دانلود مقالات ISI درباره Mlpa + ترجمه فارسی

Rearrangement in 22q11 implicated in Iranian patients with mental retardation

Keywords: Mental retardation; Chromosome 22; Microdeletion; Microduplication; Semi-quantitative multiplex PCR; MLPA

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

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene

Keywords: Phenylketonuria; PKU; PAH; Mutation analysis; MLPA; Large deletions

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

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

Keywords: SMA severity; SMN1; SMN2; NAIP; p44; H4F5; Occludin; Copy number; MLPA

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

Analysis of genomic alterations in neuroblastoma by multiplex ligation-dependent probe amplification and array comparative genomic hybridization: a comparison of results

Keywords: Multiplex ligation-dependent probe amplification; MLPA; array comparative genomic hybridization; aCGH; neuroblastoma

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

Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update

Keywords: ACE; Addenbrooke's Cognitive Examination; ASM; acid sphingomyelinase; ALAT; alanine aminotransferase; ASAT; aspartate aminotransferase; BARS; Brief Ataxia Rating Scale; BPRS; Brief Psychiatric Rating Scale; BSID; Bayley Scales for Infant Development; cDNA

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

DNA methylation-based biomarkers in serum of patients with breast cancer

Keywords: 5-Aza-CdR; 5-aza-2′-deoxycytidine; 5-Aza-CR; 5-azacytidine; 5mC; 5-methylcytidine; AIMS; amplification of inter-methylated sites; APC; adenomatous polyposis coli; BiMP; bisulfite methylation profiling; BRCA1; breast cancer gene 1; BsPP; bisulfite padloc

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2012 سفارش ترجمه

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts

Keywords: Refractory anemia with ring sideroblasts; Methylation; MLPA; MSP; CDKN2B

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

De novo microduplication at 22q11.21 in a patient with VACTERL association

Keywords: VACTERL association; 22q11.21; Microduplication; MLPA; SNP array; Cat eye syndrome; Supernumerary der(22)

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

Correlation of Electromyogram and Muscle Biopsy in Myopathy of Young Age

Keywords: Biopsy; Electromyography; Muscles; Neuromuscular diseases; Rehabilitation; CI; confidence interval; DMD; Duchenne muscular dystrophy; EMG; electromyogram; MLPA; multiplex ligation-dependent probe amplification; TAA; turns/amplitude analysis;

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

Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion

Keywords: α-Gal A; α-galactosidase A; GL-3 or Gb3; globotriaosylceramide; ERT; enzyme replacement therapy; MLPA; Multiplex Ligation-dependent Probe Amplification; PCR; polymerase chain reaction; Fabry disease; Lysosomal storage disease; α-galactosidase A; Gene r

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

Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype

Keywords: CF; Cystic fibrosis; CFMD; Cystic Fibrosis Mutation Database; CFTR; Cystic fibrosis transmembrane conductance regulator; PCR; Polymerase chain reaction; STR; Short tandem repeat; MLPA; Multiplex Ligation-dependent Probe Assay;

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

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Keywords: FANCA; Breast cancer susceptibility; Candidate gene; Germline deletion; MLPA

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

Application of MLPA assay to characterize unsolved α-globin gene rearrangements

Keywords: α-thalassemia; Thalassemia intermedia; MLPA; Real-time PCR; SYBER Green

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

Rapid identification and characterization of Penicillium marneffei using multiplex ligation-dependent probe amplification (MLPA) in paraffin-embedded tissue samples

Keywords: Penicillium marneffei; Penicilliosis marneffei; Fungal infection; Multiplex ligation-dependent probe amplification; MLPA

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

Array-based resequencing for mutations causing familial hypercholesterolemia

Keywords: FH; familial hypercholesterolemia; PCR; polymerase chain reaction; MLPA; multiple ligation-dependent probe amplification; LDLR; low-density lipoprotein receptor; APOB; apolipoprotein B; PCSK9; proprotein convertase subtilisin/kexin type 9; Familial hyperc

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

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

Keywords: 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

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

Keywords: MLPA; Array-CGH; Congenital anomalies; Mental retardation; Submicroscopic imbalances; Chromosomal abnormalities;

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

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

Keywords: α-Galactosidase A; Cardiac Fabry disease; Fabry disease; GLA mutations; MLPA; Mutation analysis

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

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Keywords: 22q11DS; 22q11.2 deletion syndrome; aCGH; Array comparative genomic hybridization; FISH; Fluorescence in situ hybridization; LCR; Low copy repeat; MLPA; Multiplex ligation-dependent probe amplification;

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

DNA copy number profile discriminates between esophageal adenocarcinoma and squamous cell carcinoma and represents an independent prognostic parameter in esophageal adenocarcinoma

Keywords: Esophageal cancer; DNA copy number; MLPA; Esophageal adenocarcinoma; ADC; Esophageal squamous cell carcinoma; SCC

