The genetics of mental retardation

British Medical Bulletin

Volumn 52, Issue 3, 1996, Pages 453-464

  Flint, Jonathan ^a   Wilkie, Andrew O M ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ABERRATION; CHROMOSOME MAP; GENE FUNCTION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; INHERITANCE; MENTAL DEFICIENCY; MOLECULAR CLONING; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0029736830     PISSN: 00071420     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.bmb.a011559     Document Type: Review

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73. Rousseau F, Heitz D, Tarleton J et al. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 1994; 55: 225-37
74. Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 1994; 77: 33-9
75. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993; 74: 291-8
76. The Dutch-Belgian Fragile X Consortium. Fmrl knockout mice: a model to study fragile X mental retardation. Cell 1994; 78: 23-33
77. Weatherall DJ, Higgj DR, Bunch C et al. Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence? N Engl J Med 1981; 305: 607-12
78. Wilkie AOM, Zeitlin HC, Lindenbaum RH et al. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II Cases without detectable of the α globin complex.. Am J Hum Genet 1990; 46: 1127-40
79. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X Syndrome). Cell 1995; 80: 837-45
80. Joosten EAJ, Gribnau AAM. Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract. Neurosci Lett 1989; 100: 94-8
81. Brunner HG, Nelen MR, van Zandvoort P et al. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet 1993; 52: 1032-9
82. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993; 262: 578-80
83. Nicholls RD. New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994; 54: 733-40
84. Reis A et al. Exclusion of the GABA-receptor b3 subunit gene as the Angelman's syndrome gene. Lancet 1993; 341: 122-3
85. Hamabe J, Kuroki Y, Imaizumi K et al. DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet 1991; 41: 64-8
86. Kuwano A et al. Molecular dissection of the Prader-Willi/Angelman syndrome region (15p11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1992; 1: 417-25
87. Sutcliffe JS, Nakao M, Christian S et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet 1994; 8: 52-8
88. Crosby JL, Varnum DS, Nadeau JH. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet 1993; 52: 866-74
89. Beggs AH, Neumann PE, Arahata K et al. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci USA 1992; 89: 623-7
90. Fisher E, Scambler P. Human haploinsufficiency-one for sorrow, two for joy. Nature Genet 1994; 7: 5-7
91. Davies JL, Kawaguchi Y, Bennett ST et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994; 371: 130-6
92. Plomin R, McClearn GE, Smith DL et al. DNA markers associated with high versus low IQ: The IQ quantitative trait loci (QLT) project. Behav Genet 1994; 24: 107-18
93. Flint J, Yule W. Behavioural phenotypes. In: Rutter MR, Taylor E. Hersov L. (Eds) Child and Adolescent Psychiatry.Oxfoid: Blackwell Scientific, 1994: 666-87