Genetic epidemiology of hereditary non-polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis.

abstract：:Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...

journal_title：Annals of human genetics

authors： Shen O,Liu R,Wu W,Yu L,Wang X

更新日期：2012-01-01 00:00:00

abstract：:Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for...

journal_title：Annals of human genetics

authors： Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi O

更新日期：1989-07-01 00:00:00

abstract：:Allelic transmission rates from parents to cases are frequently stratified by an environmental risk factor E and compared, with heterogeneity interpreted as gene-environment interaction or GxE. Though generally invalid, such analyses continue to appear. We revisit why heterogeneity is not equivalent to GxE in a range ...

journal_title：Annals of human genetics

authors： Shin JH,McNeney B,Graham J

更新日期：2010-09-01 00:00:00

abstract：:Typically genetic studies of continuous traits such as cholesterol levels or blood pressure assume that interindividual variability follows a normal distribution. Here we develop methods to analyze positively skewed data by assuming a lognormal distribution. We develop a variance components approach for identifying su...

journal_title：Annals of human genetics

authors： Wan Y,De Andrade M,Yu L,Cohen J,Amos CI

更新日期：1998-11-01 00:00:00

abstract：:Population-based genetic association analysis may suffer from the failure to control for confounders such as population stratification (PS). There has been extensive study on the influence of PS on candidate gene-disease association analysis, but much less attention has been paid to its influence on marker-disease ass...

journal_title：Annals of human genetics

authors： Li T,Li Z,Ying Z,Zhang H

更新日期：2010-07-01 00:00:00

abstract：:CYP2C19, a member of the cytochrome P450 family, metabolises arachidonic acid to produce epoxyeicosanoid acids, which are involved in vascular tone and inflammation. Thus, this study describes the possible relationship between a CYP2C19 polymorphism (681G>A) and three inflammatory markers: interleukin (IL)-6, tumor ne...

journal_title：Annals of human genetics

authors： Bertrand-Thiébault C,Berrahmoune H,Thompson A,Marie B,Droesch S,Siest G,Foernzler D,Visvikis-Siest S

更新日期：2008-03-01 00:00:00

abstract：:An isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequencies GDH1 = 0.723, GDH2 = 0.194, GDH3 = 0.083. Linkage analysis shows that GDH may be closely lin...

journal_title：Annals of human genetics

authors： King J,Cook PJ

更新日期：1981-05-01 00:00:00

abstract：:Dyslexia is a complex gene-environment disorder with poorly understood etiology that affects about 5% of school-age children. Dyslexia occurs in all languages and is associated with a high level of social and psychological morbidity for the individual and their family; approximately 40-50% have persistent disability i...

journal_title：Annals of human genetics

authors： Schulte-Körne G,Ziegler A,Deimel W,Schumacher J,Plume E,Bachmann C,Kleensang A,Propping P,Nöthen MM,Warnke A,Remschmidt H,König IR

更新日期：2007-03-01 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：:We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) ...

journal_title：Annals of human genetics

authors： Costa-Urrutia P,Abud C,Franco-Trecu V,Colistro V,Rodríguez-Arellano ME,Vázquez-Pérez J,Granados J,Seelaender M

更新日期：2017-05-01 00:00:00

abstract：:A theory is given for complex phenotypes represented by an ordered polychotomy separately for affected (as severity) and for normals (as diathesis), with consideration of history, ascertainment, sampling frames, and phenotype systems. Nonrandom selection of probands by severity is permitted. Both probit and logistic m...

journal_title：Annals of human genetics

authors： Morton NE,Shields DC,Collins A

更新日期：1991-10-01 00:00:00

abstract：:The odour threshold bimodality for exaltolide described by Whissell-Buechy & Amoore (1973) among American whites is confirmed for a population sample in London. A highly correlated bimodality presumed to be caused by the absence of inactivity of certain receptor sites is shown to exist for another structurally differe...

journal_title：Annals of human genetics

authors： Kalmus H,Seedburgh D

更新日期：1975-05-01 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：:Data on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non-mosaic 45, X karyotype (XO) and those with an isochromosome of the long arm of the X (iso-X). The numbers were 288 and 84 respectively ...

journal_title：Annals of human genetics

authors： Carothers AD,Frackiewicz A,De Mey R,Collyer S,Polani PE,Osztovics M,Horváth K,Papp Z,May HM,Ferguson-Smith MA

更新日期：1980-05-01 00:00:00

abstract：:We evaluated denaturing high pressure liquid chromatography (DHPLC) as a scanning method for mutation detection in TSC2, and compared it to conformation-sensitive gel electrophoresis (CSGE) and single-stranded conformation polymorphism analysis (SSCP). The first 20 exons of TSC2 were amplified from 84 TSC patients and...

