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Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JBP. 'Cataplexy' in Coffin-Lowry syndrome. J Med Genet 1998; 35:94-98. This is a fascinating syndrome and the paper illustrates the importance of detailed clinical neurological assessment in patients with mental retardation who have 'funny turns'.
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Crow, Y.J.1
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Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing
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Ryan SG, Chance PF, Zou C-H, Spinner NB, Golden JA, Smietana S. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nature Genet 1997; 17:92-95. This is a unique disorder, and even nongeneticists could be fascinated by the inheritance pattern illustrated on the family tree diagram.
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Ryan, S.G.1
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Rett syndrome: A disorder affecting early brain growth
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Naidu S. Rett syndrome: a disorder affecting early brain growth. Ann Neurol 1997; 42:3-10. A comprehensive review is presented.
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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
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Schanen NC, Dahle EJR, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 1997; 61:634-641. What if Rett syndrome is due to something(s) other than an X-chromosome linked gene defect that is lethal in males? Taken as a whole, the clinical and molecular genetic evidence is not overwhelming.
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Am J Hum Genet
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Schanen, N.C.1
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A case-control family history study of autism
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A family study of autism: Cognitive patterns and levels in parents and siblings
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Fombonne E, Bolton P, Prior J, Jordan H, Rutter M. A family study of autism: cognitive patterns and levels in parents and siblings. J Child Psychol Psychiatry 1997; 38:667-683. This paper is essential reading for all psychiatrists and geneticists with an interest in autism.
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Neurobiology of autism
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Rapin I, Katzman R. Neurobiology of autism. Ann Neurol 1998; 43:7-14. A good, concise review is presented.
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Linkage-disequilibrium mapping of autistic disorder with 15q11-13 markers
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Cook EH, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, et al. Linkage-disequilibrium mapping of autistic disorder with 15q11-13 markers. Am J Hum Genet 1998; 62:1077-1083.
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A full genome screen for autism with evidence for linkage to a region on chromosome 7q
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International Molecular Genetic Study of Autism Consortium. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Molec Genet 1998; 7:571-578. This is an important research paper: a collaborative study using latest genetic technologies.
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An extended family with a dominantiy inherited speech disorder
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Localisation of a gene implicated in a severe speech and language disorder
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Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. Localisation of a gene implicated in a severe speech and language disorder. Nature Genet 1998; 18:168-170. This is a genetic paper, but it also has a good summary that refers to previous neuroscience studies on this, probably the most intensively investigated, speech impaired family anywhere in the world.
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Nature Genet
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Fisher, S.E.1
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