Keywords: Becker; cost-effectiveness analysis; Duchenne; economic evaluation; immunohistochemistry; MLPA; muscular dystrophy; PCR; sequencing; Western blot;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene;
Keywords: HPA; hyperphenylalaninemia; PAH; phenylalanine hydroxylase; BH4; tetrahydrobiopterin; NGS; next generation sequencing; MLPA; multiplex ligation-dependent probe amplification; qRT-PCR; quantitative real-time PCR; APV; allelic phenotype values; GPV; genotyp
Keywords: Músculo; nervio; neuromuscular; miopatÃa; distrofia muscular; neuropatÃa periférica; ADN; exoma; genoma; PCR; MLPA; secuenciamiento de última generación; paneles de genes; Muscle; nerve; neuromuscular; myopathy; muscular dystrophy; peripheral neurop
Keywords: ALS; Amyotrophic lateral sclerosis; DMD; DuchenneMuscular Dystrophy; SMA; Spinalmuscular atrophy; FAP; FamilialAmyloid Polyneuropathy; OD; Orphandisease; ORD; Officeof Rare Diseases; NIH; NationalInstitutes of Health; sALS; SporadicALS; fALS; FamilialALS;
Keywords: UPL; unexplained pregnancy loss; GO; gene ontology; KEGG; Kyoto Encyclopedia of Genes and Genomes; SA; spontaneous abortion; MLPA; Multiplex Ligation Dependent Probe Amplification; Early miscarriage; Cell cycle; Histone modification; Placenta; mRNA profil
Keywords: NGS; next-generation sequencing; WGS; whole-genome sequencing; WES; whole-exome sequencing; AD; Autosomal Dominant; AR; Autosomal Recessive; XLR; X-Linked Recessive; OI; osteogenesis imperfecta; OSMED; oto-spondylo-mega-epiphyseal dysplasia; SADDAN; sever
Keywords: Primary immunodeficiency disease; whole-exome sequencing; copy number variants; AD; Autosomal dominant; ALPS; Autoimmune lymphoproliferative syndrome; AR; Autosomal recessive; BCM; Baylor College of Medicine; BHCMG; Baylor-Hopkins Center for Mendelian Gen
Keywords: Parkinson's disease; PARK2; Copy number variation; MLPA; South African;
Keywords: talasemia alfa; mikrocytoza; gap-PCR; MLPA; alfa globina; delecje; Alpha-thalassemia; Microcytosis; gap-PCR; MLPA; Alpha-globin; Deletions;
Keywords: ALGS; Alagille syndrome; ALT; Alanine aminotransferase; AR; Autosomal-recessive inheritance; AST; Aspartate aminotransferase; BRIC; Benign recurrent intrahepatic cholestasis; CNV; Copy number variation; D.Bil; Direct bilirubin; DJS; Dubin-Johnson syndrome
Keywords: fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene
Keywords: AAV; adeno-associated virus; ASO; antisense oligonucleotides; DBS; dried blood spot(s); DcPS; human scavenger decapping enzyme; DHPLC; denaturing high-performance liquid chromatography; HRMA; high-resolution melting analysis; LNA; lock nucleic acid; MLPA;
Keywords: Hereditary spastic paraplegia; SPAST; Mutation; MLPA;
Keywords: intellectual disability; mental retardation; subtelomeric rearrangements; MLPA
Keywords: Duchenne muscular dystrophy; Deletion; Duplication; Egypt; MLPA; Sequencing
Keywords: RT; reverse transcriptase; PCR; polymerase chain reaction; TTR; time to result; InfA/B; influenzavirus A/B; RSVA and B; respiratory syncytical virus A and B; PIV-1; parainfluenzavirus 1; CoV-OC43; coronavirus OC43; Rhv/Entero; rhino-/enterovirus; hMPV; hu
Keywords: Breast cancer; Metastases; Gene dosage; MLPA
Keywords: Serous ovarian cancer; Platinum; Xenograft; DNA repair; BRCA1; BRCA2; MLPA; multiplex ligation-dependent probe amplification; PFA; paraformaldehyde; FCS; fetal calf serum; FFPE; Formalin Fixed Paraffin Embedded; PBS; phosphate buffered saline; d; day;
Keywords: Parkinson's disease; MLPA; Exon dosage; Copy number changes;
Keywords: CAH; congenital adrenal hyperplasia; 21OHD; 21-hydroxylase deficiency; RCCX module; RP, C4, CYP21 and TNX genes; SW; salt-wasting; SV; simple-virilizing; NC; non-classical; ACTH; Adrenocorticotropic Hormone; 17-OHP; 17-hydroxyprogesterone; DHEAS; Dehydroe
Keywords: Cholesterol; Diagnostics; Familial hypercholesterolaemia; Genetic; Lipids; Mutations; FH; familial hypercholesterolaemia; ARMS; amplification refractory mutation system; HRM; high resolution melting; MLPA; multiplex ligation probe-dependent amplification;
