Online Mendelian Inheritance in Man (OMIM) (2023)

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  10. Dobyns, W. B., Curry, C. J. R., Hoyme, H. E., Turlington, L., Ledbetter, D. H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet. 48: 584-594, 1991. [PubMed: 1671808]

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  16. Greenberg, F., Stratton, R. F., Lockhart, L. H., Elder, F. F. B., Dobyns, W. B., Ledbetter, D. H. Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am. J. Med. Genet. 23: 853-859, 1986. [PubMed: 3963054] [Full Text:]

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  19. Hattori, M., Arai, H., Inoue, K. Purification and characterization of bovine brain platelet-activating factor acetylhydrolase. J. Biol. Chem. 268: 18748-18753, 1993. [PubMed: 8360169]

  20. Kingston, H. M., Ledbetter, D. H., Tomlin, P. I., Gaunt, K. L. Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. J. Med. Genet. 33: 69-72, 1996. [PubMed: 8825053] [Full Text:]

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  25. Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Nakamura, Y. Two VNTR probes reveal HTF islands and conserved sequences in a microdeletion syndrome. (Abstract) Am. J. Hum. Genet. 43: A111, 1988.

  26. Ledbetter, D. H., Ledbetter, S. A., vanTuinen, P., Summers, K. M., Robinson, T. J., Nakamura, Y., Wolff, R., White, R., Barker, D. F., Wallace, M. R., Collins, F. S., Dobyns, W. B. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region. Proc. Nat. Acad. Sci. 86: 5136-5140, 1989. [PubMed: 2740347] [Full Text:]

  27. Ledbetter, S. A., Kuwano, A., Dobyns, W. B., Ledbetter, D. H. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am. J. Hum. Genet. 50: 182-189, 1992. [PubMed: 1346078]

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  28. Masuno, M., Imaizumi, K., Nakamura, M., Matsui, K., Goto, A., Kuroki, Y. Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3). Am. J. Med. Genet. 59: 441-443, 1995. [PubMed: 8585563] [Full Text:]

  29. McKusick, V. A. Personal Communication. Baltimore, Md. 1996.

  30. Mignon-Ravix, C., Cacciagli, P., El-Waly, B., Mencla, A., Milh, M., Girard, N., Chabrol, B., Philip, N., Villard, L. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. J. Med. Genet. 47: 132-136, 2009. [PubMed: 19635726] [Full Text:]

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  33. Neer, E. J., Schmidt, C. J., Smith, T. LIS is more. Nature Genet. 5: 3-4, 1993. [PubMed: 8220419] [Full Text:]

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  35. Oostra, B. A., de Rijk-van Andel, J. F., Eussen, H. J., van Hemel, J. O., Halley, D. J. J., Niermeijer, M. F. DNA analysis in patients with lissencephaly type I and other cortical dysplasias. Am. J. Med. Genet. 40: 383-386, 1991. [PubMed: 1951447] [Full Text:]

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  37. Reiner, O., Carrozzo, R., Shen, Y., Wehnert, M., Faustinella, F., Dobyns, W. B., Caskey, C. T., Ledbetter, D. H. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717-721, 1993. [PubMed: 8355785] [Full Text:]

  38. Reznik, M., Alberca-Serrano, R. Forme familiale d'hypertelorisme avec lissencephalie se presentant cliniquement sous forme d'une arrieration mentale avec epilepsie et paraplegie spasmodique. J. Neurol. Sci. 1: 40-58, 1964. [PubMed: 14174045] [Full Text:]

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  40. Schwartz, C. E., Johnson, J. P., Holycross, B., Mandeville, T. M., Sears, T. S., Graul, E. A., Carey, J. C., Schroer, R. J., Phelan, M. C., Szollar, J., Flannery, D. B., Stevenson, R. E. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am. J. Hum. Genet. 43: 597-604, 1988. [PubMed: 2903661]

  41. Selypes, A., Laszlo, A. Miller-Dieker syndrome and monosomy 17p13: a new case. Hum. Genet. 80: 103-104, 1988. [PubMed: 3417298] [Full Text:]

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  43. Stratton, R. F., Dobyns, W. B., Airhart, S. D., Ledbetter, D. H. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum. Genet. 67: 193-200, 1984. [PubMed: 6745939] [Full Text:]

  44. Toyo-oka, K., Hirotsune, S., Gambello, M. J., Zhou, Z.-Q., Olson, L., Rosenfeld, M. G., Eisenman, R., Hurlin, P., Wynshaw-Boris, A. Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome. Hum. Molec. Genet. 13: 1057-1067, 2004. [PubMed: 15028671] [Full Text:]

  45. Toyo-oka, K., Shionoya, A., Gambello, M. J., Cardoso, C., Leventer, R., Ward, H. L., Ayala, R., Tsai, L.-H., Dobyns, W., Ledbetter, D., Hirotsune, S., Wynshaw-Boris, A. 14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genet. 34: 274-285, 2003. [PubMed: 12796778] [Full Text:]

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  46. vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., Ledbetter, D. H. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am. J. Hum. Genet. 43: 587-596, 1988. [PubMed: 3189330]

  47. vanTuinen, P., Ledbetter, D. H. Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract) Cytogenet. Cell Genet. 46: 708-709, 1987.

  48. Yingling, J., Toyo-oka, K., Wynshaw-Boris, A. Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. Am. J. Hum. Genet. 73: 475-488, 2003. [PubMed: 12905154] [Full Text:]


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