Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis.

abstract：:1. Further investigation of fumarase using lymphoblastoid cells derived from an individual of the FH 2--1 phenotype has confirmed that the mitochondrial (FHM) and soluble (FHS) forms of fumarase are determined at the same structural locus. 2. The FH 2--1 variant is associated with enzyme deficiency: c. 70% of normal i...

journal_title：Annals of human genetics

authors： Edwards YH,Hopkinson DA

更新日期：1979-10-01 00:00:00

abstract：INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...

journal_title：Annals of human genetics

authors： Alsubaie L,Aloraini T,Amoudi M,Swaid A,Eyiad W,Al Mutairi F,Ababneh F,Alrifai MT,Baarmah D,Altwaijri W,Alotaibi N,Harthi A,Rumayyan A,Alanazi A,Qrimli M,Alfadhel M,Alfares A

更新日期：2020-11-01 00:00:00

abstract：:Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...

journal_title：Annals of human genetics

authors： Abdullah KG,Li L,Shen GQ,Hu Y,Yang Y,MacKinlay KG,Topol EJ,Wang QK

更新日期：2008-09-01 00:00:00

abstract：:A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

journal_title：Annals of human genetics

authors： Nikolova M

更新日期：1996-11-01 00:00:00

abstract：:The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...

journal_title：Annals of human genetics

authors： Xuan C,Lun LM,Zhao JX,Wang HW,Zhu BZ,Yu S,Liu Z,He GW

更新日期：2013-05-01 00:00:00

abstract：:Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...

journal_title：Annals of human genetics

authors： Ma D,Salyakina D,Jaworski JM,Konidari I,Whitehead PL,Andersen AN,Hoffman JD,Slifer SH,Hedges DJ,Cukier HN,Griswold AJ,McCauley JL,Beecham GW,Wright HH,Abramson RK,Martin ER,Hussman JP,Gilbert JR,Cuccaro ML,Haines JL

更新日期：2009-05-01 00:00:00

abstract：:Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...

journal_title：Annals of human genetics

authors： Levran O,Randesi M,Li Y,Rotrosen J,Ott J,Adelson M,Kreek MJ

更新日期：2014-07-01 00:00:00

abstract：:We have used the HLA-DQB1 gene as a Southern hybridization probe with TaqI-digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA-DQB1 RFLP patterns associated with the DR specificities DR1-DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have a...

journal_title：Annals of human genetics

authors： Gogolin KJ,Kolaga VJ,Baker L,Lisak RP,Zmijewski CM,Spielman RS

更新日期：1989-10-01 00:00:00

abstract：:The Regression of Offspring on Mid-Parent (ROMP) method is a test of association between a quantitative trait and a candidate locus. ROMP estimates the trait heritability and the heritability attributable to a locus and requires genotyping the offspring only. In this study, the theory underlying ROMP was revised (ROMP...

journal_title：Annals of human genetics

authors： Roy-Gagnon MH,Mathias RA,Fallin MD,Jee SH,Broman KW,Wilson AF

更新日期：2008-01-01 00:00:00

abstract：:In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations...

journal_title：Annals of human genetics

authors： Zlotogora J,Hujerat Y,Barges S,Shalev SA,Chakravarti A

更新日期：2007-03-01 00:00:00

abstract：:The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic environmental and occupational factors. Recently, special attention has been directed to the identification of sources of potenti...

journal_title：Annals of human genetics

authors： Hoyos-Giraldo LS,Escobar-Hoyos LF,Reyes-Carvajal I,García JJ,Córdoba L,Gómez AS,García-Vallejo F,Cajas-Salazar N,Carvajal S,Bedoya G

更新日期：2013-07-01 00:00:00

abstract：:Exact probability and likelihood computation on complex pedigrees is often infeasible, since exact methods are too computationally intensive even with today's computing technology. A statistical tool, Markov chain Monte Carlo (MCMC), is increasingly being explored as a technique for estimating probabilities of genotyp...

journal_title：Annals of human genetics

authors： Lin S,Thompson E,Wijsman E

更新日期：1994-10-01 00:00:00

abstract：:This paper reconsiders the relevant contribution of Sasieni in the validity of allele-based tests in case-control genetic association studies. In particular, the author clearly demonstrates that the classical chi-square test applied to allelic contingency tables is biased when the combined case-control population is n...

journal_title：Annals of human genetics

authors： Guedj M,Nuel G,Prum B

更新日期：2008-05-01 00:00:00

abstract：:Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the d...

journal_title：Annals of human genetics

authors： Teisberg P,Gjone E,Olaisen B

更新日期：1975-01-01 00:00:00

abstract：:The segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma-human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when...

