Keywords: تجزیه haplotype; Retrotransposon element; Alu insertion; hereditary cancer testing; next generation sequencing; haplotype analysis;
مقالات ISI تجزیه haplotype (ترجمه نشده)
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Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
Keywords: تجزیه haplotype; C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de ClÃnicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan
TG haplotype in the LRP8 is associated with myocardial infarction in south Indian population
Keywords: تجزیه haplotype; MI; Myocardial infarction; LRP8; Low density lipoprotein receptor related protein 8; LDL C; low density lipoprotein cholesterol; VLDL C; very low density lipoprotein cholesterol; HDLC; High density lipoprotein cholesterol; apoA-I; Apolipoprotein A-I; TC;
Genetic diversity and structure in apple-infesting pests of Carposina sasakii, Grapholita dimorpha and Grapholita molesta in Korea
Keywords: تجزیه haplotype; Carposina sasakii; Grapholita dimorpha; Grapholita molesta; Apple-infesting larvae; Genetic diversity; Haplotype analysis;
Vascular endothelial growth factor (VEGF) gene polymorphisms (rs699947, rs833061, and rs2010963) and psoriatic risk in South Indian Tamils
Keywords: تجزیه haplotype; Psoriasis; VEGF gene polymorphisms; Angiogenesis; Haplotype analysis; South Indian Tamils;
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations
Keywords: تجزیه haplotype; Cerebral cavernous malformations; Clinical management; Haplotype analysis; Polymorphisms;
Bridging ImmunoGenomic Data Analysis Workflow Gaps (BIGDAWG): An integrated case-control analysis pipeline
Keywords: تجزیه haplotype; ALD; asymmetric linkage disequilibrium; BIGDAWG; Bridging ImmunoGenomic Data-Analysis Workflow Gaps; BWA; BIGDAWG web application; DOF; degrees of freedom; GWAS; genome wide association study; HLA; human leukocyte antigen; HWEP; Hardy-Weinberg equilibri
Genetic diversity in Echinococcus shiquicus from the plateau pika (Ochotona curzoniae) in Darlag County, Qinghai, China
Keywords: تجزیه haplotype; E. shiquicus; Plateau pika; E. multilocularis; Restriction endonuclease analysis; Haplotype analysis; Genetic diversity;
Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis
Keywords: تجزیه haplotype; C9orf72; Amyotrophic lateral sclerosis; Haplotype analysis; Southern blotting; Cognitive impairment; Meta-analysis; Chinese population;
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins
Keywords: تجزیه haplotype; Wilson disease; ATP7B mutations; Haplotype analysis; Genetic epidemiology
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients
Keywords: تجزیه haplotype; Fukuyama congenital muscular dystrophy; FKTN; 3-kb insertion; Haplotype analysis; Founder mutation
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia
Keywords: تجزیه haplotype; Sickle cell disease; Hemoglobin; Genetic association; Haplotype analysis
Identification of a founder mutation for Pendred syndrome in families from northwest Iran
Keywords: تجزیه haplotype; Pendred syndrome; SLC26A4 gene; Linkage analysis; Haplotype analysis; Founder mutation; Iran
Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR ★
Keywords: تجزیه haplotype; Cystic fibrosis; High Resolution Melting; Prenatal diagnosis; Mutation detection; Haplotype analysis; QF-PCR
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency
Keywords: تجزیه haplotype; CYP11B1 gene; 11-Beta hydroxylase deficiency; Congenital adrenal hyperplasia; Haplotype analysis; Founder effect gene; Novel CYP11B1 mutations;
Association of HLA-G 3â²UTR polymorphisms with response to malaria infection: A first insight
Keywords: تجزیه haplotype; Malaria; HLA-G 3â²UTR; Family-based association; Haplotype analysis; Immune development;
Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation
Keywords: تجزیه haplotype; BRCA1; Founder mutations; Genetic testing; c.4035delA; Haplotype analysis
A haplotype analysis is consistent with the role of functional HTR1B variants in alcohol dependence
Keywords: تجزیه haplotype; Alcoholism; HTR1B gene; Association study; Haplotype analysis
A novel 7Â bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
