دانلود مقالات ISI درباره حذف + ترجمه فارسی

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

Keywords: حذف; ASDs, autism spectrum disorders; CNV, copy number variation; ID, intellectual disability; PDD-NOS, pervasive developmental disorder not otherwise specifiedAutism; Intellectual disability; Mutation; Copy number variation; Deletion; Duplication

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2011 سفارش ترجمه

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay

Keywords: حذف; Deletion; 11q13-q14; Developmental delay; Microcephaly;

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

Copy Number Variation in Schizophrenia in the Japanese Population

Keywords: حذف; Deletion; duplication; NRXN1; 16p13.1; 1q21.1; schizophrenia

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

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2→q24.3 in a girl with autistic features and developmental delay

Keywords: حذف; Array-CGH; 2q24.2; 2q24.3; Deletion; Autism; SCN2A; SCN3A

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

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

Keywords: حذف; MLPA; Noonan syndrome; Mutation; RAS-MAPK; Duplication; Deletion

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

Keywords: حذف; Sanfilippo; Mucopolysaccharidosis; NAGLU; Deletion; Alu-mediated recombination;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Low level of the mtDNA4977 deletion in blood of exceptionally old individuals

Keywords: حذف; Mitochondrial DNA; Deletion; dmtDNA4977; Blood; Centenarians; Human longevity; Ageing

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Inactivation of a functional HLA-A gene: A 4-kb deletion turns HLA-A*24 into a pseudogene

Keywords: حذف; HLA-A; Deletion; Pseudogene; MHC class I; HLA-A*24 null

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

Keywords: حذف; PLA2G6; PLAN; Duplication; Deletion; MLPA; ARMD;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

Keywords: حذف; Generalized progressive retinal atrophy; Irish Glen of Imaal Terrier; ADAM9 gene; Deletion; Mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice

Keywords: حذف; BLM; Mutation; Hprt; Deletion

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

Interpreting aCGH-defined karyotypic changes in gliomas using copy number status, loss of heterozygosity and allelic ratios

Keywords: حذف; CGH; Glioma; Amplification; Deletion; Copy number

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

p16INK4A inactivation mechanisms in non-small-cell lung cancer patients occupationally exposed to asbestos

Keywords: حذف; Lung cancer; Asbestos; Occupation; Tobacco smoking; P16/CDKN2A; INK4A; Deletion; Hypermethylation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Complicated biallelic inactivation of Pten in radiation-induced mouse thymic lymphomas

Keywords: حذف; Pten; Thymic lymphoma; Epigenetic silencing; Mutation; Deletion; Radiation

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

A stochastic evolution model for residue Insertion–Deletion Independent from Substitution

Keywords: حذف; Gene evolution; Stochastic model; Analytical solutions; Substitution; Insertion; Deletion; Time and sequence length; Occurrence probability; Nucleotides

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

CPEO and KSS differ in the percentage and location of the mtDNA deletion

Keywords: حذف; CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns–sayre syndrome; PS, pearson syndrome; mtDNA, mitochondrial DNA; SLSMD, single large-scale mtDNA DeletionmtDNA; Deletion; CPEO; KSS; PS

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia

Keywords: حذف; Chromosome 14; Deletion; FISH; Corpus callosum hypoplasia

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception

Keywords: حذف; De novo loss; Inversion; Deletion; Insertion; SNP array; FISH; CNR1 gene

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

Mutation in gap and tight junctions in patients with non-syndromic hearing loss

Keywords: حذف; Hearing impairment; Gap junction; Tight junction; Mutation; Deletion; Polymorphism; Heterozygous state; Consanguineous population; Coincidental carrier; Genetic diagnosis

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

Keywords: حذف; Deafness; GJB2; Connexin 26; Hearing impairment; DFNB1; V84M; GJB6; Deletion

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

The importance of an extra loop in the B-domain of an α-amylase from B. stearothermophilus US100

Keywords: حذف; α-Amylase; Mutagenesis; Bacillus stearothermophilus; Deletion; Thermostability; Loop; B-domain

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis

Keywords: حذف; Connexin; Hearing loss; GJB6; Digenic; Deletion; GJB2 expression

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide

Keywords: حذف; Frontotemporal dementia; Corticobasal syndrome; Progressive supranuclear palsy; Motorneuron disease; PGRN; MAPT haplotype; Deletion; Mutation prevalence; Mutation penetrance

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report

Keywords: حذف; Multiplex ligation-dependent probe amplification (MLPA); CYP21A2; CAH diagnosis; Duplication; Deletion

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Role of Parp-1 in suppressing spontaneous deletion mutation in the liver and brain of mice at adolescence and advanced age

Keywords: حذف; Parp-1; Mutation; Deletion; gpt delta; Aging

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2009 سفارش ترجمه

Non-virulence of a recombinant shrimp nidovirus is associated with its non structural gene sequence and not a large structural gene deletion

Keywords: حذف; Penaeus monodon; Yellow head virus; YHV; Virulence; Deletion; Gp116; Recombinant; Monodon slow growth syndrome; MSGS

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2009 سفارش ترجمه

Nucleotide diversity and minisatellite in chloroplast Asp(GUC)-Thr(GGU) region in Elymus trachycaulus complex, Elymus alaskanus and Elymus caninus

Keywords: حذف; Elymus; Chloroplast trnT-D; Insertion; Deletion; Minisatellite;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2009 سفارش ترجمه

Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies

Keywords: حذف; Cystathionine γ-lyase; Cystathioninuria; Hypercystathioninemia; Mutations; Deletion

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2009 سفارش ترجمه

Effect of deletion of a plant like pentapeptide insert on kinetic, structural and immunological properties of enolase from Plasmodium falciparum

Keywords: حذف; Plasmodium falciparum enolase; Pentapeptide insert; Deletion; Oligomeric structure; Immunogenic epitope

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2009 سفارش ترجمه

A 2-base pair deletion polymorphism in the partial duplication of the α7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia

Keywords: حذف; Nicotinic acetylcholine receptor; CHRFAM7A; CHRNA7; Association study; Deletion; Schizophrenia; Duplication; P50

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2009 سفارش ترجمه

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Keywords: حذف; Autism; chromosome 15; deletion; duplication; Angelman syndrome; MLPA;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2009 سفارش ترجمه

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome

Keywords: حذف; KS; Kindler syndrome; EM; electron microscopy; IIF; indirect immunofluorescence; DEJZ; dermal-epidermal junction zone; UTR; untranslated region; FERM; four point one ezrin radixin and moesin; PH; pleckstrin homology; Blister; Kindlin-1; Kindler syndrome

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India

Keywords: حذف; Duchenne muscular dystrophy; Microsatellite; Deletion;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

DNA analysis of family members with deletion in Yp11.2 region containing amelogenin locus

Keywords: حذف; Sex test; Amelogenin; DYS458; Y chromosome; Deletion

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions

Keywords: حذف; Meiotic recombinants; Pericentric inversions; Fluorescence in situ hybridization (FISH); Multiple ligation-dependent probe amplification (MLPA); Deletion; Duplication

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

Keywords: حذف; Fabry disease; MLPA; Deletion; GLA; Screening; Female carrier; X inactivation; Renal failure; α-Galactosidase A

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Keywords: حذف; Progranulin; Deletion; Frontotemporal lobar degeneration; Parkinson disease

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

Genetics of Lesch's typology of alcoholism

Keywords: حذف; bp; Base pair; CIWA; Clinical Institute Withdrawal Assessment for Alcohol; COMT; Catechol-O-methyltransferase; DAT; Dopamine transporter; del; Deletion; DRD2; dopamine D2 receptor; 5HTT; Serotonin (5-HT) transporter; HVA; Homovanillic acid; HWE; Hardy-W

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

Quantitative analysis of the 4977-bp common deletion of mitochondrial DNA in postmortem frontal cortex from patients with bipolar disorder and schizophrenia

Keywords: حذف; Aging; Bipolar disorder; Deletion; Frontal cortex; Mitochondrial DNA; Schizophrenia

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

A spontaneous direct repeat deletion in the pGEX fusion vector decreases the expression level of recombinant proteins in Escherichia coli

Keywords: حذف; pGEX-4T-2; Deletion; Direct repeat sequences; Glutathione S-transferase; β-Galactosidase; Promoter

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma

Keywords: حذف; Neuroblastoma; 1p36; Deletion; Duplication; Mental retardation; Array CGH; aGH; MLPA; CHD5; AJAP1

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

Mutations in the hairless gene underlie APL in three families of Pakistani origin

Keywords: حذف; Missense mutation; Deletion; Hairless gene; Atrichia with papular lesions; Autosomal recessive; Alopecia; Hairless

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

Two new large deletions in the low density lipoprotein receptor (LDLR) gene not revealed by PCR-based molecular diagnosis of familial hypercholesterolemia

Keywords: حذف; Deletion; LDL receptor; Familial hypercholesterolemia; Mutation;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

A 8.26 Mb deletion in 6q16 and a 4.95 Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome

Keywords: حذف; Alagille syndrome; Wolff–Parkinson–White syndrome; BMP2; JAG1; 20p; Ventricular preexcitation; Deletion; Array CGH; aCGH

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Motor pattern deletions and modular organization of turtle spinal cord

Keywords: حذف; Central pattern generator; Deletion; Fictive motor pattern; Module; Scratch reflex; Spinal cordCPG, central pattern generator; EIN, excitatory interneuron; ENG, electroneurogram; EPSP, excitatory postsynaptic potential; IIN, inhibitory interneuron; IPSP,

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Detection of ATM gene deletion/duplication by multiplex ligation-dependant probe amplification in childhood lymphoid malignancies: A report from the Children's Oncology Group

Keywords: حذف; Leukemia; Lymphoma; Child; MLPA; ATM gene; Deletion; Duplication

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

An old bilbo-like non-LTR retroelement insertion provides insight into the relationship of species of the virilis group

Keywords: حذف; LTR; Long terminal repeats; Mya; million years ago; bp; base pair; kb; kilobase pairs; nt; nucleotide; ORF; open reading frame; TE; transposable element; Phylogeny; Xc inversion; Drosophila Americana; Deletion;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

Keywords: حذف; Mitochondria; Mitochondrial encephalomyopathy; Polymerase gamma; Mitochondrial DNA; Deletion; Depletion;

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

A deletion in the R region of long terminal repeats in small ruminant lentiviruses is associated with decreased pathology in the lung

Keywords: حذف; SRLV; MVV; LTR; Deletion; Productive infection

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2008 سفارش ترجمه

Distinctive differences in DNA double-strand break repair between normal urothelial and urothelial carcinoma cells

Keywords: حذف; NHEJ; Microhomology-mediated end-joining (MMEJ); Microhomology; Urothelial cancer; Deletion; Processing

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2008 سفارش ترجمه