Online Mendelian Inheritance in Man (OMIM) (2023)

  1. Allanson, J. E., Ledbetter, D. H., Dobyns, W. B. Classical lissencephaly syndromes: does the face reflect the brain? J. Med. Genet. 35: 920-923, 1998. [PubMed: 9832039] [Full Text: https://doi.org/10.1136/jmg.35.11.920]

  2. Batanian, J. R., Ledbetter, S. A., Wolff, R. K., Nakamura, Y., White, R., Dobyns, W. B., Ledbetter, D. H. Rapid diagnosis of Miller- Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum. Genet. 85: 555-559, 1990. [PubMed: 2227942] [Full Text: https://doi.org/10.1007/BF00194237]

  3. Bordarier, C., Robain, O., Rethore, M.-O., Dulac, O., Dhellemmes, C. Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17. Hum. Genet. 73: 374-378, 1986. [PubMed: 3744365] [Full Text: https://doi.org/10.1007/BF00279105]

  4. Bruno, D. L., Anderlid, B.-M., Lindstrand, A., van Ravenswaaij-Arts, C., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C., Adam, M. P., Kooy, R. F., Van der Aa, N., and 17 others. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J. Med. Genet. 47: 299-311, 2010. [PubMed: 20452996] [Full Text: https://doi.org/10.1136/jmg.2009.069906]

  5. Cardoso, C., Leventer, R. J., Ward, H. L., Toyo-oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J., Pilz, D. T., Olney, A. H., Mutchinick, O. M., Hirotsune, S., Wynshaw-Boris, A., Dobyns, W. B., Ledbetter, D. H. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72: 918-930, 2003. [PubMed: 12621583] [Full Text: https://doi.org/10.1086/374320]

  6. Chong, S. S., Lo Nigro, C., Roschke, A. V., Tanigami, A., Pack, S. D., Smith, A. C. M., Carrozzo, R., Dobyns, W. B., Ledbetter, D. H. Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996.

  7. De Rijk-van Andel, J. F., Catsman-Berrevoets, C. E., Halley, D. J. J., Wesby-van Swaay, E., Niermeijer, M. F., Oostra, B. A. Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. Hum. Genet. 87: 509-510, 1991. [PubMed: 1879837] [Full Text: https://doi.org/10.1007/BF00197179]

  8. Dhellemmes, C., Girard, S., Dulac, O., Robain, O., Choiset, A., Tapia, S. Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. Hum. Genet. 79: 163-167, 1988. [PubMed: 3391613] [Full Text: https://doi.org/10.1007/BF00280557]

  9. Dieker, H., Edwards, R. H., ZuRhein, G., Chou, S. M., Hartman, H. A., Opitz, J. M. The lissencephaly syndrome. In: Bergsma, D. (ed.): The Clinical Delineation of Birth Defects: Malformation Syndromes. Vol II. New York: National Foundation-March of Dimes (pub.) 1969. Pp. 53-64.

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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]

  11. Dobyns, W. B., Reiner, O., Carrozzo, R., Ledbetter, D. H. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270: 2838-2842, 1993. [PubMed: 7907669] [Full Text: https://doi.org/10.1001/jama.270.23.2838]

  12. Dobyns, W. B., Stratton, R. F., Greenberg, F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am. J. Med. Genet. 18: 509-526, 1984. [PubMed: 6476009] [Full Text: https://doi.org/10.1002/ajmg.1320180320]

  13. Dobyns, W. B., Stratton, R. F., Parke, J. T., Greenberg, F., Nussbaum, R. L., Ledbetter, D. H. The Miller-Dieker syndrome: lissencephaly and monosomy 17p. J. Pediat. 102: 552-558, 1983. [PubMed: 6834189] [Full Text: https://doi.org/10.1016/s0022-3476(83)80183-8]

  14. Dobyns, W. B., vanTuinen, P., Ledbetter, D. H. Clinical diagnostic criteria for Miller-Dieker syndrome. (Abstract) Am. J. Hum. Genet. 43: A46, 1988.

