Keywords: آرایه SNP; Sweet's syndrome; Hematological malignancy; Clonality; SNP array; Sequencing;
مقالات ISI آرایه SNP (ترجمه نشده)
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Keywords: آرایه SNP; corpus callosum; agenesis of corpus callosum; dysgenesis of corpus callosum; CNV; SNP array; chromosomal microarray; CNVs; Copy number variations; DGV; Database of genomic variants; NF1; Neurofibromatosis type 1; SHH; Sonic hedgehog; VOUS; Variants of unk
Keywords: آرایه SNP; Cholangiocarcinoma; InhibinA; Cholangioblastic; SNP array; Cytogenomics; Neuroendocrine; TGF-β signaling;
Keywords: آرایه SNP; Colon cancer; copy number abnormalities; SNP array; chromosomal instability (CIN); microsatellite instability (MSI);
Keywords: آرایه SNP; Atlantic salmon; SNP array; Domestication; Signatures of selection; Grilsing;
Keywords: آرایه SNP; Horse; Fixation index; Extended haplotype homozygosity; Selection signature; SNP array;
Keywords: آرایه SNP; FISH; Fluorescence in-situ hybridization; CGH; Comparative genomic hybridization; GTG; Giemsa trypsin Giemsa; FGR; fetal growth restriction; Aortic coarctation; 18q21.3 deletion syndrome; 18p11.2 duplicaion syndrome; SNP array; Phenotype-genotype;
Keywords: آرایه SNP; Infantile neuronal ceroid lipofuscinosis; CLN1; PPT1; DNA microarray; SNP array; Uniparental isodisomy
Microarrays in prenatal diagnosis
Keywords: آرایه SNP; prenatal diagnosis; molecular karyotyping; chromosomal microarray; SNP array; copy number variant;
Constitutional 560.49Â kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor
Keywords: آرایه SNP; 2p24.3 microduplication; SNP array; Wilms tumor; MYCN gene;
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families
Keywords: آرایه SNP; ACRD; autism chromosome rearrangement database; AutDB; autism database; CNVs; copy number variants; DGVs; database of genomic variants; GABA; gamma-aminobutyric acid; qPCR; quantitative real-time PCR; SNPs; single nucleotide polymorphisms; autism; copy nu
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker–Warburg syndrome
Keywords: آرایه SNP; Walker–Warburg syndrome; ISPD gene; Brain anomalies; SNP array; 7p21 microdeletion
Concordance of copy number alterations using a common analytic pipeline for genome-wide analysis of Illumina and Affymetrix genotyping data: a report from the Children's Oncology Group
Keywords: آرایه SNP; Pediatrics; acute myeloid leukemia; SNP array; copy number alterations
Genetic alterations in renal cell carcinoma with rhabdoid differentiation
Keywords: آرایه SNP; Kidney; Renal cell carcinoma; Rhabdoid; SNP array; Genetics;
BRAF mutations in pediatric metanephric tumors
Keywords: آرایه SNP; Metanephric adenoma; Metanephric adenofibroma; Papillary carcinoma; BRAF V600E mutation; FISH; SNP array
Upregulated, 7q21-22 amplicon candidate gene SHFM1 confers oncogenic advantage by suppressing p53 function in gastric cancer
Keywords: آرایه SNP; GC; Gastric Cancer; CN; Copy Number; GEO; Gene Expression Omnibus; RT-PCR; Reverse Transcription Polymerase Chain Reaction; aCGH; array Comparative Genomic Hybridization; SNP; Single Nucleotide Polymorphism; FLUC; Firefly luciferase; RLUC; Renilla lucifer
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12
Keywords: آرایه SNP; Oesophageal atresia with tracheoesophageal fistula; Anal atresia; VATER association; 17q12 microduplication; SNP array
Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening
Keywords: آرایه SNP; Test-failure; blastocyst; biopsy; vitrification; SNP array;
Detection of an activated JAK3 variant and a Xq26.3 microdeletion causing loss of PHF6 and miR-424 expression in myelodysplastic syndromes by combined targeted next generation sequencing and SNP array analysis
Keywords: آرایه SNP; MDS; SNP array; Targeted next generation sequencing
Behavioural phenotype of a patient with a de novo 1.2Â Mb chromosome 4q25 microdeletion
Keywords: آرایه SNP; SNP array; de novo 4q25 microdeletion; 4q25; Intellectual disability; Dysmorphic features; Behavioural phenotype; Neuropsychological phenotype;
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency
Keywords: آرایه SNP; UPD; SUOX; LOH; Chromosome 12; SNP array;
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Keywords: آرایه SNP; EMARDD; MEGF10; SNP array; Exome sequencing; Deletion analysis; Myopathy;
Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome
Keywords: آرایه SNP; Male factor infertility; copy number variations; SNP array; calcium-activated chloride channels;
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
Keywords: آرایه SNP; HME; hereditary multiple exostosis; EXT1; exostosin 1; EXT2; exostosin 2; EXT3; exostosin 3; MLPA; multiple ligation probes dependent amplification; MO; multiple osteochondrosarcomas; PCR; polymerase chain reaction; Array GH; array genomic hybridization;
The advantage of using SNP array in clinical testing for hematological malignancies-a comparative study of three genetic testing methods
