Association of asthma with a functional promoter polymorphism in the IL16 gene (2006)
Burkart, K. M., Barton, S. J., Holloway, J. W., Yang, I. A., Cakebread, J. A., Cruikshank, W., ...
Association of asthma with a functional promoter polymorphism in the IL16 gene (2006)
Burkart, K. M., Barton, S. J., Holloway, J. W., Yang, I. A., Cakebread, J. A., Cruikshank, W., ...
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease (1999)
Premkumar, S, Grubber, J, Serneels, L, Scott, W K, Kawarai, T, ...
Effects of Age and Ethnicity on the link between APOE ?4 and Alzheimer disease (1998)
Farrer, L.A., Duijn, C.M. Van, Mayeux R, Haines, J.L., Kukull, W.A., Hyman B, ...
Farrer, L.A., Cupples, L.A., Haines, J.L., Hyman, B., Kukull, W.A., Mayeux, R., ...
OBJECTIVE: To examine more closely the association between apolipoprotein E (APOE) genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and racial denominations. DATA...
Rao V., Cupples L., Duijn, C.M. Van, Kurz A., Green, R.C., Chui H., ...
Apolipoprotein E (APOE) genotype is the single most important determinant to the common form of Alzheimer disease (AD) yet identified. Several studies show that family history of AD is not entirely...
Farrer, L.A., Cupples A., Duijn, C.M. Van, Kurz A., Zimmer R., Mulller U., ...
Numerous studies have shown that the risk of Alzheimer's disease (AD) is associated with the dose of the epsilon 4 allele of apolipoprotein E (ApoE). However, more than one third of AD patients lack...
Rate of progression of Alzheimer's disease is associated with genetic risk. (1995)
Farrer, L.A., Cupples, L.A., Duijn, C.M. Van, Connor-Lacke L., Kiely, D.K., Growdon, J.H.
OBJECTIVE: To determine whether differences in genetic origin affect the clinical course of Alzheimer's disease (AD). The limited number of cases of AD linked to a known genetic abnormality is a...
A population-based study of familial Alzheimer's disease: linkage to chromosome 14, 19 and 21 (1994)
Duijn, C.M. Van, Hendriks L., Farrer, L.A., Backhovens H., Cruts M., Wehnert A., ...
Linkage of Alzheimer disease (AD) to DNA markers on chromosomes 14, 19, and 21 was studied in 10 families in which the disease was apparently inherited as an autosomal dominant trait. Families were...
Multiple etiologies for Alzheimer disease are revealed by segregation analysis. (1994)
Rao, V.S., Duijn, C.M. Van, Connor-Lacke L., Cupples, L.A., Growdon, J.H., Farrer, L.A.
We have evaluated several transmission models for Alzheimer disease (AD), using the logistic regressive approach in 401 nuclear families of consecutively ascertained and rigorously diagnosed...
Genetic transmission of Alzheimer disease among families in a Dutch population-based study (1993)
Duijn, C.M. Van, Farrer, L.A., Cupples, L.A., Hofman A.
We evaluated age at onset and transmission patterns of Alzheimer's disease (AD) in families of 198 patients who had onset of symptoms before the age of 65 years and were diagnosed before the age of...
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
Frydman, M, Bonné-Tamir, B, Farrer, L A, Conneally, P M, Magazanik, A, Ashbel, S, ...
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a...
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
DeStefano, A L, Baldwin, C T, Burzstyn, M, Gavras, I, Handy, D E, Joost, O, ...
Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a...
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
Farrer, L A, Cupples, L A, Wiater, P, Conneally, P M, Gusella, J F, Myers, R H
We evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent...
Polymorphic microsatellites and Wilson disease (WD)
Stewart, E. A., White, A., Tomfohrde, J., Osborne-Lawrence, S., Prestridge, L., Bonne-Tamir, B., ...
Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the...
Segregation analysis reveals evidence of a major gene for Alzheimer disease.
