دانلود مقالات ISI درباره Omim + ترجمه فارسی

Hypoglycosylation of dystroglycan due to T192M mutation: A molecular insight behind the fact

Keywords: MD; muscular dystrophy; DG; dystroglycan; MDDGC9; muscular dystrophy dystroglycanopathy of limb girdle, type C; OMIM; online mendelian inheritance in man; α-DG; alpha dystroglycan; β-DG; beta dystroglycan; DGC; dystrophin dystroglycan complex; ECM; extr

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

H syndrome: The first 79 patients

Keywords: genodermatosis; H syndrome; histiocytosis; hyperpigmentation; SLC29A3; FHS; familial histiocytosis syndrome; IDDM; insulin-dependent diabetes mellitus; OMIM; online Mendelian inheritance in man; PHID; pigmented hypertrichosis with insulin-dependent diabet

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Short Communication6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

Keywords: aCGH; array comparative genomic hybridization; OMIM; Online Mendelian Inheritance in Man; CCD; cleidocranial dysplasia; QF-PCR; quantitative fluorescent polymerase chain reaction; BAC; bacterial artificial chromosome; FISH; fluorescence in situ hybridizat

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Absence of nasal bone and brachydactyly: A probable new familial syndrome

Keywords: OMIM; Online Mendelian Inheritance in Man; CT; Computed Tomography; CGH; Comparative Genomic Hybridization; HOXD13; Homeobox D13; CNVs; Copy Number Variations; FND1; Frontonasal Dysplasia-1; GCM syndrome; Gorlin-Chaudhry-Moss syndrome; Brachydactyly; Nasa

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Short CommunicationInv21p12q22del21q22 and intellectual disability

Keywords: Array CGH; array comparative genomic hybridization; CNVs; copy number variants; DS; Down syndrome; FISH; fluorescence in situ hybridization; ID; intellectual disability; MLPA; multiplex-ligation probe amplification; OMIM; Online Mendelian Inheritance in M

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

Short CommunicationChromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review

Keywords: aCGH; array comparative genomic hybridization; OMIM; Online Mendelian Inheritance in Man; DGS; DiGeorge syndrome; VCFS; velocardiofacial syndrome; del; deletion; MLPA; multiplex ligation-dependent probe amplification; VSD; ventricular septal defect; FISH;

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

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)

Keywords: aCGH; array comparative genomic hybridization; OMIM; Online Mendelian Inheritance in Man; QF-PCR; quantitative fluorescent polymerase chain reaction; WHS; Wolf-Hirschhorn syndrome; del; deletion; FISH; fluorescence in situ hybridization; BAC; bacterial ar

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

Association of serotonin transporter gene (SLC6A4) polymorphisms with schizophrenia susceptibility and symptoms in a Chinese-Han population

Keywords: SZ; schizophrenia; SLC6A4; solute carrier family 6 member 4; SNP; single nucleotide polymorphism; OR; odds ratio; CI; confidence interval; OMIM; Online Mendelian Inheritance in Man; DSM-IV; Diagnostic and Statistical Manual of Mental Disorders-Fourth Edit

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

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

Keywords: 18q deletion syndrome; 18q − syndrome; Array CGH; array comparative genomic hybridization; CNS; central nervous system; CAA; congenital aural atresia; FISH; fluorescence in situ hybridization; UCSC; genome browser hosted by the University of California

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: Prenatal diagnosis and aCGH characterization

Keywords: aCGH; array comparative genomic hybridization; NT; nuchal translucency; del; deletion; MoM; multiples of the median; β-hCG; β-human chorionic gonadotropin; dn; de novo; PAPP-A; pregnancy-associated plasma protein-A; der; derivative chromosome; dup; dupl

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature

Keywords: FISH; fluorescence in situ hybridization array; CGH; array comparative genomic hybridization; Kb; kilo base; Mb; mega base; CIH; congenital inguinal hernia; PHA; phytohemagglutinin; ISCN 2009; International System for Human Cytogenetic Nomenclature (2009)

