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  • J96,AJMG,Barone
    5 16148 Genova Italy American Journal of Medical Genetics 62 2 195 198 1996 Abstract Neuronal Intestinal Dysplasia type B NID B is a complex alteration of the enteric nervous system belonging to the group of intestinal dysganglionoses which may involve rectum colon and small intestine Second only to Hirschsprung disease HSCR NID B is one of the most frequent causes of chronic constipation and pseudo obstructive intestinal dysmotility Since

    Original URL path: http://linkage.rockefeller.edu/pub/j96ajmg_b.html (2012-11-26)
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  • J96,HumMolGenet,Bolino
    folded myelin sheaths or Charcot Marie Tooth type 4B CMT4B is a distinct clinical entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies We first described a large pedigree with CMT4B which showed a high consanguinity level and an autosomal recessive pattern of inheritance Through conventional linkage analysis we excluded linkage of the locus segregating in this pedigree to any of the known genes responsible for other HMSNs

    Original URL path: http://linkage.rockefeller.edu/pub/j96hmg_b.html (2012-11-26)
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  • NatureGenetics,96,Ginns
    percent of the population and if untreated is associated with an approximately 20 risk of suicide Twin family and adoption studies provide compelling evidence for a partial genetic aetiology but the mode s of inheritance has not been identified Nonetheless the majority of genetic linkage studies have assumed classical mendelian inheritance attributable to a single major gene Although segregation analyses have yielded inconsistent results with most studies rejecting a single

    Original URL path: http://linkage.rockefeller.edu/pub/j96ng_ginns.html (2012-11-26)
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  • J96,GenomeRes,Ranta
    Development College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute New York New York 10032 2 Department of Medical Genetics University of Helsinki Finland 3 Department of Pediatrics Kainuu Central Hospital Kajaani Finland 4 Genethon Evry France 5 Department of Otolaryngology University of Tubingen Germany 6 Corresponding author email tcg1 columbia edu FAX 212 781 2661 Genome Research Volume 6 Issue 5 351 360 May 1996 Abstract Progressive epilepsy with mental retardation EPMR is an autosomal recessive disorder discovered recently from an isolated region in Finland The disorder is characterized by normal early development generalized tonic clonic seizures with onset at 5 10 years of age and progressive mental retardation beginning 2 5 years after the onset of seizures We recently mapped the EPMR locus to a 7 cM region on chromosome 8p between markers AFM185xb2 and D8S262 A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM A yeast artificial chromosome YAC contig containing 22 YACs was constructed across the disease gene region The YAC contig is characterized by a collection of 19 YAC end sequence tag sites together with seven microsatellite markers The entire YAC contig spans a

    Original URL path: http://linkage.rockefeller.edu/pub/j96gr_r.html (2012-11-26)
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  • J95,JMedGen,Chatkupt
    NTD are among the most common and disabling birth defects The aetiology of NTD is unknown and their genetics are complex The majority of NTD cases are sporadic isolated non syndromic and generally considered to be multifactorial in origin Recently PAX3 formerly HuP2 the human homologue of mouse Pax 3 on chromosome 2q35 37 was suggested as a candidate gene for NTD because mutations of Pax 3 cause the mouse mutant Splotch Sp an animal model for human NTD Mutations in PAX3 were also identified in patients with both WS1 and NTD have been described suggesting pleiotropy or a contiguous gene syndrome Seventeen US families and 14 Dutch families with more than one affected person with NTD were collected and 194 people 50 affected from both data sets were genotyped using the PAX3 polymorphic marker The data were analyzed using affecteds only linkage analysis The lod scores were 7 30 US 3 74 Dutch and 11 04 combined at theta 0 0 under the assumption of the autosomal dominant model For the recessive model the lod score were 3 30 US 1 46 Dutch and 4 76 combined at theta 0 0 Linkage between PAX3 and familial NTD was excluded

    Original URL path: http://linkage.rockefeller.edu/pub/j95jmg_c.html (2012-11-26)
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  • Genomics95, Fann
    ratio R x f x m or the relative difference Q x f x m x f x m R 1 R 1 For a map of genetic markers spread along a chromosome Q d may be viewed as a graph of Q versus the midpoints d of the map intervals To estimate male and female map distances for each interval a noval method is proposed to evaluate the most

    Original URL path: http://linkage.rockefeller.edu/pub/j95geno_f.html (2012-11-26)
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  • J95,GenEpid,Leal
    12 859 862 1995 Abstract Previously a maximum likelihood method was described to construct a support interval for the risk This method is extended to incorporate genotype specific penetrance probabilities in the calculation of a risk support interval As an

    Original URL path: http://linkage.rockefeller.edu/pub/j95ge_lo.html (2012-11-26)
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  • J95,GenEpid,Matise
    Epidemiology 12 641 645 1995 Abstract Two tests for allelic association were applied to a simulated complex disease for the Genetic Analysis Workshop 9 The transmission disequilibrium test Spielman et al 1993 and the haplotype based haplotype relative risk approach Terwilliger and Ott 1992 were used to detect disease associated alleles in a set of 260 computer simulated markers located on six chromosomes and genotyped in 200 nuclear families This

    Original URL path: http://linkage.rockefeller.edu/pub/j95ge_m.html (2012-11-26)
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