听力与言语-语言病理学

行为科学

医学伦理学

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  • Bayesian linkage and segregation analysis: factoring the problem.

    abstract::Complex segregation analysis and linkage methods are mathematical techniques for the genetic dissection of complex diseases. They are used to delineate complex modes of familial transmission and to localize putative disease susceptibility loci to specific chromosomal locations. The computational problem of Bayesian li...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/1098-2272(2000)19:1+<::AID-GEPI8>3.0.CO;2-

    authors: Matthysse S

    更新日期:2000-01-01 00:00:00

  • Familial aggregation of breast cancer with early onset lung cancer.

    abstract::Site-specific familial aggregation and evidence supporting Mendelian codominant inheritance have been shown in lung cancer. In characterizing lung cancer families, a number of other cancers have been observed. The current study evaluates whether first-degree relatives of early onset lung cancer cases are at increased ...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章

    doi:10.1002/(SICI)1098-2272(199911)17:4<274::AID-GEPI3

    authors: Schwartz AG,Siegfried JM,Weiss L

    更新日期:1999-11-01 00:00:00

  • Linkage analysis of candidate obesity genes among the Mexican-American population of Starr County, Texas.

    abstract::Recent advances in the molecular basis of body fat regulation have identified several genes in which genetic variation may influence obesity and related measures in human populations. Genes that have been shown to have a regulatory function in the control of body fat utilization, eating behavior, and/or metabolic rate...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1999)16:4<397::AID-GEPI6>3

    authors: Bray MS,Boerwinkle E,Hanis CL

    更新日期:1999-01-01 00:00:00

  • Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings.

    abstract::The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses. Excluding the latt...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1999)16:2<179::AID-GEPI5>3

    authors: Carothers AD,Boyd E,Lowther G,Ellis PM,Couzin DA,Faed MJ,Robb A

    更新日期:1999-01-01 00:00:00

  • Using case-control designs for genome-wide screening for associations between genetic markers and disease susceptibility loci.

    abstract::We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every mark...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.13701707128

    authors: Yang Q,Khoury MJ,Atkinson M,Sun F,Cheng R,Flanders WD

    更新日期:1999-01-01 00:00:00

  • Detecting interactions between gene, site, and environmental variables using GAP.

    abstract::Regressive models that incorporate measured variables and assumed genetic parameters were used to detect interactions between gene, research site, and environmental variables in GAW11 Problem 2. Replicates 1 to 5 were used in the analyses. Significant three-way gene x environment x site interactions were seen for all ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.13701707118

    authors: Shin J,Corey M

    更新日期:1999-01-01 00:00:00

  • Generalization of the extended transmission disequilibrium test to two unlinked disease loci.

    abstract::The extended transmission disequilibrium test (ETDT) of Sham and Curtis [1995] is a powerful test of the null hypothesis of no linkage between a multi-allelic marker locus and a disease susceptibility locus of unknown location in the presence of association between alleles at the two loci. We propose a generalization ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.13701707108

    authors: Morris A,Whittaker J

    更新日期:1999-01-01 00:00:00

  • Meta-analysis by combining p-values: simulated linkage studies.

    abstract::Meta-analysis has been little explored to make an overall assessment of linkage from different studies. In practice, it is likely that published linkage studies will only report p-values. We compared the performance of the widely used Fisher method for combining p-values with that of pooling raw data. More loci were c...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,meta分析

    doi:10.1002/gepi.1370170798

    authors: Guerra R,Etzel CJ,Goldstein DR,Sain SR

    更新日期:1999-01-01 00:00:00

  • Genetic analysis of a complex disease in the presence of an environmental risk factor.

    abstract::The role of a gene in a disease may be hidden by the presence of another risk factor such as an environmental factor. In that case, stratifying the data according to this factor strengthens power to detect linkage or association. We followed this strategy on the simulated data provided by GAW11. The transmission/diseq...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170788

    authors: Eichenbaum-Voline S,Baur MP,Knapp M

    更新日期:1999-01-01 00:00:00

  • Meta-analysis of linkage studies.

