دانلود مقالات ISI درباره Exac + ترجمه فارسی

طیف جهش ژنهای کاندیدای هیپر فینیل آلانینمی و همبستگی ژنوتیپ-فنوتیپ در جمعیت چینی

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population

Keywords: Exac; HPA; hyperphenylalaninemia; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; NGS; next generation sequencing; MLPA; multiplex ligation-dependent probe amplification; qRT-PCR; quantitative real-time PCR; APV; allelic phenotype values; GPV; genotyp

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

جهش های ژنتیکی نادر در بیماران مبتلا به کایو آمیاوپاتی انسدادی پاکستان

Rare genetic mutations in Pakistani patients with dilated cardiomyopathy

Keywords: Exac; DCM; dilated cardiomyopathy; SIFT; Sorting Intolerant from Tolerant; CADD; Combined Annotation Depletion Dependent; GWAS; genome wide association studies; NGS; Next Generation DNA sequencing; ExAC; Exome Aggregation Consortium; SNV; Single Nucleotide Vari

دانلود رایگان متن کامل مقاله ISI 24 صفحه سال انتشار : 2018 سفارش ترجمه

پایگاه های داده / وب سرویس دهنده ها: یک منبع برای تقویت سیگنال های ژنتیک جمعیتی با تکرار پروتئین

Databases/Web ServersIntensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats

Keywords: Exac; RPD; repeat protein domain; MSA; multiple sequence alignment; PPI; protein-protein interaction; TPR; tetratricopeptide repeat; ANK; Ankyrin repeat; ExAC; Exome Aggregation Consortium; SNV; single nucleotide variant; DAF; derived allele frequency; PDB; P

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2017 سفارش ترجمه

بررسی مولکولی بالینی متمرکز شده از 1000 خانواده متوالی با بیماری های مجاری ادراری

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Keywords: Exac; AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2017 سفارش ترجمه

بیماریهای ابتلا به کمبود ایمنی: رویکردهای ژنتیکی اختلالات مندلیایی ناهمگن را تشریح می کنند

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Keywords: Exac; Primary immunodeficiency disease; whole-exome sequencing; copy number variants; AD; Autosomal dominant; ALPS; Autoimmune lymphoproliferative syndrome; AR; Autosomal recessive; BCM; Baylor College of Medicine; BHCMG; Baylor-Hopkins Center for Mendelian Gen

دانلود رایگان متن کامل مقاله ISI 89 صفحه سال انتشار : 2017 سفارش ترجمه

تجزیه و تحلیل داده های توالی آماری کامل در مجموع به منظور تعیین شیوع اشکال ژنتیکی متمایز از لیپوفوس کینوزئیک سرود نورونی

Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis

Keywords: Exac; AFR; African; AMR; Latino; BDSRA; Batten Disease Support and Research Association; EAS; East Asian; ExAC; Exome Aggregation Consortium; FIN; Finnish; FTD; frontotemporal dementia; HGMD; Human Gene Mutation Database; NCL; neuronal ceroid lipofuscinosis; NF

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

وعده و خطر دقت پزشکی

The Promise and Peril of Precision Medicine

Keywords: Exac; ACMG; American College of Medical Genetics and Genomics; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ExAC; Exome Aggregation Consortium; HCM; hypertrophic cardiomyopathy; INDEL; insertion/deletion; LOF; loss of fun

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients

Keywords: Exac; CADD; Combined Annotation Dependent Depletion; CSID; congenital sucrase-isomaltase deficiency; ExAC; Exome Aggregation Consortium; IBS; irritable bowel syndrome; IBS-C; IBS with constipation; IBS-D; IBS with diarrhea; M-CAP; Mendelian Clinically Applicabl

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Association of the AADAC gene and Tourette syndrome in a Han Chinese cohort

Keywords: Exac; AADAC; the arylacetamide deacetylase gene; ExAC; Exome Aggregation Consortium; HDC; the histidine decarboxylase gene; HTR2B; the 5-hydroxytryptamine receptor 2B gene; PCR; polymerase chain reaction; TS; Tourette syndrome; Tourette syndrome; AADAC gene; Va

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia

Keywords: Exac; ALP; alkaline phosphatase; ESR; erythrocyte sedimentation rate; EVS; Exome Variant Server; ExAC; Exome Aggregation Consortium; FDG; 18fluorodeoxyglucose; FGF23; fibroblast growth factor-23; PHEX; phosphate-regulating neutral endopeptidase; PsA; psoriatic

