دانلود مقالات ISI درباره Hgmd + ترجمه فارسی

مشخصات ژنتیکی بیماران مبتلا به ابتلا به بیماری التهابی روده

Genetic profile of patients with early onset inflammatory bowel disease

Keywords: IBD; Inflammatory Bowel Disease; IL10; Interlukin-10; NOD2; Nucleotide Binding Oligomerization Domain Containinig 2; ATG16L1; Autophagy related 16 Like 1; IL23R; Interlukin 23 Receptor; IL10R; Interlukin 10 Receptor; XIAP; X-linked Inhibitor of Apoptosis;

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

بیماری های ژنتیکی مبتلا به الاستین

Elastin-driven genetic diseases

Keywords: ADCL; autosomal dominant cutis laxa; BAC; bacterial artificial chromosome; COPD; chronic obstructive pulmonary disease; ER; endoplasmic reticulum; ERK; extracellular signal-regulated kinases; hELN; human elastin gene; HGMD; Human Gene Mutation Database;

دانلود رایگان متن کامل مقاله ISI 60 صفحه سال انتشار : 2018 سفارش ترجمه

ژن هدفمند ژنتیکی در کودکان چینی با پانکراتیت مزمن و پانکراتیت حاد مکرر

Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis

Keywords: chronic pancreatitis; acute recurrent pancreatitis; PRSS1; SPINK1; CFTR; next-generation sequencing; ATP8B1; ATPase type 8B member 1; CASR; Calcium-sensing receptor; CFTR; Cystic fibrosis transmembrane conductance regulator gene; CLDN2; CLAUDIN 2; CP; Chr

دانلود رایگان متن کامل مقاله ISI 9 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: 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

خصوصیات بالینی، ژنتیک و بیوانفورماتیک گزارش بیماری پروستات کمپلومیک

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report

Keywords: AMH; anti-Müllerian hormone; CD; campomelic dysplasia; DIM; dimerization domain; HMG; the DNA-binding/bending high mobility group domain; HGMD; Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff; K2; central transactivation doma

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 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: 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

پیش بینی پاتوژنیت تغییرات توالی آنتی ترومبین در روش های سیلیکا

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods

Keywords: AT; antithrombin; AUC; area under the curve; HGMD; Human Gene Mutation Database; HGVS; Human Genome Variation Society; NCBI; National Center for Biotechnology Information; NPV; negative predictive value; PPV; positive predictive value; Q2; accuracy; ROC;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

توالی عام کامل 10 دانشمند: ارزیابی روند و نتایج

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Keywords: GATK; Genome Analysis Toolkit; HGMD; Human Mutation Database; IRB; institutional review board; VUS; variants of uncertain significance; WES; whole-exome sequencing;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

طیف جهش نوع اول هیپرکسالورژی اولیه در تونس: پیامدهای تشخیص در شمال آفریقا

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

Keywords: PH1; Primary hyperoxaluria type 1; AGT; alanine glyoxylate aminotransferase; vitamin B6; pyridoxine; CaOx; calcium oxalate; NC; nephrocalcinosis; ESRD; end-stage renal disease; AGT-Mi; minor allele haplotype; HGMD; Human Gene Mutation Database; SNPs; sing

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Early-onset epileptic encephalopathy with de novo SCN8A mutation

Keywords: SCN8A; The inactivation gate; Early-onset epileptic encephalopathies; SUDEP; BFIS; benign familial infantile seizures; dbSNP; single nucleotide polymorphism database; DQ; development quotient; ECG; electrocardiogram; EE; epileptic encephalopathies; EEG; e

دانلود رایگان متن کامل مقاله ISI 5 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: 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

The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans

Keywords: SMA; spinal muscular atrophy; SMN; survival of motor neuron; NMD; nonsense-mediated decay; PTC; premature termination codon; fl-SMN1; full-length SMN1; DMEM; Dulbecco's modified Eagle's medium; MLPA; multiplex ligation-dependent probe amplification; PCR;

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

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects

Keywords: CTDs; Conotruncal heart defects; CHDs; Congenital heart defects; TOF; Tetralogy of Fallot; TGA; Transposition of the great arteries; DORV; Double outlet right ventricle; PA/VSD; Pulmonary atresia with ventricular septal defect; PTA; Persistent truncus art

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

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

Keywords: C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de Clínicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan

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

Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import

Keywords: AR; androgen receptor; CYP11A1; cytochrome P450 family 11 subfamily a member 1; CYP17A1; cytochrome P450 family 17 subfamily a member 1; DHH; desert hedgehog; DMRT1/2/3; doublesex and mab-3 related transcription factor 1/2/3; DSD; disorders of sex develop

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2018 سفارش ترجمه

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

Keywords: 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

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type

Keywords: AdoCbl; adenosylcobalamin; ATR; ATP:cob(I)alamin adenosyltransferase; DSF; differential scanning fluorimetry; HGMD; Human Gene Mutation Database; HTS; high-throughput screening; iPSCs; induced pluripotent stem cells; MMA; methylmalonic aciduria; MUT; meth