Keywords: Turcot syndrome; APC; conventional karyotype; MLPA; FISH; digital PCR
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients
Keywords: Gaucher disease; GBA1; Molecular diagnosis; MLPA;
The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
Keywords: Chromosomal rearrangement; Corpus callosum; Ä°nvdupdel(8p); Array-CGH; MLPA;
Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations
Keywords: Apo A; apolipoprotein A; Apo B; apolipoprotein B; BMI; body mass index; DHPLC; Denaturing High Performance Liquid Chromatography; GAD; Anti-Glutamic acid Decarboxylase; HbA1c; glycated hemoglobin; HDL-C; high-density lipoprotein cholesterol; HLA-DRB1; HLA
High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction
Keywords: Acute lymphoblastic leukemia; BCP-ALL; MLPA; Copy number abnormality; Minimal residual disease;
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans
Keywords: SMA; spinal muscular atrophy; SMN; survival of motor neuron; NMD; nonsense-mediated decay; PTC; premature termination codon; fl-SMN1; full-length SMN1; DMEM; Dulbecco's modified Eagle's medium; MLPA; multiplex ligation-dependent probe amplification; PCR;
Potential advantages of CD1-restricted T cell immunotherapy in cancer
Keywords: ACT; adoptive cell therapy; MHC; major histocompatibility complex; TCR; T cell receptor; TIL; tumor-infiltrating lymphocyte; TAA; tumor-associated antigen; APC; antigen-presenting cell; DC; dendritic cell; HSCT; hematopoietic stem cell transplantation; Gv
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B
Keywords: KTM2B; Dystonia; Microdeletions; Genetic and inherited disorders; CNV; Copy number variants; GPI-DBS; Globus pallidus interna-deep brain stimulation; ID; Intellectual disability; MLPA; Multiplex ligation-dependent probe amplification; MRI; Magnetic resona
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
Keywords: C1-INH; C1-inhibitor; C1-INH-HAE; hereditary angioedema due to C1-INH deficiency; CI; confidence interval; MLPA; multiplex ligation-dependent probe amplification; NGS; next-generation sequencing; CNV; copy number variation; SNV; single-nucleotide variant;
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene
Keywords: ADPKD; Autosomal Dominant Polycystic Kidney Disease; ESRD; end-stage renal disease; Leucine-rich LRR; leucine rich repeat; WSC; cell wall integrity and stress response component; LDL-A; low density lipoprotein-A; IG-Like; immunoglobulin-like; REJ; recepto
Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China
Keywords: Hb; hemoglobin; CD; codon; DNA; deoxyribonucleic acid; Gap-PCR; gap polymerase chain reaction; Hb A2; hemoglobin A2; Hb F; hemoglobin F; MCV; mean corpuscular volume; Hb CS; Hb Constant Spring; Hb QS; Hb Quong Sze; Hb WS; Hb Westmead; MLPA; Multiplex liga
Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing
Keywords: BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; FoSTeS; Fork Stalling and Template Switching; FTHL17; ferritin heavy chain like 17; MLPA; multiplex ligation dependent probe amplification; MMBIR; microhomology-mediated break-induced repli
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6
Keywords: Autoinflammatory diseases; Behçet's disease; TNFAIP3; Comparative Genomic Hybridization (CGH); Chromosome deletion; Oral ulcer; ESID; European Society for Immunodeficiencies; ENT; Ear-nose-throat; NF-kB; Nuclear factor kappa-light-chain-enhancer of act
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy
Keywords: Duchenne/Becker muscular dystrophy; MLPA; Dystrophin; Dystrophinopathy;
Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China
Keywords: Hb; hemoglobin; CD; codon; DNA; deoxyribonucleic acid; Gap-PCR; gap polymerase chain reaction; Hb A2; hemoglobin A2; Hb F; hemoglobin F; MCV; mean corpuscular volume; Hb CS; Hb Constant Spring; Hb QS; Hb Quong Sze; Hb WS; Hb Westmead; MLPA; multiplex liga