    abstract::Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170778

    authors: Badner JA,Goldin LR

    更新日期:1999-01-01 00:00:00

  • Linkage analysis in alcohol dependence.

    abstract::Alcohol dependence often is a familial disorder and has a genetic component. Research in causative factors of alcoholism is coordinated by a multi-center program, COGA [The Collaborative Study on the Genetics of Alcoholism, Begleiter et al., 1995]. We analyzed a subset of the COGA family sample, 84 pedigrees of Caucas...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170768

    authors: Windemuth C,Hahn A,Strauch K,Baur MP,Wienker TF

    更新日期:1999-01-01 00:00:00

  • Association and linkage analysis of ICD-10 diagnosis for alcoholism.

    abstract::We analyzed the GAW11 data on alcoholism provided by the Collaborative Study on the Genetics of Alcoholism (COGA) using an extension of a new test of linkage and association for quantitative traits developed by George et al. [1999]. This method determines linkage between marker loci and quantitative traits, when allel...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170758

    authors: Tiwari HK,Zhu X,Elston RC,Shu Y,George V

    更新日期:1999-01-01 00:00:00

  • Genome-wide linkage analysis using genetic variance components of alcohol dependency-associated censored and continuous traits.

    abstract::We used variance-components analysis to investigate the additive genetic effects regulating some of the phenotypes included in the GAW11 data set. Variance-components models were fitted using Gibbs sampling methods in BUGS v 0.6. Linkage analyses for both multivariate normal (MvN) traits and right censored survival ti...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170748

    authors: Palmer LJ,Tiller KJ,Burton PR

    更新日期:1999-01-01 00:00:00

  • Design of artificial neural network and its applications to the analysis of alcoholism data.

    abstract::Artificial neural networks were applied to the alcoholism data to reveal nonlinear relationships between intermediate phenotypes, marker identity-by-descent sharing, and the affection status. A variable number of hidden units were considered to achieve a balance between the minimal mean-squared error and over-fitting ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170738

    authors: Li W,Haghighi F,Falk CT

    更新日期:1999-01-01 00:00:00

  • Constructing meiotic maps with known error probability.

    abstract::We propose methods to construct meiotic gene maps while controlling the probability of a decision-error. First, a single step gene ordering procedure is presented whose decision-error probability is bounded above by a prespecified threshold. The bound for the error probability is valid under quite general circumstance...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1999)16:3<274::AID-GEPI4>3

    authors: Rogatko A,Babb J,Jordan H,Zacks S

    更新日期:1999-01-01 00:00:00

  • Comparison of two linkage inference procedures for genes related to the P300 component of the event related potential.

    abstract::Our goal was to detect genes contributing to the P300 component of the event related potential (ERP). We found that all of the ERP traits were highly correlated. Most of them distinguished alcoholics from nonalcoholics. To have one summary variable for the ERP traits, we calculated the first principal component (PRIN1...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170728

    authors: Goldin LR,Chase GA

    更新日期:1999-01-01 00:00:00

  • Comparison of empirical strategies to maximize GENEHUNTER lod scores.

    abstract::We compare four strategies for finding the settings of genetic parameters that maximize the lod scores reported in GENEHUNTER 1.2. The four strategies are iterated complete factorial designs, iterated orthogonal Latin hypercubes, evolutionary operation, and numerical optimization. The genetic parameters that are set a...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170718

    authors: Chen CH,Finch SJ,Mendell NR,Gordon D

    更新日期:1999-01-01 00:00:00

  • Mapping alcoholism genes using linkage/linkage disequilibrium analysis.