دانلود رایگان متن کامل مقاله ISI 35 صفحه سال انتشار : 2018 سفارش ترجمه

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia

Keywords: CHM; choroideremia; RPE; retinal pigment epithelium; REP-1; Rab escort protein-1; VA; visual acuity; OCT; optical coherence tomography; GGTase; geranylgeranyltransferase; ONL; outer nuclear layer; INL; inner nuclear layer; LCHADD; long-chain 3-hydroxyacyl

دانلود رایگان متن کامل مقاله ISI 47 صفحه سال انتشار : 2018 سفارش ترجمه

The effects of structure on pre-mRNA processing and stability

Keywords: MFE; minimum free energy; DP; dynamic programming; MEA; maximum expected accuracy; RBP; RNA-binding protein; U2AF2; U2 Small Nuclear RNA Auxiliary Factor 2; HLA; Human Leukocyte Antigen; SNP; single nucleotide polymorphism; HGMD; Human Gene Mutation Datab

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

Keywords: ACMG; American College of Medical Genetics and Genomics; bp; base pair; CNV; copy number variation; HGMD; Human Gene Mutation Database; NGS; next-generation sequencing; OMIM; Online Mendelian Inheritance in Man; WES; whole-exome sequencing; WGS; whole-gen

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2017 سفارش ترجمه

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Keywords: MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2017 سفارش ترجمه

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

Keywords: 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

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Keywords: Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2017 سفارش ترجمه

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Keywords: ARSB; Arylsulfatase B; HGMD; human gene mutation database; MPS; mucopolysaccharidoses; LSD; lysosomal storage disorders; DS; dermatan sulfate; Molecular analysis; Mucopolysaccharidoses type VI; Novel mutation; Functional characterization; Pathogenic varia

دانلود رایگان متن کامل مقاله ISI 35 صفحه سال انتشار : 2017 سفارش ترجمه

Red blood cell PK deficiency: An update of PK-LR gene mutation database

Keywords: PK-LR; pyruvate kinase liver and red blood cells; PK-M; pyruvate kinase muscle; CNSHA; chronic nonspherocytic hemolytic anemia; RBCs; red blood cells; LOVD; Leiden Open Variants Database; HGMD; Human Gene Mutation Database; Pyruvate kinase; hemolysis; PK-

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome

Keywords: CHD; chromodomain helicase DNA-binding; PGM; personal genome machine; HGMD; Human Gene Mutation Database; PTC; premature termination codon; NMD; nonsense mediated decay; CHARGE syndrome; CHD7; Novel mutation;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Keywords: AASA; α-aminoadipic semialdehyde; ATQ; antiquitin; HGMD; Human Genome Mutation Database; IPTG; isoproplythiogalactoside; P6C; Δ1-piperideine-6-carboxlylate; PDB; Protein Data Base; PDE; pyridoxine dependent epilepsy; PLP; pyridoxal phosphate; SDS-PAGE;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum

Keywords: ASD; atrial septal defect; AVSD; atrioventricular septal defect; CHD; congenital heart defect; Cx43; connexin 43; EVS; exome variant server; FISH; fluorescent in situ hybridization; GJA1; gap junction alpha 1 gene; GJPA1; gap junction alpha 1 pseudogene;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

Keywords: ALOX5AP; 5-lipoxygenase gene; SNP; single nucleotide polymorphism; HGMD; human genome mutation database; ALOX5AP; Mutations; SNPs; Splicing; Stroke;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C

Keywords: NPC; Niemann-Pick type C; NPC1; NPC1 gene; NPC2; NPC2 gene; SMPD1; sphingomyelin phosphodiesterase 1 gene; LDL; low density lipoprotein; HGMD; The Human Gene Mutation Database; ALS; amyotrophic lateral sclerosis; DTR; deep tendon reflex; MRI; magnetic r

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Keywords: AASA; α-aminoadipic semialdehyde; ATQ; antiquitin; HGMD; Human Genome Mutation Database; IPTG; isopropylthiogalactoside; P6C; Δ1-piperideine 6-carboxylate; PDE; pyridoxine dependent epilepsy; PLP; pyridoxal phosphate; Metabolic epilepsy; Pyridoxine; Mis

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Advances in carcinogenesis: A historical perspective from observational studies to tumor genome sequencing and TP53 mutation spectrum analysis

Keywords: 6,4-PPs; pyrimidine(6-4)pyrimidone photoproducts; AK; Actinic Keratosis; BaP; benzo(a)pyrene; BPDE; benzo(a)pyrene diol epoxide; BCC; Basal cell carcinoma; CPD; cyclobutane pyrimidine dimers; CRC; colorectal carcinoma; ER; estrogen receptor; ERG; ETS re

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2011 سفارش ترجمه

Novel Findings in Swedish Patients With MYH-Associated Polyposis: Mutation Detection and Clinical Characterization

Keywords: AFAP; attenuated familial adenomatous polyposis; APC; adenomatous polyposis coli; BER; base-excision repair; CI; confidence interval; CRC; colorectal cancer; D-HPLC; denaturing high-performance liquid chromatography; FAP; familial adenomatous polyposis; H

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه