دانلود مقالات ISI درباره حذف + ترجمه فارسی

Development of a comprehensive real-time PCR assay for dystrophin gene analysis and prenatal diagnosis of Chinese families

Keywords: حذف; Carrier detection; Duchenne muscular dystrophy; Deletion; Duplication; Prenatal diagnosis; Real-time PCR;

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

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Keywords: حذف; DSD; Disorders of sexual development; GTG banding; G-banding using Trypsin and Giemsa; NOR; Nuclear organizing regions; FISH; Fluorescence in situ hybridization; WCP; Whole chromosome paint; STR; Short tandem repeats; BAC; Bacterial artificial chromosome;

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

Prevention of Atrial Fibrillation by Bucindolol Is Dependent on the Beta1389 Arg/Gly Adrenergic Receptor Polymorphism

Keywords: حذف; arrhythmia; beta adrenergic receptors; genetics; heart failure; norepinephrine; AF; atrial fibrillation; AR; adrenergic receptor; Arg/Arg; arginine homozygote; Del; deletion; HFREF; heart failure with reduced left ventricular ejection fraction; HR; hazard

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: حذف; 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

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

Keywords: حذف; 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

Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Keywords: حذف; Nebulin; NEB; Array comparative genomic hybridization (aCGH); NM-CGH; Copy number variation; Deletion; Nemaline myopathy;

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

Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism

Keywords: حذف; Thyroglobulin gene; Mutation; Inversion; Deletion; Congenital hypothyroidism;

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

Autosomal insertional translocation mimicking an X-linked mode of inheritance

Keywords: حذف; Mental retardation; X-linked intellectual disability; Insertion; Deletion; Duplication; ZFPM2

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

Gene-based copy number variation study reveals a microdeletion at 12q24 that influences height in the Korean population

Keywords: حذف; Copy number variation; Height; Genome-wide association study; Structural variation; Deletion

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

Dichotomy in the anxiolytic versus antidepressant effect of C-terminal truncation of the GluN2A subunit of NMDA receptors

Keywords: حذف; NMDA receptors; GluN2A; Intracellular signalling; Deletion; Anxiety; Depression

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

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria

Keywords: حذف; Pediatric epilepsy; IGE; Epilepsy syndrome; CNV; 15q13.3; Deletion;

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

Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in hu

Keywords: حذف; MLPA; HEXB; GM2A; SMARCAL1; Deletion; Insertion

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

Detection of a novel large deletion causing α-thalassemia in South China

Keywords: حذف; α-Thalassemia; α-globin gene; Deletion; Multiplex ligation-dependent probe amplification; Real-time PCR; Molecular diagnosis

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

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

Keywords: حذف; Intellectual disability; SOX5; Deletion; Microarray

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

Molecular characterisation of the Hyp deletion and an improved assay for its detection

Keywords: حذف; XLH, X-linked hypophosphataemia; WT, wild-type; MMEJ, microhomology-mediated end joining; DSB, double strand breakX-linked hypophosphataemia; Hyp mouse; Deletion

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

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family

Keywords: حذف; bp; basepairs; CTNS; cystinosin; kb; kilobases or 1000 bp; MLPA; multiplex ligation-dependent probe amplification; PCR; polymerase chain reaction; RS-values; relative signal values; UTR; untranslated region; Copy number; CTNS; Cystinosis; Deletion; MLPA;

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

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Keywords: حذف; Rett syndrome; Congenital variant; MECP2; Deletion; MLPA

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

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

Keywords: حذف; BEPS; Translocation; Deletion; Chromosome 3; FOXL2;

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

Deletion of an ATP-binding cassette protein subfamily C transporter in Leishmania donovani results in increased virulence

Keywords: حذف; Leishmania donovani; ABCC9; ABC transporter gene; Deletion; Hypervirulence; Differentially distributed genes;

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

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

Keywords: حذف; Angelman; Deletion; Uniparental disomy; Imprinting defects; EEG abnormalities; UBE3A mutation; Prader-Willi; Chromosome 15; Rhythmic theta; Rhythmic delta;

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

Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings

Keywords: حذف; A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; C‐terminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th

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

ACE Gene Insertion/Deletion Polymorphism Seminal Associations in Infertile Men

Keywords: حذف; testis; infertility; male; spermatozoa; peptidyl-dipeptidase A; oxidative stress; ACE; angiotensin-converting enzyme; AT1; angiotensin II receptor type I; D; deletion; HOS; hypo-osmotic swelling; I; insertion; OAT; oligoasthenoteratozoospermia; PCR; polym

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

Viral deletions among healthy young Chinese adults with occult hepatitis B virus infection

Keywords: حذف; Hepatitis B virus; Occult infection; Deletion;

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

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

Keywords: حذف; Amyotrophic lateral sclerosis; Optineurin; Deletion; Alu-mediated recombination;

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

Rapp-Hodgkin syndrome and SHFM1 patients: Delineating the p63-Dlx5/Dlx6 pathway

Keywords: حذف; TP63; tumor protein p63; DLX; distal-less homeobox; AER; apical ectodermal ridge; DBD; DNA-binding domain; ISO; isomerization; TA; transactivation; SAM; sterile alpha motif; TI; transactivation inhibitory; EEC; ectrodactyly-ectodermal dysplasia-cleft

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

Evaluation of PAX5 gene in the early stages of leukemic B cells in the childhood B cell acute lymphoblastic leukemia

Keywords: حذف; B lymphocytes; Acute leukemia; PAX5 expression; Mutation; Deletion

