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  • HumHered95, Ott
    or endophenotypes may be used to help delineate the relationships between underlying trait genotypes and trait phenotypes However analyzing quantitative biological markers jointly with a qualitative trait phenotype affected versus unaffected for linkage with genetic marker loci is not straightforward For the situation in which both the biological marker s and the qualitative trait phenotype are under the control of underlying genotypes a simple method is developed for jointly using

    Original URL path: http://linkage.rockefeller.edu/pub/j95hh_o.html (2012-11-26)
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  • AJGH,95,Pauls
    Gravius Tim P Keith Janice A Egeland Edward I Ginns American Journal of Human Genetics 57 636 643 1995 Abstract Previously reported linkage of bipolar affective disorder to DNA markers in the pericentromeric region of chromosome 18 was reexamined in a larger homogeneous sample of Old Order Amish families Four markers D18S21 D18S53 D18S44 and D18S40 were examined in three kindreds containing 31 bipolar I BP I individuals Although linkage

    Original URL path: http://linkage.rockefeller.edu/pub/j95ajhg_po.html (2012-11-26)
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  • J94,PsyGen,Baron
    series of 57 extended pedigrees with high density of bipolar affective disorder is described Ascertainment and diagnostic procedures are documented and simulation studies to assess statistical power are carried out The pedigrees obtained in the US and Israel are comprised of 1508 adult individuals with best estimate consensus diagnoses 12 71 relatives per pedigree 490 of whom including 401 sib pairs meet criteria for a conservative disease definition bipolar disorder

    Original URL path: http://linkage.rockefeller.edu/pub/j94pg_b.html (2012-11-26)
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  • J94,AJMG,Chatkupt
    with anterior meningocele SDAM is a type of caudal dysgenesis It is present at birth and becomes symptomatic later in life usually because of obstructive labor in females chronic constipation rectal fistula and abscess or meningitis The inheritance is autosomal dominant HLA has been implicated in caudal dysgenesis because of analogy with disorders of the T locus complex a tail length determining gene in mice which is linked to the

    Original URL path: http://linkage.rockefeller.edu/pub/j94ajmg_c.html (2012-11-26)
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  • J94,BriJPsych,Crow
    the pseudoautosomal region in 85 families with two or more siblings suffering from schizophrenia or schizoaffective disorder A maximum lod score of 2 44 was reached at MIC2 with a dominant model of inheritance at a recombination fraction of 0 367 in females and 0 046 in males a F M sex ratio 1 i e opposite to that expected with a pseudoautosomal locus Evidence consistent with linkage P 0

    Original URL path: http://linkage.rockefeller.edu/pub/j94bjp_c.html (2012-11-26)
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  • J94,AJMG,DeLisi
    sibship Based on the hypothesis that a gene for schizophrenia could be X Y linked with homologous loci on both X and Y our analyses included all families regardless of the pattern of familial inheritance Lod scores were computed with both standard X linked and a novel X Y model and sib pair analyses were performed for all markers examining the sharing of maternal alleles Small positive lod scores were

    Original URL path: http://linkage.rockefeller.edu/pub/j94ajmg_d.html (2012-11-26)
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  • J94,PhilTranLondon,Gabizon
    Various mutations in the prion protein PrP gene are associated with Creutzfeldt Jakob disease CJD a transmissible fatal neurodegenerative disorder Among Libyan Jews CJD is a familial disease with an incidence about 100 times higher than the worldwide population CJD in this community segregates with a point mutation at codon 200 of the PrP gene which causes the substitution of lysine for glutamate This mutation was found in all definitely affected individuals and yields a maximum lod score of 4 85 Some healthy elderly mutation carries above 65 years of age were identified suggesting partial penetrance Homozygous patients have the same disease pattern and age of onset as heterozygous patients which argues that CJD associated with the codon 200 lysine mutation is a true dominant disorder In the caucasian population Palmer et al 1991 reported an association between homozygosity in a polymorphic site at codon 129 of the PrP gene coding for either valine or methionine with a tendency to acquire the sporadic or iatrogenic forms of CJD as well as with disease age of appearance in the genetic type The incidence of the polymorphism at codon 129 in the control Libyan population is similar to the one found in

    Original URL path: http://linkage.rockefeller.edu/pub/j94ptrsl_g.html (2012-11-26)
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  • J94,NatureGene,James
    a high resolution radiation hybrid map of human chromosome 11 using 506 sequence tagged sites STSs scored on a panel of 86 radiation hybrids The 506 STSs fall into 299 unique positions average resolution of about 480 kilobases kb that span the whole chromosome A subset of 260 STSs 143 positions form a framework map that has a resolution of approximately 1 megabase between adjacent positions and is ordered with

    Original URL path: http://linkage.rockefeller.edu/pub/j94ng_j.html (2012-11-26)
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