Farrer, L A, Myers, R H, Connor, L, Cupples, L A, Growdon, J H
In an attempt to resolve the relative influences of major genes, multifactorial heritability, and cohort effects on the susceptibility to Alzheimer disease (AD), complex segregation analysis was...
Estimation of morbid risk and age at onset with missing information.
Cupples, L A, Risch, N, Farrer, L A, Myers, R H
Investigators of genetic illnesses are currently employing life-table techniques to estimate the lifetime risk of disease and the age-at-onset distribution. This methodology assumes that onset ages...
Homozygote for Huntington disease.
Myers, R H, Leavitt, J, Farrer, L A, Jagadeesh, J, McFarlane, H, Mastromauro, C A, ...
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95%...
Farrer, L A, Goodfellow, P J, Lamarche, C M, Franjkovic, I, Myers, S, White, B N, ...
Members of four families in which multiple endocrine neoplasia type 2A (MEN-2A) is segregating were typed for seven DNA markers and one red cell enzyme marker on chromosome 13. Close linkage was...
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
Bowcock, A M, Farrer, L A, Cavalli-Sforza, L L, Hebert, J M, Kidd, K K, Frydman, M, ...
Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was...
Farrer, L A, Cupples, L A, Kiely, D K, Conneally, P M, Myers, R H
It is well recognized that age at onset of Huntington disease (HD) is strongly influenced by the sex of the affected parent, and this has lead to suggestions that genetic imprinting or maternal...
Ridley, R M, Farrer, L A, Frith, C D, Conneally, P M
Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive...
A genetic model for age at onset in Huntington disease.
Although numerous investigators have confirmed excess paternal transmission among juvenile-onset cases of Huntington disease (HD), there are conflicting reports that the late-onset form is inherited...
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
Frydman, M, Bonné-Tamir, B, Farrer, L A, Conneally, P M, Magazanik, A, Ashbel, S, ...
Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a...
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
DeStefano, A L, Baldwin, C T, Burzstyn, M, Gavras, I, Handy, D E, Joost, O, ...
Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a...
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
Farrer, L A, Cupples, L A, Wiater, P, Conneally, P M, Gusella, J F, Myers, R H
We evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent...
Polymorphic microsatellites and Wilson disease (WD)
Stewart, E. A., White, A., Tomfohrde, J., Osborne-Lawrence, S., Prestridge, L., Bonne-Tamir, B., ...
Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the...
Segregation analysis reveals evidence of a major gene for Alzheimer disease.
Farrer, L A, Myers, R H, Connor, L, Cupples, L A, Growdon, J H
In an attempt to resolve the relative influences of major genes, multifactorial heritability, and cohort effects on the susceptibility to Alzheimer disease (AD), complex segregation analysis was...
Estimation of morbid risk and age at onset with missing information.
Cupples, L A, Risch, N, Farrer, L A, Myers, R H
Investigators of genetic illnesses are currently employing life-table techniques to estimate the lifetime risk of disease and the age-at-onset distribution. This methodology assumes that onset ages...
Homozygote for Huntington disease.
Myers, R H, Leavitt, J, Farrer, L A, Jagadeesh, J, McFarlane, H, Mastromauro, C A, ...
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95%...
Farrer, L A, Goodfellow, P J, Lamarche, C M, Franjkovic, I, Myers, S, White, B N, ...
Members of four families in which multiple endocrine neoplasia type 2A (MEN-2A) is segregating were typed for seven DNA markers and one red cell enzyme marker on chromosome 13. Close linkage was...
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
Bowcock, A M, Farrer, L A, Cavalli-Sforza, L L, Hebert, J M, Kidd, K K, Frydman, M, ...
Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was...
Farrer, L A, Cupples, L A, Kiely, D K, Conneally, P M, Myers, R H
It is well recognized that age at onset of Huntington disease (HD) is strongly influenced by the sex of the affected parent, and this has lead to suggestions that genetic imprinting or maternal...