Comparison of SHOX and associated elements duplications distribution between patients (LÄri-Weill dyschondrosteosis/idiopathic short stature) and population sample
Keywords: ASMT; acetylserotonin O-methyltransferase; CNE; conserved non-coding elements; CNV; copy number variant; DECIPHER; Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; DGV; Database of Genomic Variants; ISS; idiopathic short
Novel multiplex qualitative detection using universal primer-multiplex-PCR combined with pyrosequencing
Keywords: PCR; polymerase chain reaction; UP-M-PCR; universal primer-multiplex-PCR; GM; genetically modified; CE; capillary electrophoresis; HPLC; high performance liquid chromatography; MLPA; multiplex ligation-dependent probe amplification; EB; ethidium bromide;
Original ArticlePrevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing
Keywords: Large genomic rearrangements; MLPA; BRCA genes; hereditary breast and ovarian cancers; Tunisian population;
Research paperAneuploidy identification in pre-B acute lymphoblastic leukemia patients at diagnosis by Multiplex Ligation-dependent Probe Amplification (MLPA)
Keywords: ALL; MLPA; Aneuploidy; Karyotype; DNA-index;
Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, X, and Y using segmental duplication quantitative fluorescent PCR (SD-QF-PCR)
Keywords: FISH; fluorescence in situ hybridization; QF-PCR; quantitative fluorescent PCR; qPCR; real-time quantitative PCR; MLPA; multiplex ligation-dependent probe amplification; HGQ-PCR; homologous gene quantitative PCR; PSQ; paralogous sequence quantification; H
CYP21A2 intronic variants causing 21-hydroxylase deficiency
Keywords: CAH; congenital adrenal hyperplasia; SW; salt wasting; SV; simple virilizing; NC; non-classic; CL; classic; HSF; human splicing finder; MLPA; multiplex ligation-dependent probe amplification; 21-Hydroxylase deficiency; Intronic variant; Splicing mutations
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome
Keywords: Marfan syndrome; MLPA; FBN1; Gross deletion; Phenotype; cbEGF; Calcium-binding EGF-like domains; TB; TGFβ binding domains; CNVs; copy number variations; FBN1; fibrillin-1; MFS; Marfan syndrome; MLPA; multiplex ligation-dependent probe amplification; PGM;
Harnessing the CD1 restricted T cell response for leukemia adoptive immunotherapy
Keywords: MHC; major histocompatibility complex; ACT; adoptive cell therapy; DC; Dendritic cells; AML; T-ALL. B-ALL; mLPA; methyl-lysophosphatidic acid; HSCT; hematopoietic stem cell transplantation; GVL; graft versus leukemia; GVHD; graft versus host disease; iNKT
Multiplex ligation-dependent probe amplification (MLPA) for simultaneous detection of DNA from sunflower, poppy, flaxseed, sesame and soy allergenic ingredients in commercial food products
Keywords: Multiplex ligation-dependent probe amplification system; Sunflower (Helianthus annuus); Poppy (Papaver rhoeas); Flaxseed (Linum usitatissimum); Sesame (Sesamum indicum); Soy (Glicine max); Commercial food products; Food allergy; MLPA; multiplex ligation-d
Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory
Keywords: CNV; copy number variation; LGRs; large genomic rearrangements; HRMA; high resolution melting analysis; ALB; albumin; PV; pathogenic variant; BRCA; BRCA1/2; HBOC; hereditary breast/ovarian cancer; MLPA; multiplex ligation-dependent probe amplification; Tm
Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene
Keywords: Brugada syndrome; MLPA; SCN5A; Ventricular fibrillation;
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Keywords: MLPA; QFM-PCR; Gene rearrangement; Allele dosage; De novo mutation; Deletion breakpoint;
Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi
Keywords: HBA1, alpha-1-globin; HBA2, alpha-2-globin; MCV, mean cell volume; MCH, mean cell hemoglobin; PCR-RDB, PCR reverse dot blot; MLPA, multiplex ligation-dependent probe amplificationThalassemia; MLPA; α thalassemia; α2 polymorphism