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

Keywords: A4GNT; alpha-1,4-N-acetylglucosaminyltransferase; AGTR1; angiotensin II receptor, type 1; ATR; ataxia telangiectasia and Rad3 related; BAC; bacterial artificial chromosome; BFSP2; beaded filament structural protein 2; BPES; blepharophimosis, ptosis, and e

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

Keywords: MDLS; Miller-Dieker lissencephaly syndrome; OMIM; Online Mendelian Inheritance in Man; CNS; central nervous system; IUGR; intrauterine growth restriction; del; deletion; MRI; magnetic resonance imaging; aCGH; array comparative genomic hybridization; FIS

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

D. melanogaster, mitochondria and neurodegeneration: small model organism, big discoveries

Keywords: AD; Alzeheimer's disease; ADOA; Autosomal dominant optic atrophy; AP; Amyloid plaque; APP; Amyloid precursor protein; Aβ; Amino acids amyloid β-peptides; CaMKIIa; Calcium/calmodulin dependent protein kinase II alpha; CMTIIa; Charcot-Marie-Tooth type

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

Keywords: MPS; Mucopolysaccharidosis; GAG; Glycosaminoglycan; MV; mitral valve; MR; mitral regurgitation; GUSB; β-glucuronidase; OMIM; Online Mendelian Inheritance in Man; HSCT; hematopoietic stem cell transplantation; ERT; enzyme replacement therapy; IV; Intraven

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data

Keywords: ADNFLE; autosomal dominant nocturnal frontal lobe epilepsy; epiGAD; Epilepsy Genetic Association Database; ECM; extracellular matrix; GWAS; genome-wide association study; KEGG; Kyoto Encyclopedia of Genes and Genomes; LD; linkage disequilibrium; MTLE; mes

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

Cohesin: Functions beyond sister chromatid cohesion

Keywords: DSB; double-strand break; SPB; spindle pole body; SCC; sister chromatid cohesion; SC; synaptonemal complex; AE; axial element; LE; lateral element; CE; central element; CdLS; Cornelia de Lange syndrome; RBS; Roberts syndrome; CTCF; CCCTC binding factor; M

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2013 سفارش ترجمه

Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies

Keywords: ACA; adrenal cortex antibodies; ACTH; adrenocorticotropic hormone; AIH; autoimmune hepatitis; AIRE; autoimmune regulator; AMA; anti-mitochondrial antibodies; ANA; anti-nuclear antibodies; ANCA; anti-neutrophil cytoplasmic antibodies; APECED; autoimmune po

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

Association between FTO 1st intron tagging variant and telomere length in middle aged females. 3PMFs study

Keywords: CVD; cardiovascular diseases; FTO; fat mass and obesity associated; BMI; body mass index; 3PMFs; the Prague Pre and Post Menopausal Females study; EDTA; ethylenediaminetetraacetic acid; PCR; polymerase chain reaction; RFLP; restriction fragment length pol

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

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly

Keywords: OMIM; Online Mendelian Inheritance in Man; SPD; synpolydactyly; SD; syndactyly; HOX; homeobox; HOXD13; homeobox D13; SNP; single-nucleotide polymorphism; dNTP; deoxy-ribonucleoside triphosphate; Ala; alanine; Leu; leucine; Gly; glycine; Synpolydactyly; HO

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

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome

Keywords: RSTS; Rubinstein-Taybi syndrome; OMIM; Online Mendelian inheritance in man; CREBBP; CREB binding protein; EP300; E1A binding protein p300; CGH; comparative genomic hybridization; PCR; polymerase chain reaction; Cy3-dUTP; deoxyuridine 5′-triphosphate c

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

Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Keywords: CGH; comparative genomic hybridization; PITX1; paired-like homeodomain transcription factor 1; PDA; patent ductus arteriosus; BPD; bronchopulmonary dysplasia; KCNN2; small conductance calcium-activated potassium channel protein 2; SPOCK1; sparc/osteonecti

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

Association between rs4673 (C/T) and rs13306294 (A/G) haplotypes of NAD(P)H oxidase p22phox gene and severity of stenosis in coronary arteries