journal_title：Annals of human genetics

authors： Astrin KH,Arredondo-Vega FX,Desnick RJ,Smith M

更新日期：1982-05-01 00:00:00

abstract：:The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of t...

journal_title：Annals of human genetics

authors： Van der Ploeg AT,Kroos MA,Swallow DM,Reuser AJ

更新日期：1989-05-01 00:00:00

abstract：:The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...

journal_title：Annals of human genetics

authors： Wan Y,Cohen J,Guerra R

更新日期：1997-01-01 00:00:00

abstract：:The genomic DNA-probe L2.30 was used to assign D2S1 to 2p23-pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo-NHIK families segregating for the acid phosphatase ACP1 protein polymorphism. Evidence for very close linkage was found by a lod score of +17.17 at recombi...

journal_title：Annals of human genetics

authors： Lothe RA,Gedde-Dahl T,Olaisen B,Bakker E,Pearson P

更新日期：1986-10-01 00:00:00

abstract：:1. The use of SDS electrophoresis as a tool for the analysis of development processes in man has been evaluated. 2. The protein profiles of cardiac and skeletal muscle from foetal (10--24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the...

journal_title：Annals of human genetics

authors： Tipler TD,Edwards YH,Hopkinson DA

更新日期：1978-05-01 00:00:00

abstract：:Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...

journal_title：Annals of human genetics

authors： Turner VS,Hopkinson DA

更新日期：1981-05-01 00:00:00

abstract：:We report data on diagnoses made on amniotic fluid specimens from 1977 to 1984 as reported to the New York State Chromosome Registry. The rate of all de novo (presumed mutant) abnormalities was about 2 per 1,000 in about 61,000 fetuses in which results are unlikely to be biased by the reason for amniocentesis (except ...

journal_title：Annals of human genetics

authors： Hook EB,Cross PK

更新日期：1987-01-01 00:00:00

abstract：:Specific language impairment (SLI) is defined as an inability to develop appropriate language skills without explanatory medical conditions, low intelligence or lack of opportunity. Previously, a genome scan of 98 families affected by SLI was completed by the SLI Consortium, resulting in the identification of two quan...

journal_title：Annals of human genetics

authors： Monaco AP

更新日期：2007-09-01 00:00:00

abstract：:It has been shown that parametric analysis of linkage disequilibrium conditional on linkage using an overly deterministic model can be optimal for family-based association analysis. However, if one applies this strategy carelessly, there is a risk of false inference. We analyse properties of such likelihood ratio test...

journal_title：Annals of human genetics

authors： Hiekkalinna T,Göring HH,Terwilliger JD

更新日期：2012-01-01 00:00:00

abstract：:It has been suggested that an X-linked dominant allele operates in the genetic transmission of bipolar (manic-depressive) illness. Linkage studies with X-chromosome markers have remained inconclusive, showing both positive and negative results. Some of the ambiguity may be attributed to imprecise analytic methods and ...

journal_title：Annals of human genetics

authors： Risch N,Baron M

更新日期：1982-05-01 00:00:00

abstract：:Haplotype analysis is important for mapping traits. Recently, methods for estimating haplotype frequencies from genotypes of unrelated individuals based on the expectation-maximization (EM) algorithm have been developed. Our program estimates haplotype frequencies in the population and determines the posterior probabi...

journal_title：Annals of human genetics

authors： Kitamura Y,Moriguchi M,Kaneko H,Morisaki H,Morisaki T,Toyama K,Kamatani N

更新日期：2002-05-01 00:00:00

abstract：:1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurr...

journal_title：Annals of human genetics

authors： Jeremiah S,Povey S

更新日期：1981-07-01 00:00:00

abstract：:Using the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, theta, which itself has a probability distribution between the limit...

journal_title：Annals of human genetics

authors： Renwick JH

更新日期：1990-10-01 00:00:00

abstract：:In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP-CEPH Genome Diversity Panel and reported that the populations were structured into five geographical regions: America, Sub-Saharan Africa, East Asia, Oceania and a cluster composed of Europe, the Middle Eas...

journal_title：Annals of human genetics

authors： Bastos-Rodrigues L,Pimenta JR,Pena SD

更新日期：2006-09-01 00:00:00

abstract：:The polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5-10). Skewness and kurtosis of th...

journal_title：Annals of human genetics

authors： Kendler KS,Kidd KK

更新日期：1986-01-01 00:00:00

abstract：:Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) v...

journal_title：Annals of human genetics

authors： Shahid SU,Shabana.,Rehman A

更新日期：2017-07-01 00:00:00