    abstract::Using a recently developed semiparametric method for combined linkage/linkage-disequilibrium analysis, we analyzed the Collaborative Study on the Genetics of Alcoholism data subset developed for Genetic Analysis Workshop 11 (GAW11). This semiparametric approach estimates recombination fractions for linkage, marker log...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170708

    authors: Aragaki C,Quiaoit F,Hsu L,Zhao LP

    更新日期:1999-01-01 00:00:00

  • Major genetic effects on airway-parenchymal dysanapsis of the lung: the Humboldt family study.

    abstract::We examined familial resemblance and performed segregation analysis for the maximal expiratory flow rate at 50% of vital capacity (Vmax50) and the ratio of Vmax50 to forced vital capacity (FVC), based on data from 309 nuclear families with 1,045 individuals in the town of Humboldt, Saskatchewan, in 1993. Vmax50 is con...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1999)16:1<95::AID-GEPI8>3.

    authors: Chen Y,Dosman JA,Rennie DC,Lockinger LA

    更新日期:1999-01-01 00:00:00

  • Parental genotype reconstruction: applications of haplotype relative risk to incomplete parental data.

    abstract::Intended to resolve the problem of constructing a matched population-based control sample, haplotype relative risk techniques frequently suffer from loss of power for late-onset diseases due to unavailability of parental genotypes that are required to form parent-offspring pairs. However, much of this missing informat...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:5<471::AID-GEPI3>3

    authors: Martin RB,Alda M,MacLean CJ

    更新日期:1998-01-01 00:00:00

  • National database of familial cancer in Sweden.

    abstract::A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:3<225::AID-GEPI2>3

    authors: Hemminki K,Vaittinen P

    更新日期:1998-01-01 00:00:00

  • APO B 3' HVR polymorphism in healthy population: relationships to serum lipid levels.

    abstract::We have analyzed allele frequency distribution at the hypervariable locus 3' to the apolipoprotein B gene in a healthy population sample (241 women and 246 men) from the Belgrade area. The bimodal distribution of sixteen different hypervariable region (HVR) alleles and the heterozygosity index (average 0.76) in both s...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:2<113::AID-GEPI1>3

    authors: Alavantić D,Glisić S,Kandić I

    更新日期:1998-01-01 00:00:00

  • Sample size calculations for linkage analysis using extreme sib pairs based on segregation analysis with the quantitative phenotype body weight as an example.

    abstract::One approach to establish linkage is based on allele-sharing methods for sib pairs. Recently, the use of extreme sib pairs (ESP) has been proposed to increase power for mapping quantitative traits in humans. Several approaches have been discussed. In this study, we calculate sample sizes for the various ESP approaches...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:6<577::AID-GEPI3>3

    authors: Ziegler A,Hebebrand J

    更新日期:1998-01-01 00:00:00

  • Modelling the major histocompatibility complex susceptibility to RA using the MASC method.

    abstract::To explain the association between HLA-DRB1 gene and rheumatoid arthritis (RA), two main hypotheses have been proposed. The first, the shared epitope hypothesis, assumes a direct role of DRB1 in RA susceptibility. The second hypothesis assumes a recessive disease susceptibility gene in linkage disequilibrium with DRB1...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:4<419::AID-GEPI7>3

    authors: Génin E,Babron MC,McDermott MF,Mulcahy B,Waldron-Lynch F,Adams C,Clegg DO,Ward RH,Shanahan F,Molloy MG,O'Gara F,Clerget-Darpoux F

    更新日期:1998-01-01 00:00:00

  • Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study.

    abstract::Jewish women have been reported to have a higher risk for familial breast cancer than non-Jewish women and to be more likely to carry mutations in breast cancer genes such as BRCA1. Because BRCA1 mutations also increase women's risk for ovarian cancer, we asked whether Jewish women are at higher risk for familial ovar...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/(SICI)1098-2272(1998)15:1<51::AID-GEPI4>3.

    authors: Steinberg KK,Pernarelli JM,Marcus M,Khoury MJ,Schildkraut JM,Marchbanks PA