Keywords: ARMS; amplification refractory mutation system; BMI; body mass index; CAD; coronary artery disease; CYBA; cytochrome b alpha; EDTA; ethylenediaminetetraacetic acid; His; histidine; HGNC; HUGO Gene Nomenclature Committee; LDL; low density lipoprotein; MSA;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias

Keywords: OMIM; Online Mendelian Inheritance in Man;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

Keywords: Nav1.2; voltage-gated Na+ channel; SCN2A; gene, voltage-gated Na+ channel Nav1.2; SMEI; severe myoclonic epilepsy in infancy; GEFS +; genetic epilepsy with febrile seizures, plus; BFNIS; benign familial neonatal-infantile seizures; OMIM; Online Mendeli

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene

Keywords: SIFT; Sorting Intolerant from Tolerant; Polyphen; Phenotype Polymorphism; CFC; Cardio-Facio-Cutaneous; SNP; Single Nucleotide Polymorphism; nsSNP; Nonsynonymous Polymorphism; OMIM; Online Mendelian Inheritance in Man; ANOLEA; Atomic Non-Local Environment

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

Keywords: ARSB; Arylsulfatase B gene; ARSB; Arylsulfatase B protein (also known as N-acetylgalactosamine 4-sulfatase); CCC; Cervical cord compression; CPAP; Continuous positive airway pressure; C1 or C2; Cervical vertebra 1 or cervical vertebra 2, atlantoaxial join

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2012 سفارش ترجمه

Genetic Approach to Evaluation of Hearing Loss

Keywords: Genetics; Hearing loss; Inheritance; Syndromic; Non syndromic; OMIM; Gene reviews;

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2012 سفارش ترجمه

Large contiguous gene deletions in Sjögren-Larsson syndrome

Keywords: CGH; comparative genomic hybridization; FALDH; fatty aldehyde dehydrogenase; FISH; fluorescence in situ hybridization; LDI-PCR; long distance inverse-PCR; OMIM; Online Mendalian Inheritance in Man; SLS; Sjögren-Larsson syndrome; SMS; Smith-Magenis sy

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Research ArticleGenetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease

Keywords: ATPase7B (ATP7B); Copper; Genotype; Homocysteine; 5,10-Methylenetetrahydrofolate reductase (MTHFR); Phenotype; Polymorphism; Wilson's disease; WND; Wilson's disease; OMIM; Online Mendelian Inheritance in Man; Cu; copper; ATP7B; ATP-ase 7B; ApoE; apoli

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2011 سفارش ترجمه

Glucagon-like peptide-1 receptor gene polymorphism (Leu260Phe) is associated with morning cortisol in preschoolers

Keywords: CRF; corticotrophin releasing factor; DELFIA; dissociation-enhanced lanthanide fluorescent immunoassay; GLP-1; glucagon-like peptide-1; GLP-1R; glucagon-like peptide-1 receptor; HPA; hypothalamic-pituitary-adrenal; OMIM; online Mendelian inheritance i

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2010 سفارش ترجمه

LUMBAR: Association between Cutaneous Infantile Hemangiomas of the Lower Body and Regional Congenital Anomalies

Keywords: IH; Infantile hemangioma; MG; Minimal growth; MRA; Magnetic resonance angiography; MRI; Magnetic resonance imaging; MRV; Magnetic resonance venography; OMIM; Online Mendelian Inheritance in Man database;

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2010 سفارش ترجمه

Modularity in the genetic disease-phenotype network

Keywords: OMIM; Online Mendelian Inheritance in Man; FDA; Food and Drug Administration; MSC; module-specific coefficient; Modularity; Phenotype/genotype relation; Classification; Systems biology;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease

Keywords: AE; Adverse event; αGal; α-Galactosidase A; BMI; Body mass index; ECG; Electrocardiography, electrocardiogram; ELISA; Enzyme-linked immunoadsorbent assay; ERT; Enzyme replacement therapy; IAR; Infusion-associated reaction; IV; Intravenous; GFR; Glomerul

