The effects of demographic transition on the opportunity for selection: changes during the last century in Italy.

abstract：:Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

journal_title：Annals of human genetics

authors： Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

更新日期：2005-09-01 00:00:00

abstract：:Electrophoretic analysis of the Ps protein demonstrated the existence of phenotypes additional to those described by Azen & Denniston (1980). A hypothesis that the polymorphism of the Ps protein is determined by five expressed and one unexpressed alleles was supported by family studies. The gene frequencies in a Japan...

journal_title：Annals of human genetics

authors： Minaguchi K,Shirotani T,Suzuki K

更新日期：1988-01-01 00:00:00

abstract：:The available simple mapping functions are surveyed, and a new mapping function that provides for positive interference within chromosome arms and no interference across the centromere is proposed, together with the corresponding formula for centromeric linkage. This new function is derived by assuming that all chromo...

journal_title：Annals of human genetics

authors： Sturt E

更新日期：1976-11-01 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：:To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Co...

journal_title：Annals of human genetics

authors： Alonso S,Armour JA

更新日期：2004-09-01 00:00:00

abstract：:Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations....

journal_title：Annals of human genetics

authors： Arnason E

更新日期：2003-01-01 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：:Appetite regulatory neural network and adipocyte homeostasis molecular pathways are critical to long-term weight maintenance. Associations between obesity-related phenotypes and four genes in these pathways - leptin (LEP), leptin receptor (LEPR), neuropeptide Y2 receptor (NPY2R) and peptide YY (PYY) were examined in C...

journal_title：Annals of human genetics

authors： Friedlander Y,Li G,Fornage M,Williams OD,Lewis CE,Schreiner P,Pletcher MJ,Enquobahrie D,Williams M,Siscovick DS

更新日期：2010-09-01 00:00:00

abstract：:HLA typing was conducted on 577 family members of 86 families having at least two first-degree family members with a lifetime history of major depression or bipolar disorder. The results were combined with a follow-up study of 10 Newfoundland kindreds and with the data obtained from our previous studies, giving a tota...

journal_title：Annals of human genetics

authors： Stancer HC,Weitkamp LR,Persad E,Flood C,Jorna T,Guttormsen SA,Yagnow RL

更新日期：1988-10-01 00:00:00

abstract：:Atypical hemolytic uremic syndrome (aHUS) is caused by several susceptibility genes. A registry including analyses of susceptibility genes, familial occurrence and genotype-phenotype correlation should provide classification insights. Registry data of 187 unrelated index patients included age at onset, gender, family ...

journal_title：Annals of human genetics

authors： Sullivan M,Erlic Z,Hoffmann MM,Arbeiter K,Patzer L,Budde K,Hoppe B,Zeier M,Lhotta K,Rybicki LA,Bock A,Berisha G,Neumann HP

更新日期：2010-01-01 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：:Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic d...

journal_title：Annals of human genetics

authors： Serra A,Görgens H,Alhadad K,Fitze G,Schackert HK

更新日期：2010-07-01 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：:The CACH/VWM syndrome is an autosomal recessive leukodystrophy characterized by a broad spectrum of clinical presentations and by diffuse cavitary degeneration of the white matter on MRI. Mutations responsible for this disorder are missense or frameshift mutations occurring in the five genes (EIF2B1-5) that encode the...

journal_title：Annals of human genetics

authors： Horzinski L,Gonthier C,Rodriguez D,Scherer C,Boespflug-Tanguy O,Fogli A

更新日期：2008-05-01 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：:It is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner...

journal_title：Annals of human genetics

authors： Greeff JM

更新日期：2007-09-01 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：:Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...

journal_title：Annals of human genetics

authors： Davis MB

更新日期：1987-01-01 00:00:00

abstract：:The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...

journal_title：Annals of human genetics

authors： Ahsan A,Norboo T,Baig MA,Qadar Pasha MA

更新日期：2005-05-01 00:00:00

abstract：:The mitochondrial DNA variation of 295 Berber-speakers from Morocco (Asni, Bouhria and Figuig) and the Egyptian oasis of Siwa was evaluated by sequencing a portion of the control region (including HVS-I and part of HVS-II) and surveying haplogroup-specific coding region markers. Our findings show that the Berber mitoc...

journal_title：Annals of human genetics

authors： Coudray C,Olivieri A,Achilli A,Pala M,Melhaoui M,Cherkaoui M,El-Chennawi F,Kossmann M,Torroni A,Dugoujon JM

更新日期：2009-03-01 00:00:00

abstract：:Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic regio...

journal_title：Annals of human genetics

authors： Direk K,Lau W,Small KS,Maniatis N,Andrew T

更新日期：2014-09-01 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：: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：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 aims of this study were to investigate the contributions of the mitochondrial DNA m.4216T > C and m.4917A > G variants, and also of the European-specific mitochondrial cluster J/T, to the development of type 2 diabetes mellitus in Caucasian-Brazilian patients from Southern Brazil. We analyzed 347 type 2 diabetes p...

journal_title：Annals of human genetics

authors： Crispim D,Canani LH,Gross JL,Tschiedel B,Souto KE,Roisenberg I

更新日期：2006-07-01 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：: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：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：: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：:A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...

journal_title：Annals of human genetics

authors： Momose Y,Aimi Y,Hirayama T,Kataoka M,Ono M,Yoshino H,Satoh T,Gamou S

更新日期：2015-03-01 00:00:00