Ridley, R M, Farrer, L A, Frith, C D, Conneally, P M
Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive...
A genetic model for age at onset in Huntington disease.
Although numerous investigators have confirmed excess paternal transmission among juvenile-onset cases of Huntington disease (HD), there are conflicting reports that the late-onset form is inherited...
Eight closely linked loci place the Wilson disease locus within 13q14-q21
Bowcock, A. M., Farrer, L. A., Hebert, J. M., Agger, M., Sternlieb, I., Scheinberg, I. H., ...
Wilson disease (WD) is an autosomal recessive disorder resulting in an accumulation of copper in the liver, brain, and other organs. The WD locus (WND) has previously been linked to esterase D (ESD)...
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.
Baldwin, C T, Farrer, L A, Adair, R, Dharmavaram, R, Jimenez, S, Anderson, L
Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which...
Rao, V. S., Cupples, A., Van Duijn, C. M., Kurz, A., Green, R. C., Chui, H., ...
Apolipoprotein E (APOE) genotype is the single most important determinant to the common form of Alzheimer disease (AD) yet identified. Several studies show that family history of AD is not entirely...
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir, B., DeStefano, A. L., Briggs, C. E., Adair, R., Franklyn, B., Weiss, S., ...
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome...
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.
Bowcock, A. M., Tomfohrde, J., Weissenbach, J., Bonne-Tamir, B., Giagheddu, M., ...
Wilson disease (WND) is an autosomal recessive disorder that is due to an inability of the liver to eliminate copper. Copper buildup in the liver, brain, kidney, and other tissues can result in liver...
Estimating the probability for major gene Alzheimer disease.
Alzheimer disease (AD) is neuropsychiatric illness caused by multiple etiologies. Prediction of whether AD is genetically based in a given family is problematic because of censoring bias among...
A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.
Van Duijn, C. M., Hendriks, L., Farrer, L. A., Backhovens, H., Cruts, M., Wehnert, A., ...
Linkage of Alzheimer disease (AD) to DNA markers on chromosomes 14, 19, and 21 was studied in 10 families in which the disease was apparently inherited as an autosomal dominant trait. Families were...
Multiple etiologies for Alzheimer disease are revealed by segregation analysis.
Rao, V. S., Van Duijn, C. M., Connor-Lacke, L., Cupples, L. A., Growdon, J. H., Farrer, L. A.
We have evaluated several transmission models for Alzheimer disease (AD), using the logistic regressive approach in 401 nuclear families of consecutively ascertained and rigorously diagnosed...
Genetic transmission of Alzheimer's disease among families in a Dutch population based study.
Van Duijn, C M, Farrer, L A, Cupples, L A, Hofman, A
We evaluated age at onset and transmission patterns of Alzheimer's disease (AD) in families of 198 patients who had onset of symptoms before the age of 65 years and were diagnosed before the age of...
Ridley, R M, Frith, C D, Farrer, L A, Conneally, P M
The interaction of symptomatology (rigidity/chorea) in Huntington's disease (HD) with age of onset (AO) was examined using data from the Research Roster for Huntington's Disease Patients and...
Twist, E C, Casaubon, L K, Ruttledge, M H, Rao, V S, Macleod, P M, Radvany, J, ...
Machado Joseph disease (MJD) is an autosomal dominantly inherited neuro-degenerative disorder primarily affecting the motor system. It can be divided into three phenotypes based on the variable...
Van Camp, G, Van Thienen, M N, Handig, I, Van Roy, B, Rao, V S, Milunsky, A, ...
Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis...
Considerations in using linkage analysis as a presymptomatic test for Huntington's disease.
Farrer, L A, Myers, R H, Cupples, L A, Conneally, P M
The polymorphic locus D4S10 that is genetically linked to the locus for Huntington's disease (HD) has made possible a presymptomatic test for those at risk. Because the symptoms of this progressively...