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China

Keywords: Exac; WES; whole-exome sequencing; ODF1; outer dense fiber 1; ExAC; Exome Aggregation Consortium; SNP; single nucleotide polymorphism; WB; western blot; IF; immunofluorescence; Acephalic spermatozoa; SUN5; Whole-exome sequencing; ODF1;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family

Keywords: Exac; OAT; oligoasthenoteratozoospermia; WES; whole-exome sequencing; ICSI; intracytoplasmic sperm injection; IVF; in vitro fertilization; ExAC; Exome Aggregation Consortium; gnomAD; genome Aggregation Database; dbSNP; Short Genetic Variations database; 1000G;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes

Keywords: Exac; ACMG; American College of Medical Genetics; AS; Angelman syndrome; DD/ID; developmental delay/intellectual disability; EEG; electroencephalograph; EVS; Exome Variant Server; ExAC; Exome Aggregation Consortium; IHPRF2; infantile hypotonia with psychomotor

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia

Keywords: Exac; CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Keywords: Exac; Fructose-1,6-bisphosphatase; FBPase deficiency; FBP1 gene mutation; FBPase; fructose-1,6-bisphosphatase; HGMD; Human Gene Mutation Database; Polyphen; Polymorphism Phenotyping; SIFT; Sorting Intolerant From Tolerant; ExAC; Exome Aggregation Consortium;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site

Keywords: Exac; Ab; antibody; ACTB; β-actin; ACVRL1; Activin A Receptor type II-Like Kinase 1; AVM; ArterioVenous Malformation; BMP; Bone Morphogenetic Protein; BMPR2; Bone Morphogenetic Protein Receptor Type 2; CAVM; Cerebral ArterioVenous Malformation; CTRL; control;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients

Keywords: Exac; PD; Parkinson's disease; GBA; glucocerebrosidase gene; PolyPhen-2; polymorphism phenotyping v2; dbSNP 142; single nucleotide polymorphism database 142; ExAC; Exome Aggregation Consortium database; L-DOPA; L-3,4-dihydroxyphenylalanine; SIFT; Sorting Into

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2018 سفارش ترجمه

A novel mutation in HAUS7 results in severe oligozoospermia in two brothers

Keywords: Exac; SO; severe oligozoospermia; WES; whole-exome sequencing; IVF; in vitro fertilization; ICSI; intracytoplasmic sperm injection; NOA; non-obstructive azoospermia; FSH; follicle-stimulating hormone; LH; luteinizing hormone; T; testosterone; PRL; prolactin; E2

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2018 سفارش ترجمه

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene

Keywords: Exac; ADPKD; Autosomal Dominant Polycystic Kidney Disease; ESRD; end-stage renal disease; Leucine-rich LRR; leucine rich repeat; WSC; cell wall integrity and stress response component; LDL-A; low density lipoprotein-A; IG-Like; immunoglobulin-like; REJ; recepto

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2018 سفارش ترجمه

Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer

Keywords: Exac; AAS; Amino Acid Substitution; BAM; Binary Alignment Map; BER; Base Excision Repair; CI; Confidence Interval; CVC; Cross Validation Consistency; dbSNP; Single Nucleotide Polymorphism database; DDG; The predicted free energy change value; DSBR; Double Stran

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2018 سفارش ترجمه

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers

Keywords: Exac; ML-ll; Mucolipidosisll; ML-lll; Mucolipidosislll; SSI-3; Stuttering Severity Instrument version-3; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; PCR; Polymerase Chain Reaction; Non-syndromic stuttering; GNPTAB; GNPTG; NAGPA; Bioinform

دانلود رایگان متن کامل مقاله ISI 33 صفحه سال انتشار : 2018 سفارش ترجمه

Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis

Keywords: Exac; CRC; colorectal cancer; ExAC; Exome Aggregation Consortium;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka

Keywords: Exac; GH; Growth hormone; IGHD; Isolated growth hormone deficiency; SNV; Single nucleotide variant; TGP; Thousand genome project; ExAC; Exome aggregation consortium; MAF; Minor allele frequency/minor allele count; GH1 gene; GHRHR gene; Isolated growth hormone d

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Novel pathogenic ACAN variants in non-syndromic short stature patients

Keywords: Exac; SEDK; spondyloepiphyseal dysplasia Kimberley type; OD; osteochondritis dissecans; SEMD; spondyloepimetaphyseal dysplasia; ISS; idiopathic short stature; rhGH; Recombinant human growth hormone; OA; osteoarthritis; pLI; probability of Loss of Function intol