Keywords: آرایه SNP; SNP array; myelodysplastic syndrome; chronic lymphocytic leukemia; loss of heterozygosity;
Identification of a patient with intellectual disability and de novo 3.7Â Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
Keywords: آرایه SNP; Mb; megabase; SNP; single nucleotide polymorphism; ID; intellectual disability; HC; head circumference; SD; standard deviation; MRI; magnetic resonance imaging; FMR1; fragile X mental retardation 1; PCR; polymerase chain reaction; FISH; fluorescence in si
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism
Keywords: آرایه SNP; Deletion 2p23; SNP array; DTNB; Cryptorchidism
SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy
Keywords: آرایه SNP; Beckwith–Wiedemann syndrome; 11p15 paternal disomy; SNP array; Mosaicism
Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants
Keywords: آرایه SNP; Cytogenetics; infant; SNP array; soft tissue
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism
Keywords: آرایه SNP; Duplication; Inversion; Complex rearrangement; SNP array
A de novo 3.57Â Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy
Keywords: آرایه SNP; SNP array; De novo microdeletion; 8q12.3q13.2; Intellectual disability; Dysmorphic features; Neuropsychological dysfunction; Epilepsy; ESES; CSWS;
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
Keywords: آرایه SNP; CHD7; Duplication 8q12; SNP array; Dosage sensitive gene; Copy number variation; CNV; Congenital heart defect;
A new minimal deleted region at 11q22.3 reveals the importance of interpretation of diminished FISH signals and the choice of probe for ATM deletion screening in chronic lymphocytic leukemia
Keywords: آرایه SNP; CLL; ATM screening; 11q23 MDR; SNP array; FISH; Diminished FISH signal;
Molecular genetic characterization of the 11q13 breakpoint in a desmoplastic fibroma of bone
Keywords: آرایه SNP; Desmoplastic fibroma; desmoplastic fibroblastoma; FISH; SNP array; 11q13
SNP array and FISH findings in two pleomorphic hyalinizing angiectatic tumors
Keywords: آرایه SNP; Pleomorphic hyalinizing angiectatic tumor; PHAT; SNP array; FISH
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes
Keywords: آرایه SNP; TAR; 1q21.1 deletion; SNP array; FISH; qPCRTAR, Thrombocytopenia-absent-radius; BAC, Bacterial Artificial Chromosome; CGH, comparative genomic hybridization; STR, Short Tandem Repeat; SNP, Single Nucleotide Polymorphism; FISH, Fluorescence in situ hybridi
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst
Keywords: آرایه SNP; Microdeletion syndrome; Seizures; Renal anomalies; Choledochal cyst; 2p15p16.1; SNP array
Molecular and clinical characterization of patients with a ring chromosome 11
Keywords: آرایه SNP; Ring chromosome 11; SNP array; Café au lait spots
Older patients with normal karyotype acute myeloid leukemia have a higher rate of genomic changes compared to young patients as determined by SNP array analysis
Keywords: آرایه SNP; AML; Normal karyotype; SNP array; Old age
Acquired Uniparental Disomy in Myeloproliferative Neoplasms
Keywords: آرایه SNP; Myeloproliferative neoplasm; Uniparental disomy; SNP array; TET2; CBL; EZH2; JAK2;
Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors
Keywords: آرایه SNP; SNP array; Wilms tumor; brain tumor; sarcoma; neuroblastoma
SNP-based arrays complement classic cytogenetics in the detection of chromosomal aberrations in Wilms’ tumor
Keywords: آرایه SNP; Wilms' tumors; SNP array; cytogenetics
Saliva is a reliable and practical source of germline DNA for genome-wide studies in chronic lymphocytic leukemia
Keywords: آرایه SNP; Saliva; Germline DNA; SNP array; Next generation sequencing; Chronic lymphocytic leukemia
De novo microduplication at 22q11.21 in a patient with VACTERL association
Keywords: آرایه SNP; VACTERL association; 22q11.21; Microduplication; MLPA; SNP array; Cat eye syndrome; Supernumerary der(22)
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
Keywords: آرایه SNP; Unbalanced translocation t(9;16); Developmental delay; Pericentric inversion 9; Homologous Recombination; Array-CGH; SNP Array; Deletion 9q34; Duplication 16p13
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
Keywords: آرایه SNP; CAPN3; CAV3; FKRP; Homozygosity mapping; LGMD2; SNP array;
Gene Copy Number Aberrations Are Associated with Survival in Histologic Subgroups of Non-small Cell Lung Cancer
Keywords: آرایه SNP; Lung cancer; Prognosis; SNP array; CGH; Gene expression profile
Genome-wide analysis of genetic alterations in testicular primary seminoma using high resolution single nucleotide polymorphism arrays
Keywords: آرایه SNP; Testicular cancer; SNP array; Seminoma; Genome-wide analysis
Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies
Keywords: آرایه SNP; SNP array; genome wide array; CDKN2A/B; BCL6; TAL1
Clinical genomics of renal epithelial tumors
Keywords: آرایه SNP; Renal cell carcinoma; diagnosis; prognosis; genetics; chromosomal imbalances; cytogenomic array; cytogenetics; SNP array; virtual karyotype