Keywords: تجزیه haplotype; autosomal dominant retinitis pigmentosa; PRPF31; linkage analysis; mutation screening; haplotype analysis; RP11 locus;
Analysis of hepatitis B virus drug-resistant mutant haplotypes by ultra-deep pyrosequencing
Keywords: تجزیه haplotype; Drug-resistance mutation; haplotype analysis; hepatitis B virus; ultra-deep pyrosequencing;
Tissues expression analysis, novel SNPs of the bovine Angptl4 gene and its effects on bovine bioeconomic traits
Keywords: تجزیه haplotype; Cattle; Angptl4; Expression; Polymorphisms; Haplotype analysis; Association analysis;
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
Keywords: تجزیه haplotype; Amyotrophic lateral sclerosis; Frontotemporal dementia; C9ORF72; Repeat expansion; Mutation analysis; Haplotype analysis;
Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy
Keywords: تجزیه haplotype; Lateral temporal epilepsy; KCNAB1; Case–control study; SNPs; Haplotype analysis
Role of gene-gene/gene-environment interaction in the etiology of eastern Indian ADHD probands
Keywords: تجزیه haplotype; ADHD; Attention deficit hyperactivity disorder; COMT; Catechol-O-methyltransferase; DAT; Dopamine transporter; DBH; Dopamine beta hydroxylase; DNA; Deoxyribonucleic acid; DRD4; Dopamine receptor 4; DSM IV; Diagnostic and statistical manual for mental diso
Genealogical studies in LRRK2-associated Parkinson’s disease in central Norway
Keywords: تجزیه haplotype; p.G2019S; Common founder; Family studies; Haplotype analysis
Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema
Keywords: تجزیه haplotype; haplotype analysis; hereditary angiooedema; molecular PGD; monogenic disease; preimplantation genetic diagnosis
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
Keywords: تجزیه haplotype; haplotype analysis; monogenic disease; PGD; PGH; whole genome amplification
The genetics of pain: implications for evaluation and treatment of spinal disease
Keywords: تجزیه haplotype; Pain genetics; Chronic pain; Spinal disorders; Diagnostic testing; Genetic polymorphism; Haplotype analysis
Promoter polymorphisms of the NOS3 gene are associated with hypnotizability-dependent vascular response to nociceptive stimulation
Keywords: تجزیه haplotype; Hypnotizability; Endothelial function; NOS3; Haplotype analysis; Linkage disequilibrium
Association study of the gamma-aminobutyric acid type a receptor γ2 subunit gene with schizophrenia
Keywords: تجزیه haplotype; Schizophrenia; GABAA gamma2 subunit gene GABRG2; Dopamine receptor gene DRD5; Genetics; Paired case-control sample; Family based association test; Haplotype analysis
A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction
Keywords: تجزیه haplotype; Parkinson disease; Parkinsonian conditions; Autosomal dominant parkinsonism; Alpha-synuclein; A53T mutation; Ala53Thr; A53T; Biomarkers; CSF examination; Cerebrospinal fluid; Neuroimaging; Longitudinal clinical follow-up; Haplotype analysis; SPECT; Single
Increased risk of suicide attempt in mood disorders and TPH1 genotype
Keywords: تجزیه haplotype; Suicide attempt; Prediction; Major depressive episode; Haplotype analysis
Thioredoxin reductase 1 haplotypes modify familial amyotrophic lateral sclerosis onset
Keywords: تجزیه haplotype; Amyotrophic lateral sclerosis; Familial amyotrophic lateral sclerosis; Thioredoxin reductase; Thioredoxin system; Haplotype analysis; Redox enzymes; Free radicals
No association between polymorphisms in the FACL4 (fatty acid-CoA ligase 4) gene and nonspecific mental retardation in Qin-Ba mountain region of China
Keywords: تجزیه haplotype; Non-specific mental retardation (NSMR); Long chain fatty acid-CoA ligase 4 (FACL4) gene; Single-nucleotide polymorphism (SNP); Haplotype analysis; Association study
Non-syndromic Mental Retardation is not expressed in RAC1 Gene Polymorphisms
Keywords: تجزیه haplotype; Mental retardation; RAC1 gene; Polymorphism; Haplotype analysis;
Association of ApoE genetic variants with obstructive sleep apnea in children
Keywords: تجزیه haplotype; Genetic susceptibility; Obstructive sleep apnea; Haplotype analysis; Pediatric OSA; Snoring; Haplotype trend regression
Do polymorphisms and haplotypes of mismatch repair genes modulate risk of sporadic colorectal cancer?
