Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; DHPLC, denaturing high performance liquid chromatography; FBNI, fibrillin-1 gene; LV, left ventricle; LVEDD, left ventricular end diastolic dimension; M-mode, motion mode; MFS, Marfan syndrome; MLPA, multiplex ligation-dependent probe amplification; SD, s
مقالات ISI MLPA، تکثیر پروتئین وابسته چندگانه (ترجمه نشده)
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Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; AI, amelogenesis imperfect; DNA, desoxyribonucleic acid; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction; SNP, single nucleotide polymorphism; UCSC, University of California Santa Cruz; WDR72, WD REPEAT-CONTAINING PR
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; APTT, activated partial thromboplastin time; BAT, bleeding assessment tool; BDGP, Berkeley Drosophila Genome Project; CNVs, copy number variations; FXI, Factor XI; FXI:C, FXI activity; F11, FXI gene; MLPA, multiplex ligation-dependent probe amplification;
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; PAH, phenylalanine hydroxylase; HPA, hyperphenylalaninemia; PKU, phenylketonuria; BH4, tetrahydrobiopterin; L-Phe, phenylalanine; MLPA, multiplex ligation-dependent probe amplification; NGS, next generation sequencingHyperphenylalaninemia; Phenylketonuria
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CAH, congenital adrenal hyperplasia; 21-OHD, 21-hydroxylase deficiency; CYP21A2, cytochrome P450, family 21, subfamily A, polypeptide 2; MLPA, multiplex ligation-dependent probe amplification; SW, salt-wasting; SV, simple virilizing; NC, nonclassical; CYP
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; ID, intellectual disability; GDD, global developmental delay; CNV, copy number variation; CMA, chromosomal microarray; MLPA, multiplex ligation-dependent probe amplification; FISH, fluorescence in situ hybridization; qPCR, Quantitative-PCR; ASD, Autism sp
Glioblastomas with copy number gains in EGFR and RNF139 show increased expressions of carbonic anhydrase genes transformed by ENO1
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CN, copy number; DAPI, diaminephylindole; ddCt, delta-delta crossing threshold; GB, glioblastoma; GOI, gene of interest; HKG, housekeeping gene; IRES, internal ribosome entry site; MLPA, multiplex ligation-dependent probe amplification; MPNST, malignant p
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; VCFS, velocardiofacial syndrome; CHD, congenital heart defect; FISH, fluorescence in situ hybridization; MLPA, multiplex ligation-dependent probe amplification; aCGH, array-based comparative genomic hybridization; LCR, low copy repeats; CTD, conotruncal d
The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; IVS, intervening sequence; VTE, venous thromboembolic disorders; PS, protein S; CN, copy number; MLPA, multiplex ligation-dependent probe amplification; QGRS, quadruplex-forming G-rich sequences; LTR, long terminal repeat; ERV1, endogenous retroviral sequ
Rapid detection of Down's syndrome using quantitative real-time PCR (qPCR) targeting segmental duplications on chromosomes 21 and 11
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; FISH, fluorescence in situ hybridization; qPCR, quantitative real-time PCR; SNP, single-nucleotide polymorphism; MLPA, multiplex ligation-dependent probe amplification; CNV, copy number variation; QF-PCR, quantitative fluorescent polymerase chain reaction
Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; Array CGH, array based comparative genomic hybridization; FISH, fluorescent in situ hybridization; FSH, follicle stimulating hormone; LH, luteinizing hormone; Mb, megabase; MLPA, multiplex ligation-dependent probe amplification; POF, premature ovarian fai
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; NGS, next generation sequencing; GS, Gene Scan; QC, Quality Control; MPS, massive parallel sequencing; MLPA, multiplex ligation-dependent probe amplification; MAQ, multiplex amplicon quantificationBRCA1; BRCA2; Frameshift mutations; NGS; Breast cancer
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing; T-NGS, targeted next-generation sequencing; VUS, variants of unknown significance; WES, whole-exome sequencingCOL11A1; COL11A2; Stickler syndrome; Next-generation seq
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CS, Currarino syndrome; HGVS, Human Genome Variation Society; HLXB9, homeobox gene HB9; LINEs, long interspersed nuclear element; MNX1, motor neuron and pancreas homeobox gene; MLPA, multiplex ligation-dependent probe amplification; ncRNA, non-coding RNA;
Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; DHPLC, denaturing high-performance liquid chromatography; GTF2H2, general transcription factor IIH, polypeptide 2 gene; H4F5, human 4F5 gene; kb, kilobase(s) or 1000 bp; MLPA, multiplex ligation-dependent probe amplification; NAIP, neuronal apoptosis inhi
Novel insertion mutation p.Asp610GlyfsX23 in APC gene causes familial adenomatous polyposis in Chinese families
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; FAP, familial adenomatous polyposis; APC, adenomatous polyposis coli; MUTYH, human mutY homolog; MLPA, multiplex ligation-dependent probe amplification; CRC, colorectal cancer; CHRPE, congenital hypertrophy of the retinal pigment epithelium; MAP, MUTYH-as
Identification of a novel large intragenic deletion in a family with Fanconi anemia: First molecular report from India and review of literature
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; FA, Fanconi anemia; MLPA, multiplex ligation-dependent probe amplification; DNA, deoxyribonucleic acid; OMIM, Online Mendelian Inheritance in Man; DEB, diepoxybutane; MMC, mitomycin C; NCHS, National Center for Health Statistics; ANC, absolute neutrophil