journal_title：Annals of human genetics

authors： Choy YS,Dabora SL,Hall F,Ramesh V,Niida Y,Franz D,Kasprzyk-Obara J,Reeve MP,Kwiatkowski DJ

更新日期：1999-09-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated ...

journal_title：Annals of human genetics

authors： Bastaki F,Bizzari S,Hamici S,Nair P,Mohamed M,Saif F,Malik EM,Al-Ali MT,Hamzeh AR

更新日期：2018-01-01 00:00:00

abstract：:Using in situ hybridization, c-erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46,XX, t(15;17)(q22;q11). Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promy...

journal_title：Annals of human genetics

authors： Sheer D,Sheppard DM,le Beau M,Rowley JD,San Roman C,Solomon E

更新日期：1985-07-01 00:00:00

abstract：:In order to describe the isonymic structure of Paraguay, the distribution of 4,843,868 surnames of 2,882,163 persons was studied in the 18 departments and 237 districts of the nation. The correlations between isonymic and geographic distances for departments were r = 0.713 ± 0.052 for Euclidean distance, 0.597 ± 0.074...

journal_title：Annals of human genetics

authors： Dipierri J,Rodriguez-Larralde A,Alfaro E,Scapoli C,Mamolini E,Salvatorelli G,Caramori G,De Lorenzi S,Sandri M,Carrieri A,Barrai I

更新日期：2011-11-01 00:00:00

abstract：:Estimating haplotype relative risks in a family-based study is complicated by phase ambiguity and the many parameters needed to quantify relative risks for all possible diplotypes. This problem becomes manageable if a particular haplotype has been implicated previously as relevant to risk. We fit log-linear models to ...

journal_title：Annals of human genetics

authors： Shi M,Umbach DM,Weinberg CR

更新日期：2009-05-01 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：:The problem of ordering and mapping genes on the basis of recombinant data and radiation hybrid data is formulated as a problem of Bayesian inference for an unknown permutation. The challenging computational problems posed by this approach are shown to be resolvable using Markov chain Monte Carlo methods. ...

journal_title：Annals of human genetics

authors： Stephens DA,Smith AF

更新日期：1993-01-01 00:00:00

abstract：:Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

journal_title：Annals of human genetics

authors： Claus EB,Risch NJ,Thompson WD

更新日期：1990-05-01 00:00:00

abstract：:Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, deve...

journal_title：Annals of human genetics

authors： Lee JY,Cho YH,Hallford G

更新日期：2011-11-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of...

journal_title：Annals of human genetics

authors： Al-Ahmad MM,Amir N,Dhanasekaran S,John A,Abdulrazzaq YM,Ali BR,Bastaki S

更新日期：2017-09-01 00:00:00

abstract：:Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger seque...

journal_title：Annals of human genetics

authors： Mészárosová AU,Grečmalová D,Brázdilová M,Dvořáčková N,Kalina Z,Čermáková M,Vávrová D,Smetanová I,Staněk D,Seeman P

更新日期：2017-11-01 00:00:00

abstract：:We describe a novel method for analysis of marker genotype data from admixed populations, based on a hybrid of Bayesian and frequentist approaches in which the posterior distribution is generated by Markov chain simulation and score tests are obtained from the missing-data likelihood. We analysed data on unrelated ind...

journal_title：Annals of human genetics

authors： McKeigue PM,Carpenter JR,Parra EJ,Shriver MD

更新日期：2000-03-01 00:00:00

abstract：:Traditional quantitative trait locus (QTL) analysis focuses on identifying loci associated with mean heterogeneity. Recent research has discovered loci associated with phenotype variance heterogeneity (vQTL), which is important in studying genetic association with complex traits, especially for identifying gene-gene a...

journal_title：Annals of human genetics

authors： Cao Y,Maxwell TJ,Wei P

更新日期：2015-01-01 00:00:00

abstract：:Decreased function of the melanocortin-4 receptor (MC4R) was reported to cause late-onset obesity and insulin resistance in rodents. Thus mutations in the MC4R gene drew strong attention as a possible cause of obesity and diabetes. We screened for mutations in the MC4R gene in extremely obese [body mass index (BMI) > ...

journal_title：Annals of human genetics

authors： Ohshiro Y,Sanke T,Ueda K,Shimajiri Y,Nakagawa T,Tsunoda K,Nishi M,Sasaki H,Takasu N,Nanjo K

更新日期：1999-11-01 00:00:00

abstract：BACKGROUND:The association between interleukin-10 (IL-10)-1082 (-1087) A > G polymorphism and either chronic (CP) or aggressive periodontitis (AgP) susceptibility was conflicting. This meta-analysis aimed to quantitatively estimate the association. METHODS:Pubmed, Embase, Web of Science, and WANFAN databases were sear...

journal_title：Annals of human genetics

authors： Li Y,Hu B,Feng G,Chen Q,Zhu M,Ying S,Song J

更新日期：2019-09-01 00:00:00