    更新日期:1998-01-01 00:00:00

  • Population-based family study designs: an interdisciplinary research framework for genetic epidemiology.

    abstract::Most complex traits such as cancer and coronary heart diseases are attributed either to heritable factors or to environmental factors or to both. Dissecting the genetic and environmental etiology of complex traits thus requires an interdisciplinary research strategy. Genetic studies generally involve families and inve...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,评审

    doi:10.1002/(SICI)1098-2272(1997)14:4<365::AID-GEPI3>3

    authors: Zhao LP,Hsu L,Davidov O,Potter J,Elston RC,Prentice RL

    更新日期:1997-01-01 00:00:00

  • Apolipoprotein E phenotype, arterial disease, and mortality among older women: the study of osteoporotic fractures.

    abstract::This study is an investigation of the relationship between apolipoprotein E (apoE) phenotype, arterial disease, and mortality in a group of women (n = 1,751) aged 65 years and older enrolled in the Study of Osteoporotic Fractures. Crude mortality rates were highest among women with the 4-3 and 4-4 phenotypes but age-a...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/(SICI)1098-2272(1997)14:2<147::AID-GEPI4>3

    authors: Vogt MT,Cauley JA,Kuller LH

    更新日期:1997-01-01 00:00:00

  • Segregation analysis of cardiovascular reactivity to laboratory stressors.

    abstract::To better understand the contribution of major gene influences to individual differences in cardiovascular reactivity, we performed a segregation analysis on blood pressure responses to two laboratory tasks, mental arithmetic and bicycle exercise. The study population consisted of 1,451 adults (age > or = 18 years) wh...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:1<35::AID-GEPI3>3.

    authors: Cheng LS,Carmelli D,Hunt SC,Williams RR

    更新日期:1997-01-01 00:00:00

  • Regressive logistic modeling of familial aggregation for asthma in 7,394 population-based nuclear families.

    abstract::The aim of this population-based study was to determine whether asthma aggregates in families, and if so, whether aggregation was consistent with environmental and/or genetic etiologies. Data were from 7,394 nuclear families (41,506 individuals) from the 1968 Tasmanian Asthma Survey, in which all Tasmanian schoolchild...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:3<317::AID-GEPI9>3

    authors: Jenkins MA,Hopper JL,Giles GG

    更新日期:1997-01-01 00:00:00

  • Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance.

    abstract::Complex traits have been modeled under various modes of two-locus inheritance. One example of a two-locus threshold model is the situation where an individual is susceptible to a disease trait if he or she carries three or more disease alleles. Under this model, if each locus is examined individually the inheritance a...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/(SICI)1098-2272(1997)14:6<1097::AID-GEPI89

    authors: Leal SM,Ott J

    更新日期:1997-01-01 00:00:00

  • Testing the utility of mod scores and sib-pair analysis to detect presence of disease susceptibility loci.

    abstract::Linkage analyses and association studies were employed to detect disease susceptibility loci leading to elevated Q1 levels in Problem 2B. Phenotypes were defined to be the dichotomous affection status, the quantitative value for Q1, and Q1 adjusted for covariates. The method of mod-scores (for the dichotomous phenotyp...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<1035::AID-GEPI79

    authors: Neuman RJ,Xian H

    更新日期:1997-01-01 00:00:00

  • Exploiting pleiotropy to map genes for oligogenic phenotypes using extended pedigree data.

    abstract::We investigated the utility of two approaches for exploiting pleiotropy to search for genes influencing related traits. To do this we first assessed the genetic correlations among a set of five closely related quantitative traits (Q1, Q2, Q3, Q4, Q5). We then used the genetic correlations among these five traits both ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<975::AID-GEPI69>

    authors: Comuzzie AG,Mahaney MC,Almasy L,Dyer TD,Blangero J

    更新日期:1997-01-01 00:00:00

  • Haplotype sharing analysis in affected individuals from nuclear families with at least one affected offspring.

