Annals Of Human Genetics

Annals Of Human Genetics

人类遗传学年鉴

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文章名称 引用次数
Mini-review: Update on the genetics of schizophrenia 8
Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans 7
Association of polymorphisms in genes coding for antioxidant enzymes and human male infertility 5
Clinical relevance of genome-wide polygenic score may be less than claimed 5
CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population 4
Analysis of causal effect of APOA5 variants on premature coronary artery disease 4
Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome 4
Genetic susceptibility of glutathione S-transferase genes (GSTM1/T1 and P1) to coronary artery disease in Asian Indians 4
Expression patterns common and unique to ulcerative colitis and celiac disease 4
DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy 4
Association of MIR146A rs2910164 variation with a predisposition to sporadic breast cancer in a Pakistani cohort 4
Significant association of rare variant p.Gly8Ser in cardiac sodium channel beta 4-subunit SCN4B with atrial fibrillation 4
Update of spectrum c.35delG and c.-23+1G > A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss 4
Genome-wide association study of lncRNA polymorphisms with bone mineral density 4
The rs75932628 and rs2234253 polymorphisms of the TREM2 gene were associated with susceptibility to frontotemporal lobar degeneration in Caucasian populations 4
Whole-exome sequencing suggests multiallelic inheritance for childhood-onset Meniere's disease 4
Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia 3
Association between TNF-alpha polymorphisms and the risk of upper gastrointestinal bleeding induced by aspirin in patients with coronary heart disease 3
Adaptation to milking agropastoralism in Chilean goat herders and nutritional benefit of lactase persistence 3
A PEAR1 polymorphism (rs12041331) is associated with risk of coronary artery aneurysm in Kawasaki disease 3
Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes 3
Transethnic differences in GWAS signals: A simulation study 3
Expression of miRNA-146a, miRNA- IL- and TNF-alpha in inflammatory response to Helicobacter pylori infection associated with cancer progression 3
A new association between CDK5RAP2 microcephaly and congenital cataracts 3
Construction of an Exome-Wide Risk Score for Schizophrenia Based on a Weighted Burden Test 3
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation 3
Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis 3
The association of LRP6 rs2302685 (V1062I) polymorphism with the risk of hyperlipidemia in Iranian children and adolescents 2
Polymorphisms of dopamine receptor genes DRD2 and DRD4 in African populations of Hadza and Datoga differing in the level of culturally permitted aggression 2
Deletion at 12q12 increases the risk of developmental delay and intellectual disability 2
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy 2
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome 2
How many cases of disease in a pedigree imply familial disease? 2
The MOSAICC study: Assessing feasibility for biological sample collection in epidemiology studies and comparison of DNA yields from saliva and whole blood samples 2
Associations of the melanocortin 3 receptor C17A+G241A haplotype with body composition and inflammation in African-American adults 2
Population genetics of 15 autosomal STR loci in the Han population of Ili Kazakh Autonomous Prefecture, Northwestern China 2
Ancestry informative SNP panels for discriminating the major East Asian populations: Han Chinese, Japanese and Korean 2
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies 2
SIRT1 gene polymorphisms are associated with nondiabetic type 1 cardiorenal syndrome 2
Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents 2
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family 2
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs 2
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations 2
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease 2
Parent-of-origin-environment interactions in case-parent triads with or without independent controls 2
Gene-based evaluation of low-frequency variation and genetically-predicted gene expression impacting risk of keloid formation 2
Genetic relatedness of indigenous ethnic groups in northern Borneo to neighboring populations from Southeast Asia, as inferred from genome-wide SNP data 2
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type 2
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family 1
Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia 1