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

Multilocus phylogenetic analysis of the genus Aeromonas

Keywords: Multilocus; Phylogeny; MLPA; gyrB; rpoD; recA; dnaJ; gyrA; dnaX; atpD; Aeromonas

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه

Effects of Lactobacillus rhamnosus GG on saliva-derived microcosms

Keywords: Probiotic; MLPA; Real time PCR; Microcosms; Saliva; Demineralization

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

Current technologies for HER2 testing in breast cancer

Keywords: Breast cancer; CISH; FISH; HER2; MLPA; SISH

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2011 سفارش ترجمه

Identification of MET and SRC Activation in Melanoma Cell Lines Showing Primary Resistance to PLX4032

Keywords: AK; adenylate kinase; AKT; v-akt murine thymoma viral oncogene homolog; ANOVA; analysis of variance; BCRP; breast cancer resistance protein; BRAF; v-raf murine sarcoma viral oncogene homolog B1; CCND1; cyclin D1; CRAF; v-raf-1 murine leukemia viral oncoge

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2011 سفارش ترجمه

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

Keywords: MLPA; microduplication/microdeletion syndrome; Prenatal diagnosis; Chorionic villus sampling

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

Síndrome de Holt-Oram: descripción de 7 casos

Keywords: Síndrome Holt-Oram; Gen TBX5; Gen GLI3; MLPA; Holt-Oram syndrome; TBX5 Gene; GLI3 gene; MLPA;

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

Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?

Keywords: MLPA; Aneuploidies; Prenatal rapid testing; Miscarriages; Fetal karyotype

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

Comparison of two commercial molecular assays for simultaneous detection of respiratory viruses in clinical samples using two automatic electrophoresis detection systems

Keywords: MLPA; DPO; Respifinder; Microfluidic chip; Respiratory virus; RV detection;

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

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Keywords: Hereditary spastic paraplegia; SPG4; Mutation analysis; 3′ UTR; MLPA

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

Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndrome

Keywords: Myoclonus–dystonia (M–D); Epsilon-sarcoglycan gene; MLPA; Large deletion

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

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

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

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

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Keywords: FBN1 gene; Deletion 15q21; MLPA; CGH-array; Marfan syndrome

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

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

Keywords: Cornelia de Lange Syndrome; NIPBL; MLPA; aCGH

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

Usefulness of MLPA in the detection of SHOX deletions

Keywords: Disproportionate short stature; FISH; Leri–Weill dyschondrosteosis; Microsatellite analysis; MLPA; SHOX

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

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Keywords: MLPA; SMN1; SMN2; Spinal muscular atrophy; SMA

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

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease – case report

Keywords: Pelizaeus-Merzbacher disease; dysmyelination disorder; leukodystrophy; PLP1; gene duplication; MLPAchoroba Pelizaeusa-Merzbachera; choroba dysmielinizacyjna; leukodystrofia; PLP1; duplikacja genu; MLPA

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

Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD

Keywords: SDHB; SDHC; SDHD; Paraganglioma; Pheochromocytoma; Genotyping; DNA sequencing; Deletion detection; MLPA

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

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification

Keywords: Thalassemia; MLPA; Deletion breakpoint characterization

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

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

Keywords: Bladder exstrophy; 22q11.21; EEC; Microduplication; MLPA; Molecular karyotyping; SNP array

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

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

Keywords: CHARGE syndrome; CHD7; Mutation; MLPA; Detection rate; Clinical variability

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

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Keywords: Coffin–Lowry syndrome; CLS females; RSK2 mutations; MLPA; X-chromosome inactivation

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

Prenatal diagnosis of single gene disorders

Keywords: foetal DNA; hydrops; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene

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

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

Keywords: Lowe oculocerebrorenal syndrome; Dent disease 2; OCRL1; MLPA; Deletions; Duplications

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

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

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

Keywords: CNVs (copy number variants); Psychiatric disorders; MLPA; Rare variants; CNS (central nervous system) candidate genes

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

Low frequency of MLL-partial tandem duplications in paediatric acute myeloid leukaemia using MLPA as a novel DNA screenings technique

Keywords: MLL–PTD; MLPA; Paediatric AML

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

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported

Keywords: NSD1 gene; FGFR4 gene; Sotos syndrome; MLPA; Microdeletion; Chromosome 5

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

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region

Keywords: BRCA1, breast cancer 1, early onset; HBC, hereditary breast cancer; MLPA, multiplex ligation-dependent probe amplification; LGR, large genomic rearrangement; BC, breast cancer; OC, ovarian cancer; BRCA2, breast cancer 2, early onsetBRCA1; MLPA; Rearrangem

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

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

Keywords: Deletion 22q13; SHANK3/PROSAP2 gene; MLPA

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

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

Keywords: MLPA; Propionic acidemia; Large genomic deletions; Alu sequences; PCCA gene;

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