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

Síndromes de Prader-Willi y de Angelman. Expriencia de 21 años

Keywords: حذف; Impronta genómica; Deleción; Disomía uniparental; Consejo genético; Metilación; Genomic imprinting; Deletion; Uniparental dysomy; Genetic counselling; Methylation;

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

Different mutation profiles associated to P53 accumulation in colorectal cancer

Keywords: حذف; Δ; Deletion; 5mC; 5′methylcytosine; A; Adenosine; Ab; Antibody; APC; Adenomatous polyposis coli gene; C; Cytidine; cDNA; DNA complementary to RNA; CRC; Colorectal Cancer; DAB; 3,3′ diaminobenzidinetrahydrochloride; DBD; DNA-Binding Domain; dNTP; deox

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

Mutagenic effects of carbon ions near the range end in plants

Keywords: حذف; Arabidopsis; Ion beams; Mutation; Deletion

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

Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements

Keywords: حذف; 10q; aCGH; deletion; FISH; inv dup del(10q); inverted duplication

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Genetics of Erectile Dysfunction

Keywords: حذف; penis; erectile dysfunction; genetics; genome; ethnology; ACE; angiotensin converting enzyme; Ang; angiotensin; CSMC; cavernous smooth muscle cell; D; deletion; ED; erectile dysfunction; eNOS; endothelial NOS; GWAS; genome wide association study; Hcy; hom

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia

Keywords: حذف; Schizophrenia; Copy number variation; Genetics; Deletion; Duplication; Rearrangement;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Truncated transcripts of nicotinic acetylcholine subunit gene Bdα6 are associated with spinosad resistance in Bactrocera dorsalis

Keywords: حذف; Spinosad; RNA editing; Bactrocera dorsalis; nAChRs; Insecticide resistance; Deletion

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

Mutations in the genome of the highly pathogenic porcine reproductive and respiratory syndrome virus potentially related to attenuation

Keywords: حذف; HP-PRRSV; Genetic variation; Attenuation; Deletion

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2012 سفارش ترجمه

Chromosomal imbalance letterDe novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

Keywords: حذف; Deletion; 2q24.2-24.3; Mental retardation; Hypotonia; Joint laxity;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

miR-101 DNA Copy Loss is a Prominent Subtype Specific Event in Lung Cancer

Keywords: حذف; Non-small cell lung cancer; miR-101; Deletion

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Two additional reports of deletion on the short arm of the Y chromosome

Keywords: حذف; Sex determination; Amelogenin; Deletion; STSs

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

PAX5 deletion is common and concurrently occurs with CDKN2A deletion in B-lineage acute lymphoblastic leukemia

Keywords: حذف; PAX5; Deletion; FISH; IHC

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Original articleBiparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

Keywords: حذف; Mental retardation; Translocation; Inversion; Deletion; Duplication; Biparental inheritance;

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

Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians

Keywords: حذف; Spinal muscular atrophy; Autosomal recessive; SMN1 gene; Deletion; Chromosome 5; Mutations

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

Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization

Keywords: حذف; 9p; Array comparative genomic hybridization; Deletion; FISH; Inverted duplication; inv dup del(9p)

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

Good response to pemetrexed in patients of lung adenocarcinoma with epidermal growth factor receptor (EGFR) mutations

Keywords: حذف; EGFR; epidermal growth factor receptor; TKI; tyrosine kinase inhibitor; NSCLC; non-small cell lung cancer; MPE; malignant pleural effusion; CXR; chest radiography; CT; computed tomography; MRI; magnetic resonance imaging; del; deletion; ins; insertion; Pe

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

Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients

Keywords: حذف; Candidate gene; copy number variation; cytogenetic abnormality; deletion; duplication; schizophrenia

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome : Clinical Relevance

Keywords: حذف; CNV; deletion; long QT syndrome; MLPA; sudden deathCGH, comparative genomic hybridization; CNV, copy number variant; dHPLC, denaturing high-performance liquid chromatography; ECG, electrocardiogram/eclectrocardiographic; ICD, implantable cardioverter-defi

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

A cryptic deletion in 5q31.2 provides further evidence for a minimally deleted region in myelodysplastic syndromes

Keywords: حذف; Myelodysplastic syndromes; EGR1; chromosome 5; deletion; common deleted region

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Keywords: حذف; HADHA gene; HADHB gene; Mitochondrial trifunctional protein; Nonsense mRNA mediated decay; Deletion; Acute fatty liver of pregnancy

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

A Comprehensive Analysis of p16 Expression, Gene Status, and Promoter Hypermethylation In Surgically Resected Non-small Cell Lung Carcinomas

Keywords: حذف; p16; Expression; Deletion; Hypermethylation; Non-small cell lung cancer

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2011 سفارش ترجمه

Establishment of a DNA-launched infectious clone for a highly pneumovirulent strain of type 2 porcine reproductive and respiratory syndrome virus: Identification and in vitro and in vivo characterization of a large spontaneous deletion in the nsp2 region

Keywords: حذف; Porcine reproductive and respiratory syndrome virus (PRRSV); Nonstructural protein 2 (nsp2); Virus replication; Pathogenicity; Deletion;

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

Phylogenetic utility and evolution of indels: A study in neognathous birds

Keywords: حذف; Bird; Indel; Insertion; Deletion; Phylogeny; Genomics;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2011 سفارش ترجمه

Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization

Keywords: حذف; Oligonucleotide microarray; Copy number alteration; Variant of unknown significance; Deletion; Duplication;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2011 سفارش ترجمه