. (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am. J. Hum. Genet. 34, 388-394.

21. Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H. H., and Wienker, T.F. (1985) X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum. Genet. 70, 38-42.

22. Lupski, J. R., de Oca-Luna, R. M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-232.

23. De Jong, J. G. Y. (1947) Over Families met hereditaire dispositie tot het optreden van neuritiden gecorreleered met migraine. Psychiatr. Neurol. Bull. 50, 60-76.

24. Staal, A., De Weerdt, C.J. and Went, L. N. (1965) Hereditary compression syndrome of peripheral nerves. Neurology 15, 1008-1017.

25. Behse, F., Buchthal, F., Carlsen, F. and Knapplis, G. G. (1972) Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95, 777-794.

26. Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I. and Lupski, J. R. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat. Genet. 2, 292-300.

27. Inoue, K., Dewar, K., Katsanis, N., Reiter, L.T., Lander, E.S., Devon K.L., et al. (2001) The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 11, 1018-1033.

28. Chance, P.F., Alderson, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143-151.

29. Reiter, L. T., Murakami, T., Koeuth, T., Gibbs, R. A., Lupski, J. R. (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum. Mol. Genet. 6, 1595-1603.

30. Raeymaekers, P., Timmerman, V., Nelis, E., de-Jonghe, P., Hoogendijk, J.E., Baas, F., et al. (1991) HMSN Collaborative Research Group: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc. Disord. 1, 93-97.

31. Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. I. and Lupski, J. R. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17. Hum. Mol. Genet. 3, 223-228.

32. Lopes, J., LeGuern, E., Gouider, R., Tardieu, S., Abbas, N., Birouk, N., et al. (1996) Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. Am. J. Hum. Genet. 58, 1223-1230.

33. Reiter, L. T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D. M., Gibbs, R. A., and Lupski, J.R. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat. Genet. 12, 288-297.

34. Matsunami, N., Smith, B., Ballard, L., Lensch, M. W., Robertson, M., Albertsen, H., et al. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat. Genet. 1, 176-179.

35. Timmerman, V., Nelis, E., Van, Hul. W., Nieuwenhuijsen, B.W., Chen, K.L., Wang, S., et al. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet. 1, 171-175.

36. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B.J., Pentao, L., et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1, 159-165.

37. Lupski, J. R. (1998) Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol. Med. 4, 3-11.

38. Shaffer, L. G., Kennedy, G. M., Spikes, A. S., and Lupski, J. R. (1997) Diagnosis of CMT1A and HNPP deletions by interphase FISH: implications for testing in the cytoge-netics laboratory. Am. J. Med. Genet. 69, 325-331.

39. Garbern, J., Cambi, F., Shy, M., and Kamholz, J. (1999) The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch. Neurol. 56, 1210-1214.

40. Pelizaeus F. (1885) Uber eine eigenthumliche Form spastischer Lahmung mit Cere-bralersheinungen auf hereditarer Grundlage (multiple Sklerose). Arch. Psychiatr. Nervenkr. 16, 698-710.

41. Merzbacher, L. (1910) Eine eigenartige familiarhereditaire Erkrankungsform (Aplasia axialis extracorticalis congenita). Z. Gesamte. Neurol. Pschiatr. 3, 1-138.

42. Seitelberger, F. (1995) Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol. 5, 267-273.

43. Boulloche, J. and Aicardi, J. (1986) Pelizaeus-Merzbacher disease: Clinical and nosological study. J. Child Neurol. 1, 233-239.

44. Kendall, B. E. (1993) Inborn errors and demyelination: MRI and the diagnosis of white matter disease. J. Inherited Metab. Dis. 16, 771-786.

45. Hodes, M., Pratt, V., and Dlouhy, S. (1993) Genetics of Pelizaeus-Merzbacher disease. Dev. Neurosci. 15, 383-394.

46. Sistermans, E. A., de Coo, R. F., De Wijs, I. J., Van Oost, B. A. (1998) Duplication of the proteolipid protein gene is a major cause of Pelizaeus-Merzbacher disease. Neurology 50, 1749-1754.

47. Mimault, C., Giraud G., Courtois, V., Cailloux, F., Boire, J. Y., Dastugue, B., and Boespflug-Tanguy, O. (1999) Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The clinical European network on brain dysmyelinating disease. Am. J. Hum. Genet. 65, 360-369.

48. Inoue, K., Osaka, H., Sugiyama, N., Kawanishi, C., Onishi, H, Nezu, A., et al. (1996) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am. J. Hum. Genet. 59, 32-39.

49. Woodward, K. and Malcolm, S. (1999) Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. TIG 15, 125-128.

50. Inoue, K., Osaka, H., Imaizumi, K., Nezu, A., Takanashi, J., Arii, J., et al. (1999) Proteo-lipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann. Neurol. 45, 624-632.

51. Woodward, K., Kendall, E., Vetrie, D., and Malcolm, S. (1998) Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am. J. Hum. Genet. 63, 207-217.

In Vitro Expression Systems and Studies of Protein Expression and Function

10 Ways To Fight Off Cancer

10 Ways To Fight Off Cancer

Learning About 10 Ways Fight Off Cancer Can Have Amazing Benefits For Your Life The Best Tips On How To Keep This Killer At Bay Discovering that you or a loved one has cancer can be utterly terrifying. All the same, once you comprehend the causes of cancer and learn how to reverse those causes, you or your loved one may have more than a fighting chance of beating out cancer.

Get My Free Ebook

Post a comment