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia

Keywords: OMIM; Online Mendelian Inheritance in Man; cM; centimorgan; LOD; logarithm of the odds; HBT; hereditary benign telangiectasia; PCR; polymerase chain reaction; GTP; guanosine triphosphate; GDP; guanosine diphosphate;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2007 سفارش ترجمه

Relationship Between Age-Related Macular Degeneration-Associated Variants of Complement Factor H and LOC387715 With Coronary Artery Disease

Keywords: AMD; age-related macular degeneration; CAD; coronary artery disease; CFH; complement factor H; CI; confidence interval; CRP; C-reactive protein; HDL; high-density lipoprotein; LDL; low-density lipoprotein; OMIM; Online Mendelian Inheritance in Man; OR; od

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2007 سفارش ترجمه

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Keywords: Human ORFeome; Gateway system; Clone resource; MGC collection; Nucleotide substitution rate; OMIM; GO slim; visant; hORFDB; High-throughput cloning

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2007 سفارش ترجمه

Meta-analysis of microarray-derived data from PACAP-deficient adrenal gland in vivo and PACAP-treated chromaffin cells identifies distinct classes of PACAP-regulated genes

Keywords: ACh; acetylcholine; BCC; bovine chromaffin cells; BDNF; brain-derived neurotrophic factor; BMAP1/2; Brain Molecular Anatomy Project clone sets 1 and 2; BMPR2; bone morphogenic protein receptor, type II (serine/threonine kinase); Btg2; B-cell translocation

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2007 سفارش ترجمه

Magnetic resonance spectroscopy in ionic liquids

Keywords: Ionic liquids; Molten salts; NMR; EPR; Structure; Mechanisms; ARING; acoustic ringing (cancellation pulse sequence); bmim; 1-butyl-3-methylimidazolium; bmmim; 1-butyl-2,3-dimethylimidazolium; bmpy; 1-butyl-4-methylpyridinium; bpy; N-butylpyridinium; CAT-1

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2007 سفارش ترجمه

Hereditary Fructose Intolerance and Celiac Disease: A Novel Genetic Association

Keywords: CD; celiac disease; EMA; antiendomysium antibodies; HFI; hereditary fructose intolerance; HLA; human leukocyte antigen; OMIM; Online Mendelian Inheritance in Man;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه

Proteomic resources: Integrating biomedical information in humans

Keywords: 2D; two dimensional; BIND; biomolecular interaction network database; CDART; conserved domain architecture retrieval tool; CDD; conserved domain database; CGAP; cancer genome anatomy project; DAS; distributed annotation system; DIGE; difference in gel ele

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2005 سفارش ترجمه

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata

Keywords: EDTA; ethylenediamine tetraacetic acid; FH/FH; fumarate hydratase gene/protein; FHD; fumarate hydratase deficiency; HLRCC; hereditary leiomyomatosis and renal cell cancer; MCL; multiple cutaneous and uterine leiomyomata syndrome; mRNA; messenger RNA; OMIM

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

Investigation of protein functions through data-mining on integrated human transcriptome database, H-Invitational database (H-InvDB)

Keywords: 3D; three dimensional; CAI; codon adaptation index; CDS; coding sequences; CHGC; Chinese National Human Genome Center; DDBJ; DNA Data Bank of Japan; DKFZ; Deutsches Krebsforschungszentrum Heidelberg; EMBL; The European Molecular Biology Laboratory; EST; e

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2005 سفارش ترجمه

Heredofamilial Brain Calcinosis Syndrome

Keywords: AHO; Albright hereditary osteodystrophy; APS; autoimmune polyglandular syndrome; BCS; brain calcinosis syndrome; COFS; cerebrooculo-facio-skeletal; CS; Cockayne syndrome; CT; computed tomography; DHPR; dihydropteridine reductase; GALC; galactocerebrosidas

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2005 سفارش ترجمه

Hemochromatosis: Genetic Testing and Clinical Practice

Keywords: CT; computed tomography; DMT1; divalent metal transporter 1; MRI; magnetic resonance imaging; OMIM; online Mendelian inheritance in man; TfR2; transferrin receptor 2;

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2005 سفارش ترجمه