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2017 سفارش ترجمه

Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population

Keywords: Exac; AFDS; Amish Family Diabetes Study; CPE; carboxypeptidase E; ExAC; Exome Aggregation Consortium; ESP; Exome Sequencing Project; GERP; genomic evolutionary rate profiling; IGT; impaired glucose tolerance; MAF; minor allele frequency; NGT; normal glucose tol

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2017 سفارش ترجمه

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Keywords: Exac; ADID; autosomal dominant intellectual disability; ARID; autosomal recessive intellectual disability; CADD; Combined Annotation Dependent Depletion; cDNA; complementary deoxyribonucleic acid; DNA; deoxyribonucleic acid; ExAC; Exome Aggregation Consortium;

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2017 سفارش ترجمه

Genetic variants of the DNA repair genes from Exome Aggregation Consortium (EXAC) database: significance in cancer

Keywords: Exac; AP; Apurinic/Apyrimidinic; BER; Base excision repair; dbSNP; Single Nucleotide Polymorphism database; DNA; Deoxyribonucleic acid; DSB; Double-strand break; ExAC; Exome Aggregation Consortium; FA; ;Fanconi Anemia; GGR; Global Genomic Repair; GWAS; Genome W

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2017 سفارش ترجمه

Achieving neuroprotection with LRRK2 kinase inhibitors in Parkinson disease

Keywords: Exac; COR; C-terminal of Ras; CSF; cerebral spinal fluid; DAT-1; dopamine transporter-1; ERK5; extracellular-signal-regulated kinase 5; ExAC; Exome Aggregation Consortium; GTPase; Guanosine Triphosphate Hydrolase; LoF; loss of function; LRRK2; leucine-rich repe

دانلود رایگان متن کامل مقاله ISI 50 صفحه سال انتشار : 2017 سفارش ترجمه

Full Length ArticleAssessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses

Keywords: Exac; HME; hereditary multiple exostoses; MO; multiple osteochondromas; EXT1; exostosin glycosyltransferase 1; EXT2; exostosin glycosyltransferase 2; ExAC; Exome Aggregation Consortium; MOdb; Multiple Osteochondromas database; LoF; loss of function; pLI; probab

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Gigantism: X-linked acrogigantism and GPR101 mutations

Keywords: Exac; XLAG; X-linked acrogigantism; GPCR; G protein-coupled receptor; GHRHR; Growth hormone releasing hormone receptor; FoSTeS/MMBIR; Fork stalling and template switching/microhomology-mediated break-induced replication; aCGH; Comparative genomic hybridization

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

Keywords: Exac; BAP1; BRCA1-associated protein-1; BRCA1; breast cancer 1; CI; confidence interval; ExAC; Exome Aggregation Consortium; LBD; largest basal diameter; TNM; Tumor, Node, Metastasis classification; UCSC; University of California Santa Cruz;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

Research paperNovel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis

Keywords: Exac; AFAP; attenuated familial adenomatous polyposis; APC; adenomatous polyposis coli; CFAP; classical FAP; CHRPE; congenital hypertrophy of the retinal pigment epithelium; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; FAP; familial adenom

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size

Keywords: Exac; AF; atrial fibrillation; bpm; beats per minute; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; hpf; hours post fertilization; K+;  potassium; K2P; two-pore domain K+ channels; MAF; minor allele frequency; MDCK; Madin-Darby canine kidn

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2016 سفارش ترجمه

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Keywords: Exac; ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2016 سفارش ترجمه

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Keywords: Exac; V(D)J recombination; nonhomologous end-joining; DNA repair; ARTEMIS deficiency; DCLRE1C mutations; severe combined immunodeficiency; A-MuLV; Abelson murine leukemia virus; ExAC; Exome Aggregation Consortium; GFP; Green fluorescent protein; IR; Ionizing ra

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2015 سفارش ترجمه

Original ResearchFull Report: Basic and Translational-Alimentary TractGenetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas

Keywords: Exac; Colon Cancer; Hereditary Cancer; Genomic Instability; Tumorigenesis; BMP; bone morphogenetic protein; DSB; double-strand break; EVS; Exome Variant Server; ExAC; Exome Aggregation Consortium; FA; Fanconi's anemia; FCRC; familial colorectal cancer; HQV; h

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2015 سفارش ترجمه