Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel).
نویسندگان
چکیده
منابع مشابه
Sixth international workshop on the fragile X and X-linked mental retardation.
The meeting, to be held in Cairns, North Queensland, Australia, on 3-6 August 1993, will focus on all aspects of research into fragile X syndrome and other forms of X linked mental retardation. It is designed primarily for those actively involved in research in these areas and all participants will be expected to contribute actively to the workshop format of the meeting. For more information pl...
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Jean-Pierre Fryns,1 Martine Borghgraef,1 Ted W. Brown,2 Jamel Chelly,3 Gene S. Fisch,4 Ben Hamel,5 André Hanauer,6 Didier Lacombe,7 Ligun Luo,8 James N. MacPherson,9 Jean-Louis Mandel,6 Claude Moraine,10 John Mulley,11 David Nelson,12 Ben Oostra,13 Michael Partington,14 Ger J.A. Ramakers,15 Hans-Hilger Ropers,16 François Rousseau,17 Charles Schwartz,18 Peter Steinbach,19 Claude Stoll,20 Lisbeth...
متن کاملX-linked mental retardation.
A survey of the mentally retarded children with an IQ between 30 and 55 born in a 10-year period (1955-64) and now of school age was carried out in New South Wales. The number of propositi who had a similarly affected sib of the same sex was ascertained; 58 boys had a similarly affected brother(s) and 22 girls had a similarly affected sister(s). It is suggested that the excess of affected broth...
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X chromosome inactivation has been hypothesised to play a role in the aetiology and clinical expression of the fragile X syndrome. The identification of the FMR1 gene involved in fragile X syndrome allows testing of the assumption that the fragile X locus is normally subject to X inactivation. We studied the expression of the FMR1 gene from inactive X chromosomes by reverse transcription of RNA...
متن کاملFragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.
Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal str...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.12.814