  15. Garcia, C. A., Dunn, D., Trevor, R. The lissencephaly (agyria) syndrome in siblings: computerized tomographic and neuropathologic findings. Arch. Neurol. 35: 606-611, 1978.

  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: https://doi.org/10.1002/ajmg.1320230402]

  17. Hanahan, D. J. A. Platelet activating factor: a biologically active phosphoglyceride. Annu. Rev. Biochem. 55: 483-509, 1986. [PubMed: 3017194] [Full Text: https://doi.org/10.1146/annurev.bi.55.070186.002411]

  18. Hattori, M., Adachi, H., Tsujimoto, M., Arai, H., Inoue, K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase. Nature 370: 216-218, 1994. Note: Erratum: Nature 370: 391 only, 1994. [PubMed: 8028668] [Full Text: https://doi.org/10.1038/370216a0]

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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: https://doi.org/10.1136/jmg.33.1.69]

  21. Kohler, A., Hain, J., Muller, U. Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome. Clin. Genet. 47: 161-164, 1995. [PubMed: 7634541] [Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03951.x]

  22. Kuwano, A., Ledbetter, S. A., Dobyns, W. B., Emanuel, B. S., Ledbetter, D. H. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet. 49: 707-714, 1991. [PubMed: 1897521]

  23. Landrieu, P., Goffinet, A. Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice. Cell Tissue Res. 218: 293-301, 1981. [PubMed: 6167365] [Full Text: https://doi.org/10.1007/BF00210345]

  24. Ledbetter, D. H. Personal Communication. Houston, Texas 5/27/1983.

  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: https://doi.org/10.1073/pnas.86.13.5136]

  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: https://doi.org/10.1002/ajmg.1320590409]

  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: https://doi.org/10.1136/jmg.2009.069112]

  31. Miller, J. Q. Lissencephaly in 2 siblings. Neurology 13: 841-850, 1963. [PubMed: 14066999] [Full Text: https://doi.org/10.1212/wnl.13.10.841]

  32. Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., and 13 others. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J. Med. Genet. 46: 825-833, 2009. [PubMed: 19584063] [Full Text: https://doi.org/10.1136/jmg.2009.067637]

  33. Neer, E. J., Schmidt, C. J., Smith, T. LIS is more. Nature Genet. 5: 3-4, 1993. [PubMed: 8220419] [Full Text: https://doi.org/10.1038/ng0993-3]

  34. Norman, M. G., Roberts, M., Sirois, J., Tremblay, L. J. M. Lissencephaly. Canad. J. Neurol. Sci. 3: 39-46, 1976. [PubMed: 175907] [Full Text: https://doi.org/10.1017/s0317167100025981]

  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: https://doi.org/10.1002/ajmg.1320400328]

  36. Pollin, T. I., Dobyns, W. B., Crowe, C. A., Ledbetter, D. H., Bailey-Wilson, J. E., Smith, A. C. M. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am. J. Med. Genet. 85: 369-375, 1999. [PubMed: 10398263]

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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: https://doi.org/10.1038/364717a0]

  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: https://doi.org/10.1016/0022-510x(64)90053-x]

  39. Schinzel, A. Microdeletion syndromes, balanced translocations, and gene mapping. J. Med. Genet. 25: 454-462, 1988. [PubMed: 3050093] [Full Text: https://doi.org/10.1136/jmg.25.7.454]

  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: https://doi.org/10.1007/BF00451469]

  42. Sharief, N., Craze, J., Summers, D., Butler, L., Wood, C. B. S. Miller-Dieker syndrome with ring chromosome 17. Arch. Dis. Child. 66: 710-712, 1991. [PubMed: 1711306] [Full Text: https://doi.org/10.1136/adc.66.6.710]

  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: https://doi.org/10.1007/BF00273000]

  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: https://doi.org/10.1093/hmg/ddh116]

  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: https://doi.org/10.1038/ng1169]

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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: https://doi.org/10.1086/378096]

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