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  • J90,PNAS,Ott
    1990 Jan Abstract Multilocus linkage analysis of 62 family pedigrees with X chromosome linked retinitis pigmentosa XLRP was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci the likelihood ratio being 6 4 x 10 9 1 in favor of two versus a single XLRP locus and gave accurate

    Original URL path: http://linkage.rockefeller.edu/pub/j90pnas_o.html (2012-11-26)
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  • J90,HumHeredity,Ott
    J Ott J Caesar M Machler A Schinzel W Schmid Human Heredity 40 5 305 307 1990 Abstract An unusual one generation family with myotonic dystrophy is presented in which genetic counseling was successfully carried out The probability of an

    Original URL path: http://linkage.rockefeller.edu/pub/j90hh_o.html (2012-11-26)
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  • J90,AJHG,Shiloh
    27 1990 Jul Abstract X linked albinism deafness syndrome ADFN was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness The ADFN mutation probably affects the migration of neural crest derived precursors of the melanocytes As a first step toward identifying the ADFN gene a linkage study was performed to localize the disease locus on the X chromosome The family was found to be informative for 11 of 107 RFLPs along the X and two point analysis showed four of them factor 9 F9 DXS91 DXS37 and DNF1 to have definite or suggestive linkage with ADFN Multipoint linkage analysis indicated two possible orders within this cluster of loci neither of which was preferable In both orders F9 was the most distal and the best estimate for the location of ADFN was between F9 and the next proximal marker 8 6 cM from F9 Z 8 1 or 8 3 cM from F9 Z 7 9 These results suggest that the ADFN is at Xq26 3 q27 1 Disagreement between our data and previous localization of DXS91 at Xq11 q13 was resolved by hybridization of the probe pXG 17 which detects the DXS91 locus to

    Original URL path: http://linkage.rockefeller.edu/pub/j90ajhg_s.html (2012-11-26)
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  • J90,GenEpid,Weeks
    definitions penetrance values and perhaps other model parameters The method consists of simulating the complete analysis using marker genotypes randomly generated under the assumption of free recombination It is applicable as a post treatment to linkage analyses of any trait with an uncertain mode of inheritance and or disease definition When the method is applied to a linkage analysis of schizophrenia versus chromosome 5 markers we find that in this

    Original URL path: http://linkage.rockefeller.edu/pub/j90ge_w.html (2012-11-26)
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  • J89,Nature,Hsiao
    ataxia or dementia and deteriorate until they die in one to ten years Protease resistant prion protein PrP and PrP immunoreactive amyloid plaques with characteristic morphology accumulate in the brains of these patients Current diagnostic criteria for Gerstmann Straussler syndrome incorporate clinical and neuropathological features as animal transmission studies can be unreliable PrP is implicated in the pathogenesis and transmission of the condition and in scrapie an equivalent animal disease

    Original URL path: http://linkage.rockefeller.edu/pub/j89n_h.html (2012-11-26)
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  • J89,SchiBull,Kauffman
    studies have suggested that a schizophrenia susceptibility locus may lie on the proximal long arm of chromosome 5 Partial trisomy of a 20 30 centimorgan region of chromosome 5 5q11 2 13 3 was found to cosegregate with schizophrenia in a Canadian family of Chinese descent Moreover DNA markers from proximal 5q D5S39 D5S76 were found to be linked to schizophrenia and related disorders in seven British and Icelandic families

    Original URL path: http://linkage.rockefeller.edu/pub/j89sb_k.html (2012-11-26)
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  • J89,PNAS,Ott
    given observed phenotypes at loci linked among themselves and with the markers The method is based on a well known expansion of the multivariate probability of genotypes given phenotypes into a product of conditional univariate probabilities that may be viewed as corresponding to conditionally independent univariate random variables This representation allows a recursive evaluation of the univariate probabilities that can be implemented in a surprisingly simple manner by carrying out

    Original URL path: http://linkage.rockefeller.edu/pub/j89pnas_o.html (2012-11-26)
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  • J89,GenEpid,Ott
    abstract 1981 a disease sample is constructed along with its own internal control by comparing those marker alleles passed from the parents to an affected child with the other parental marker alleles not transmitted Based on the conditional parental genotype distribution given that they have an affected child statistical properties of the HRR statistic are derived It is shown that the HRR is different from 1 only when allelic association

    Original URL path: http://linkage.rockefeller.edu/pub/j89ge_o.html (2012-11-26)
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