Amir, R.E., Van den Veyver, I.B., Wan, M., et al. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23, 185-158.
Anderson, P.B., & Rando, T.A. (1999). Neuromuscular disorders of childhood. Current Opinion in Pediatrics, 11, 497–503.
Ballesta, F., Queralt, R., Gomez, D., et al. (1999). Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Annales de Génétique, 42, 11–5.
Baty, B.J., Blackburn, B.L., & Carey, J.C. (1994). Natural history of trisomy 18 and trisomy 13, I: Growth, physical assessment, medical histories, survival and recurrence risk. American Journal of Medical Genetics, 49, 175-188.
Baty, B.J., Jorde, L.B., & Blackburn, B.L. (1994). Natural history of trisomy 18 and trisomy 13, II: Psychomotor development. American Journal of Medical Genetics, 49, 189-194.
Benn, P. (1998). Trisomy 16 and trisomy 16 mosaicism: A review. American Journal of Medical Genetics, 79, 121-133.
Chakrabarti, L., & Davies, K.E. (1997). Fragile X syndrome. Current Opinion in Neurology, 10, 142-147.
Chelly, J. (1999). Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Human Molecular Genetics, 8, 1833-1838.
Colman, S.D., Rasmussen, S.A., Ho, V.T., et al. (1996). Somatic mosaicism in a patient with neurofibromatosis type I. American Journal of Human Genetics, 58, 484-490.
Connor, J., Connor, J.M., & Ferguson-Smith, M.A. (1997). Essential medical genetics (5th ed.). St.Louis: Blackwell Science.
Cordell, H.J., & Todd, J.A. (1995). Multifactorial inheritance in type -1 diabetes. Trends in Genetics, 11, 499-504.
Couper, R. (1999). Prader-Willi syndrome. Journal of Paediatrics and Child Health, 35, 331-334.
Delatycki, M., & Gardner, R.J. (1997). Three cases of trisomy 13 mosaicism and a review of the literature. Clinical Genetics, 51, 403-407.
DeVries, D.D., Went, L.N., Bruyn, G.W., et al. (1996). Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. American Journal of Human Genetics, 58, 703-711.
Eggermann, T., Schubert, R., Engels, H., et al. (1999). Formation of supernumerary euchromatic short arm isochromosomes: Parent and cell stage of origin in new cases and review of the literature. Annales de Génétique, 42, 75-80.
Elcioglu, N., Mackie-Ogilvie, C., Daker, M., et al. (1998). FISH analysis in patients with clinical diagnosis of Williams syndrome. Acta Paediatrica, 87, 48-53.
Flint, J., Wilkie, A.O., Buckle, V.J., et al. (1995). The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genetics, 9, 132-140.
Gecz, J., & Mulley, J. (2000). Genes for cognitive function: Developments on the X. Genome Research, 10, 157-163.
Gelehrter, T.D., Collins, F.S., Gelehrter, T.F., et al. (1998). Principles of medical genetics (2nd ed.). Philadelphia: Lippincott Williams & Wilkins.
Gerdes, M., Solot, C., Wang, P.P., et al. (1999). Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. American Journal of Medical Genetics, 85, 127-133.
Green, P.M., Saad, S., Lewis, C.M., et al. (1999). Mutation rates in humans, I: Overall and sex-specific rates obtained from a population study of hemophilia B. American Journal of Human Genetics, 65, 1572-1579.
Guo, S.W., & Lange, K. (2000). Genetic mapping of complex traits: Promises, problems, and prospects. Theoretical Population Biology, 57, 1-11.
Haeusler, G. (1998). Growth hormone therapy in patients with Turner syndrome. Hormone Research, 49(Suppl. 2), 62-66.
Hall, J.C. (1992). Turner syndrome. In R.A. King, J.I. Rotter, & A.G. Motulsky (Eds.), The genetic basis of common disease (pp.895-914). Oxford, England: Oxford University Press.
Jacobs, P.A., Browne, C., Gregson, N., et al. (1992). Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. Journal of Medical Genetics, 29, 103-108.
Jiang, Y., Lev-Lehman, E., Bressler, J., et al. (1999). Genetics of Angelman syndrome. American Journal of Human Genetics, 65, 1-6.
Johnson, A., & Wapner, R.J. (1997). Mosaicism: implications for postnatal outcome. Current Opinion in Obstetrics and Gynecology, 9, 126-135.
Jones, K.L. (Ed.). (1997). Smith’s recognizable patterns of human malformation (5th ed.). Philadelphia: W.B. Saunders.
Jorde, L.B., Carey, J.C., & Bamshad, M.J., et al. (2001). Medical genetics (Rev. 2nd ed.). St. Louis: Mosby.
Kaplan, F. (1998). Tay-Sachs disease carrier screening: A model for prevention of genetic disease. Genetic Testing, 2, 271-292.
Khan, N.L., & Wood, N.W. (1999). Prader-Willi and Angelman syndromes: Update on genetic mechanisms and diagnostic complexities. Current Opinion in Neurology, 12, 149-154.
Lalande, M., Minassian, B.A., DeLorey, T.M., et al. (1999). Parental imprinting and Angelman syndrome. Advances in Neurology, 79, 421-429.
Lashkari, A., Smith, A.K., & Graham, J.M., Jr. (1999). Williams-Beuren syndrome: An update and review for the primary physician. Clinical Pediatrics, 38, 189-208.
