Multivariate linkage analysis of specific language impairment (SLI).

abstract：:Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

journal_title：Annals of human genetics

authors： Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

更新日期：2011-09-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 00:00:00

abstract：:An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

journal_title：Annals of human genetics

authors： Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

更新日期：1985-10-01 00:00:00

abstract：:Population samples from Liguria, Piacenza and Pavia provinces, and North Lombardy are compared for surnames and HLA gene frequencies. The genetic structure inferred from the principal coordinate analysis of surname frequencies is different from that inferred from HLA gene frequencies. The latter may represent ancient ...

journal_title：Annals of human genetics

authors： Guglielmino CR,De Silvestri A,Rossi A,De Micheli V

更新日期：1998-05-01 00:00:00

abstract：:The results of a chromosome survey of 3993 liveborn infants, the majority of which have been studied using G-banding, are reported. The frequency of all types of chromosome abnormalities detected was similar to that found in previous newborn surveys, which were carried out on different socio-economic structure, but th...

journal_title：Annals of human genetics

authors： Buckton KE,O'Riordan ML,Ratcliffe S,Slight J,Mitchell M,McBeath S,Keay AJ,Barr D,Short M

更新日期：1980-01-01 00:00:00

abstract：:The Samaritan community is a small, isolated, and highly endogamous group numbering some 650 members who have maintained extensive genealogical records for the past 13-15 generations. We performed mutation detection experiments on mitochondrial DNAs and Y chromosomes from confirmed maternal and paternal lineages to es...

journal_title：Annals of human genetics

authors： Bonné-Tamir B,Korostishevsky M,Redd AJ,Pel-Or Y,Kaplan ME,Hammer MF

更新日期：2003-03-01 00:00:00

abstract：:We determine the power of variance component linkage analysis in the case of discrete, dichotomous traits analyzed under a classical liability threshold model. For simplicity we consider randomly ascertained samples and an additive model of variation incorporating a qtl, residual additive genetic factors, and individu...

journal_title：Annals of human genetics

authors： Williams JT,Blangero J

更新日期：2004-11-01 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：:Recursively computed descent probabilities provide an effective way to evaluate possible ancestries of rare alleles segregating in large and complex genealogies, but they ignore information other than the descent to a small set of current gene copies. We show how descent probability computations can be modified to inc...

journal_title：Annals of human genetics

authors： Thompson EA,Morgan K

更新日期：1989-10-01 00:00:00

abstract：:We have determined the chromosomal location of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) to the short arm of chromosome 3 using somatic cell hybrids. PCR-based analysis of a 'monochromosomal' hybrid panel identified the presence of the TNNC1 gene on human chromosome 3 and subsequent analysis of th...

journal_title：Annals of human genetics

authors： Townsend PJ,Yacoub MH,Barton PJ

更新日期：1997-07-01 00:00:00

abstract：:The segregation of human phosphoglycolate phosphatase has been studied in 52 independent human-rodent hybrids and 69 subclones. The results suggest that human PGP is on chromosome 16. Family data suggest that PGP is not close to 16qh or alpha Hp. The most likely regional assignment for PGP would appear to be 16p13 or ...

journal_title：Annals of human genetics

authors： Povey S,Jeremiah SJ,Barker RF,Hopkinson DA,Robson EB,Cook PJ,Solomon E,Bobrow M,Carritt B,Buckton KE

更新日期：1980-01-01 00:00:00

abstract：:In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a larg...

journal_title：Annals of human genetics

authors： Guilherme JPLF,Bertuzzi R,Lima-Silva AE,Pereira ADC,Lancha Junior AH

更新日期：2018-09-01 00:00:00

abstract：:Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole exome sequencing may enable efficient analysis for locus heterogeneous disorders such as PCD. We whole-exome-sequenced one consanguineous Saudi Arabian with clinically di...

journal_title：Annals of human genetics

authors： Alsaadi MM,Gaunt TR,Boustred CR,Guthrie PA,Liu X,Lenzi L,Rainbow L,Hall N,Alharbi KK,Day IN

更新日期：2012-05-01 00:00:00

abstract：:Apparently identical twin boys are both XX/XY and have two populations, A1 and B, of cells in their peripheral blood. Chimerism in somatic tissue outside the blood cells can be demonstrated in only one of the twins. From analysis of chromosomes and many gene markers the mechanism of origin of the unusual twins remains...

journal_title：Annals of human genetics

authors： Iselius L,Lambert B,Lindsten J,Tippett P,Gavin J,Daniels G,Yates A,Ritzén M,Sandstedt B

更新日期：1979-10-01 00:00:00

abstract：:Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

journal_title：Annals of human genetics

authors： Li F,Yuan W,Wu X

更新日期：2018-11-01 00:00:00

abstract：OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...

journal_title：Annals of human genetics

authors： Alaee E,Mirahmadi M,Ghasemi M,Kashani E,Attar M,Shahbazi M

更新日期：2019-11-01 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：:Measurements have been carried out on the gonads of 54 human foetuses, 29 males and 25 females. Crown-rump lengths ranged between 140 and 212 mm. The criteria used were fresh weight, total protein contents and total DNA contents. It was found that for any given crown-rump length class, the mean values of testes exceed...

journal_title：Annals of human genetics

authors： Mittwoch U

更新日期：1976-07-01 00:00:00

abstract：:Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...

journal_title：Annals of human genetics

authors： Beverstock GC,Mol A,Wienhofer E

更新日期：1985-10-01 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：:There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...

journal_title：Annals of human genetics

authors： Van Steen K,Sleegers K

更新日期：2011-07-01 00:00:00

abstract：:Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...

journal_title：Annals of human genetics

authors： Osawa M,Yuasa I,Kitano T,Henke J,Kaneko M,Udono T,Saitou N,Umetsu K

更新日期：2001-01-01 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：:This study traces the evolutionary pathways of the apolipoprotein B gene in the low risk Chinese and high risk Asian Indians in relation to coronary artery disease (CAD). Haplotypes were constructed from six apoB polymorphisms sp24/27, Ag(c/g), Ag(a1/d), XbaI, Ag(h/i) and, Ag(t/z). These were genotyped from 474 Chines...

journal_title：Annals of human genetics

authors： Heng CK,Saha N,Low PS

更新日期：1999-01-01 00:00:00

abstract：:The objectives of this study were to elucidate the genetic basis of human deoxyribonuclease II (DNase II) and to evaluate its usefulness as a genetic and/or diagnostic marker. We have devised a novel, specific and highly sensitive assay method for the urinary and leukocytic enzymes (Yasuda et al. 1991). The distributi...

journal_title：Annals of human genetics

authors： Yasuda T,Nadano D,Sawazaki K,Kishi K

更新日期：1992-01-01 00:00:00

abstract：:The reported associations between HLA antigen DR3 and null (QO) alleles at the C4A and C4B loci and systemic lupus erythematosus are here analysed. The empirical logistic method has been applied to a body of data which included the relevant genotypes. The analysis suggests that the association with null alleles at the...

journal_title：Annals of human genetics

authors： Green JR,Montasser M,Woodrow JC

更新日期：1986-01-01 00:00:00

abstract：:Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...

journal_title：Annals of human genetics

authors： Su WH,Shi ZH,Liu SL,Wang XD,Liu S,Ji Y

更新日期：2018-07-01 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：: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：:Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring chromosome in a patient with mild mental retardation, long taperi...

journal_title：Annals of human genetics

authors： Timur AA,Sadgephour A,Graf M,Schwartz S,Libby ED,Driscoll DJ,Wang Q

更新日期：2004-07-01 00:00:00