    abstract::In diseases with a complex mode of inheritance, families with multiple affected individuals are difficult to ascertain. The haplotype sharing statistic (HSS) uses (hidden) co-ancestry between affected individuals from a founder population. These affected individuals will likely not only share the same mutation(s), but...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<915::AID-GEPI59>

    authors: Van der Meulen MA,te Meerman GJ

    更新日期:1997-01-01 00:00:00

  • Logistic transmission modeling for the simulated data of GAW10 problem 2.

    abstract::A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chrom...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<857::AID-GEPI49>

    authors: Neas BR,Moser KL,Harley JB

    更新日期:1997-01-01 00:00:00

  • The power of iterated generalized least squares (GLS) method to detect direct relationships in the analysis of correlated quantitative traits.

    abstract::We examined the power of the stepwise iterated generalized least squares (GLS) method by modeling the relationship between quantitative traits and other variables using the simulated data for Problem 2A. The comparison between the generating model provided by the workshop and the results of the stepwise iterated GLS m...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<797::AID-GEPI39>

    authors: He Q,Nemesure BB,Mendell NR

    更新日期:1997-01-01 00:00:00

  • GAW10: simulated family data for a common oligogenic disease with quantitative risk factors.

    abstract::GAW10 Problem 2 involves a simulated common disease defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > or = T (where T = 40) is defined as affected. Also thought to be associated with the disease as intervening variables are four other quantitative traits (Q2, Q3, Q4...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<737::AID-GEPI29>

    authors: MacCluer JW,Blangero J,Dyer TD,Speer MC

    更新日期:1997-01-01 00:00:00

  • Parental transmission and D18S37 allele sharing in bipolar affective disorder.

    abstract::We combined the five chromosome 18 bipolar affective disorder data sets provided by GAW10, totaling 185 families with 3,394 individuals, and performed analysis of differential parental transmission and chromosome 18 marker allele sharing in families with transmission through fathers vs those through mothers. Results i...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<665::AID-GEPI19>

    authors: Lin JP,Bale SJ

    更新日期:1997-01-01 00:00:00

  • Analysis of bipolar disorder using affected relatives.

    abstract::We have analyzed the GAW10 data from several studies of bipolar affective disorder (BPAD) using the software packages SimIBD and SIMWALK2. SimIBD implements a simulation-based affected-pedigree-member (APM) statistic, called SimAPM, as well as an APM-like statistic, also called SimIBD, that measures identical-by-desce...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<605::AID-GEPI9>3

    authors: Davis S,Sobel E,Marinov M,Weeks DE

    更新日期:1997-01-01 00:00:00

  • Univariate analysis of dichotomous or ordinal data from twin pairs: a simulation study comparing structural equation modeling and logistic regression.

    abstract::The univariate analysis of categorical twin data can be performed using either structural equation modeling (SEM) or logistic regression. This paper presents a comparison between these two methods using a simulation study. Dichotomous and ordinal (three category) twin data are simulated under two different sample size...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1996)13:1<79::AID-GEPI7>3.

    authors: Ramakrishnan V,Meyer JM,Goldberg J,Henderson WG

    更新日期:1996-01-01 00:00:00

  • Apolipoprotein E-epsilon 4 allele and familial risk in Alzheimer's disease.

    abstract::Recent studies have found an association between presence of apolipoprotein E (APOE) epsilon 4 allele and Alzheimer's disease (AD). The present study compared the cumulative risk of primary progressive dementia (PPD) in relatives of AD probands carrying at least one copy of the epsilon 4 allele with the relatives of A...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1996)13:3<285::AID-GEPI5>3

    authors: Li G,Silverman JM,Altstiel LD,Haroutunian V,Perl DP,Purohit D,Birstein S,Lantz M,Mohs RC,Davis KL

    更新日期:1996-01-01 00:00:00

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