A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; MLPA, multiplex ligation-dependent probe amplification; DS, Down syndrome; MDS, Miller–Dieker syndrome; CT, computed tomography; CNV, copy number variation; MR, mental retardation; DD, developmental delay; CMA, chromosomal microarray; ID, intellectual dis
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; Ellis van Creveld syndrome; Weyers acrofacial dyostosis; EVC; EVC2AVCD, atrioventricular canal defect; CA, common atrium; CHD, congenital heart defect; EvCS, Ellis van Creveld syndrome; Hh, Hedgehog; MLPA, Multiplex Ligation-dependent Probe Amplification;
Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CNV, copy number variation; FISH, fluorescent in situ hybridisation; GaII x, Illumina Genome Analyzer IIx; MLPA, multiplex ligation-dependent probe amplification; OMIM, Online Mendelian Inheritance in Man; NGS, next generation sequencing; Q-PCR, Quantitat
Molecular analysis of HEXA gene in Argentinean patients affected with Tay–Sachs disease: Possible common origin of the prevalent c.459 + 5A>G mutation
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; ACTR1a, alpha-centractin; AFAP, actin filament-associated protein; ALB, albumin; ME, Maximum Entropy; MLPA, Multiplex Ligation-dependent Probe Amplification; NN, Neural Network; PDB, Protein Data Bank; SD, Sandhoff diseaseGM2 gangliosidosis; Mutational an
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; matUPD2, maternal uniparental disomy of chromosome 2; MLPA, Multiplex ligation-dependent probe amplification; AOH, absence of heterozygosity; dGK, Deoxyguanosine kinase; mtDNA, mitochondrial DNA; MRI, Magnetic resonance imaging; MRS, Magnetic resonance sp
The spectrum of 4q- syndrome illustrated by a case series
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CGH, comparative genomic hybridisation; CPAP, continuous positive airway pressure; CVS, chorionic villus sampling; FISH, fluorescent in situ hybridisation; IUGR, intrauterine growth retardation; MLPA, multiplex ligation-dependent probe amplification; MRI,
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; CAH, congenital adrenal hyperplasia; CYP21A2, 21 hydroxylase enzyme; NC, non classical form; MLPA, multiplex ligation-dependent probe amplification; SNP, single nucleotide polymorphism; SV, simple virilizing form; SW, salt-wasting form; 17OHP, 17-hydroxyp
Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; mtDNA, mitochondrial DNA; BN-PAGE, blue native-PAGE; COPP, complex I phylogenetic profile; GFP, green fluorescent protein; PK, proteinase K; 2D, two-dimensional; RT, reverse transcriptase; MLPA, multiplex ligation-dependent probe amplification; DMEM, Dulb
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; IAA, interrupted aortic arch; MLPA, multiplex ligation-dependent probe amplification; MMA, methylmalonic aciduria; mtDNA, mitochondrial DNA; MRC, mitochondrial respiratory chain; nDNA, nuclear DNA; NDPK, nucleoside diphosphate kinase; OLCFA, odd-numbered
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; 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
Genetic differences between primary larynx and pharynx carcinomas and their matched lymph node metastases by multiplex ligation-dependent probe amplification
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; MLPA, multiplex ligation-dependent probe amplification; LPSCC, larynx and pharynx squamous cell carcinomas; HNSCC, head and neck squamous cell carcinomas; PT, primary tumors; LNM, lymph node metastasesLarynx and pharynx tumors; Lymph node metastasis; DNA
Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; SMA, spinal muscular atrophy; MLPA, multiplex ligation-dependent probe amplification; SMN, survival motor neuron gene; PCR-RFLP, polymerase chain reaction-restriction fragment length polymorphism; ARMS, Amplification Refractory Mutation System; AFC, amnio
Quantification of the methylation status of the PWS/AS imprinted region: Comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; PWS; AS; CpG methylation; SeQMA; MS-MLPA; Methylation analysisAS, Angelman syndrome; MLPA, multiplex ligation-dependent probe amplification; MS-MLPA, methylation-specific MLPA; PWS, Prader–Willi syndrome; RPA, relative peak area; SeQMA, sequence-based qua
Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; DCM, dilated cardiomyopathy; DGGE, denaturing gradient gel electrophoresis; DNA, deoxyribonucleic acid; EMB, endomyocardial biopsy; IDCM, idiopathic dilated cardiomyopathy; LMNA, lamin AC; MLPA, multiplex ligation-dependent probe amplification; PCR, polym
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; WS, Williams (–Beuren) syndrome; FISH, fluorescent in situ hybridization; MLPA, multiplex ligation-dependent probe amplification; WISC-RN, Wechsler Intelligence Scale—revised Dutch version; WT, wild type miceHuman; Mice; Motor behavior; Cognition; Genetic
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; DNA, deoxyriboenucleic acid; FISH, fluorescent in situ hybridization; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction
Recurrent Genomic Alterations With Impact on Survival in Colorectal Cancer Identified by Genome-Wide Array Comparative Genomic Hybridization
Keywords: MLPA، تکثیر پروتئین وابسته چندگانه; array CGH, microarray-based comparative genomic hybridization; BAC, bacterial artificial chromosome; CRC, colorectal cancer; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction; RAR, recurrently altered region; RAR-G, re