Leonard, J.V., & Schapira, A.H. (2000a). Mitochondrial respiratory chain disorders, I: Mitochondrial DNA defects. Lancet, 355, 299-304.
Leonard, J.V., & Schapira, A.H. (2000b). Mitochondrial respiratory chain disorders, II: Neurodegenerative disorders and nuclear gene defects. Lancet, 355, 389–394.
Linden, M.G., Bender, B.G., & Robinson, A. (1995). Sex chromosome tetrasomy and pentasomy. Pediatrics, 96, 672-682.
MacLean, J.E., Teshima, I.E., Szatmari, P., et al. (2000). Ring chromosome 22 and autism: Report and review. American Journal of Medical Genetics, 90, 382-385.
Mannens, M., & Alders, M. (1999). Genomic imprinting: Concept and clinical consequences. Annals of Medicine, 31, 4-11.
Margolis, R.L., McInnis, M.G., Rosenblatt, A., et al. (1999). Trinucleotide repeat expansion and neuropsychiatric disease. Archives of General Psychiatry, 56, 1019-1031.
McDonald-McGinn, D.M., LaRossa, D., Goldmuntz, E., et al. (1997). The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing, 1, 99-108.
McFadden, D.E., & Friedman, J.M. (1997). Chromosome abnormalities in human beings. Mutation Research, 396, 129-140.
McInnis, M.G. (1996). Anticipation: An old idea in new genes. American Journal of Human Genetics, 59, 973-979.
McKusick, V.A. (1998). Mendelian inheritance in man: A catalog of human genes and genetic disorders (12th ed.). Baltimore: The Johns Hopkins University Press.
Meyer, L.M., Ramin, K.D., Ramsey, P.S., et al. (2000). Fluorescent in situ hybridization technique for the rapid detection of chromosomal abnormalities. Obstetrics and Gynecology. 95(4, Suppl. 1), S64.
Money, J. (1993). Specific neuro-cognitive impairments associated with Turner (45, X) and Klinefelter (47, XXY) syndromes: A review. Social Biology, 40, 147-151.
Neri, G., & Chiurazzi, P. (1999). X-linked mental retardation. Advances in Genetics, 41, 55-94.
Nicholls, R.D. (2000). The impact of genomic imprinting for neurobehavioral and developmental disorders. Journal of Clinical Investigation, 105, 413-418.
Nicolaidis, P., & Petersen, M.B. (1998). Origin and mechanisms of non-disjunction in human autosomal trisomies. Human Reproduction, 13, 313-319.
Nissenkorn, A., Zeharia, A., Lev, D., et al. (2000). Neurologic presentations of mitochondrial disorders. Journal of Child Neurology, 15, 44-48.
Peet, J., Weaver, D.D., & Vance, G.H. (1998). 49, XXXXY: A distinct phenotype. Three new cases and a review. Journal of Medical Genetics, 35, 420-424.
Pettenati, M.J., Rao, P.N., Phelan, M.D., et al. (1995). Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases. American Journal of Medical Genetics, 55, 171-187.
Reddy, P.H., Williams, M., & Tagle, D.A. (1999). Recent advances in understanding the pathogenesis of Huntington’s disease. Trends in Neuroscience, 22, 248-255.
Root, S., & Carey, J.C. (1994). Survival in trisomy 18. American Journal of Medical Genetics, 49, 170-174.
Ross, J.L., Stefanatos, G., Roeltgen, D., et al. (1995). Ullrich Turner syndrome: Neurodevelopmental changes from childhood through adolescence. American Journal of Medical Genetics, 58, 74-82.
Saenger, P. (1999). Growth-promoting strategies in Turner’s syndrome. Journal of Clinical Endocrinology and Metabolism, 84, 4345-4348.
Savage, A.R., Petersen, M.B., Pettay, D., et al. (1998). Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Human Molecular Genetics, 7, 1221-1227.
Simon, D.K., & Johns, D.R. (1999). Mitochondrial disorders: Clinical and genetic features. Annual Review of Medicine, 50, 111-127.
Smyth, C.M., & Bremner, W.J. (1998). Klinefelter syndrome. Archives of Internal Medicine, 158, 1309-1314.
Tawil, R. (1999). Outlook for therapy in the muscular dystrophies. Seminars in Neurology, 19, 81-86.
Teague, J.W., Morton, N.E., Dennis, N.R., et al. (1998). FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability. Proceedings of the National Academy of Sciences of the United States of America, 95, 719-724.
Teyssier, M., Charrin, C., Corgiolu Theuil, G., et al. (1992). Ring chromosome 17: Case report and review of the literature. Annales de Génétique, 35, 75-78.
Tsao, C.Y., & Mendell, J.R. (1999). The childhood muscular dystrophies: Making order out of chaos. Seminars in Neurology, 19, 9-23.
Uusimaa, J., Remes, A.M., Rantala, H., et al. (2000). Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics, 105, 598-603.
Venter, J.C., Adams, M.D., Meyers, E.W., et al. (2001). The sequence of the human genome. Science, 291, 1304-1351.
Vogel, F., & Rathenberg, R. (1975). Spontaneous mutation in man. Advances in Human Genetics, 5, 223-318.
Warren, S.T. (1997). Trinucleotide repetition and fragile X syndrome. Hospital Practice (Office Edition), 32(4), 73-76, 81-85, 90-92.