Keywords: تجزیه haplotype; DNA mismatch repair; Genetic polymorphism; Haplotype analysis; Colorectal cancer susceptibility;
New Evidence for the Association of the Serotonin Transporter Gene (SLC6A4) Haplotypes, Threatening Life Events, and Depressive Phenotype
Keywords: تجزیه haplotype; 5-HTTLPR; Depression; G × E interaction; haplotype analysis; polymorphism; threatening life events
Inflammatory cytokine gene polymorphisms in gastric cancer cases’ and controls’ family members from Chinese areas at high cancer prevalence
Keywords: تجزیه haplotype; Polymorphisms; IL-1; Gastric cancer; H. pylori; Haplotype analysis
Direct haplotyping of bi-allelic SNPs using ARMS and RFLP analysis techniques
Keywords: تجزیه haplotype; Haplotype analysis; ARMS; RFLP analysis
MLC1 Polymorphisms Are Specifically Associated with Periodic Catatonia, a Subgroup of Chronic Schizophrenia
Keywords: تجزیه haplotype; Haplotype analysis; KIA0027; polymorphism; promoter; schizophrenia; schizophrenic psychoses; whiter matter; WKL1
An association study between cathechol-O-methyltransferase gene and mental retardation in the Chinese Han population
Keywords: تجزیه haplotype; 110.210Mental retardation (MR); Cathechol-O-methyltransferase (COMT); Single-nucleotide polymorphism (SNP); Haplotype analysis; Association study
Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation
Keywords: تجزیه haplotype; Acid α-glucosidase; GAA; Glycogen storage disease; Haplotype analysis; Lysosomal storage disorder; Molecular analysis; Pompe disease
BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups
Keywords: تجزیه haplotype; BDNF; Parkinson's disease; Association study; Haplotype analysis;
Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophrenia
Keywords: تجزیه haplotype; CYP1A2, cytochrome P450 1A2; QTc prolongation, corrected QT interval; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphismAntipsychotics; CYP1A2 gene; Genetic polymorphisms; Haplotype analysis; QTc interval
C-reactive protein gene polymorphism 1009A>G is associated with serum CRP levels in Chinese men: A TCVGHAGE study
Keywords: تجزیه haplotype; C-reactive protein; Genetic polymorphism; Haplotype analysis
A Haplotype Spanning KIAA0319 and TTRAP Is Associated with Normal Variation in Reading and Spelling Ability
Keywords: تجزیه haplotype; Family-based association; haplotype analysis; KIAA0319; reading ability; spelling ability; TTRAP
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) patients, including 9 novel mutations
Keywords: تجزیه haplotype; Maroteaux–Lamy syndrome; Mucopolysaccharidosis VI; MPS VI; N-Acetylgalactosamine-4-sulfatase; Arylsulfatase B; ARSB gene; Mutational analysis; Haplotype analysis
Analysis of linkage between lymphotoxin α haplotype and polymorphisms in 5â²-flanking region of tumor necrosis factor α gene associated with efficacy of infliximab for Crohn's disease patients
Keywords: تجزیه haplotype; Crohn's disease; Infliximab; Tumor necrosis factor α; Lymphotoxin α; Haplotype analysis;
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
Keywords: تجزیه haplotype; 16q-linked ADCA; Puratrophin-1 gene; Heterozygote; Homozygote; Haplotype analysis