Exome and genome sequencing in reproductive medicine
Keywords: توالی Exome; Exome sequencing; genetic counseling; genetic diagnosis; preconception; prenatal;
مقالات ISI توالی Exome (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.
Genetic Determinants of IgA Nephropathy: Western Perspective
Keywords: توالی Exome; IgA nephropathy; galactose-deficient IgA1; GWAS; linkage analysis; next-generation sequencing; exome sequencing; whole genome sequencing; human genetics; complex traits;
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation
Keywords: توالی Exome; TPM1; Ebstein anomaly; Left-ventricular non-compaction; Exome sequencing;
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
Keywords: توالی Exome; rpl10; Ribosomopathy; Intellectual disability; Epilepsy; Exome sequencing;
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review
Keywords: توالی Exome; Mastocytosis; Developmental delay; Hypotonia; Extrapyramidal symptoms; GNB1; Exome sequencing;
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
Keywords: توالی Exome; RTT; Rett syndrome; MECP2; Methyl-CpG-Binding Protein 2; CDKL5; Cyclin Dependent Kinase Like 5; FOXG1; Forkhead Box G1; OMIM; Online Mendelian Inheritance in Man; PRKD1; Protein Kinase D1; NOVA1; Neurooncologic Ventral Antigen 1; c14orf23; Chromosome 14 O
Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder
Keywords: توالی Exome; BPD; bipolar disorder; GWAS; genome-wide association study; LD; linkage disequilibrium; MAF; minor allele frequency; QC; quality control; SNPs; single nucleotide polymorphisms; SNVs; single nucleotide variants; VQSR; variant quality score recalibration; B
Telomere length alterations in microsatellite stable colorectal cancer and association with the immune response
Keywords: توالی Exome; CRC; colorectal cancer; TTLR; tumor telomere length ratio; CN; copy number; GSEA; gene set enrichment analysis; TL; telomeric length; Telomere length; Exome sequencing; Immune response; Colon cancer;
KMT2D Mutation Is Associated With Poor Prognosis in Non-Small-Cell Lung Cancer
Keywords: توالی Exome; Epigenetics; Exome sequencing; Mixed-lineage leukemia protein 2; MLL2; Survival analysis;
Genetic variants of TREML2 are associated with HLA-B27-positive ankylosing spondylitis
Keywords: توالی Exome; AS; ankylosing spondylitis; GWAS; genome-wide association studies; ERAP-1; endoplasmic reticulum amino peptidase 1; IL-23R; interleukin-23 receptor; SNP; single nucleotide polymorphism; IBS; identical by state; MHC; the major histocompatibility complex; T
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms
Keywords: توالی Exome; Aortic aneurysm; Aneurysms-osteoarthritis syndrome; LDS3; Smad3; TGFβ pathway; Exome sequencing;
Case ReportAspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
Keywords: توالی Exome; Aspartylglucosaminuria (AGU); Aspartylglucosaminidase (AGA); Lysosomal storage disorder; Developmental regression; Exome sequencing; Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS);
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
Keywords: توالی Exome; Microphthalmia; OPPG; LRP5; Homozygosity mapping; Exome sequencing;
Archival ReportNonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations
Keywords: توالی Exome; CESD; Depressive symptoms; Exome sequencing; Major depression; MDD; NKPD1;
NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion
Keywords: توالی Exome; CVID; Immunodeficiency; chr15q24 deletion; DNA repair; Exome sequencing;
Non-syndromic severe hypodontia caused by a novel frameshift insertion mutation in the homeobox of the MSX1 gene
Keywords: توالی Exome; MSX1; Frameshift; Exome sequencing;
C14orf93 (RTFC) is identified as a novel susceptibility gene for familial nonmedullary thyroid cancer
Keywords: توالی Exome; Thyroid cancer; Exome sequencing; C14orf93; RTFC;
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family
Keywords: توالی Exome; Novel mutation; DFNA6/14/38; WFS1; Low-frequency hearing loss; Exome sequencing;
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
Keywords: توالی Exome; DYNC1H1; Myopathy; Diagnosis by sequencing; Exome sequencing; SMALED;
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
Keywords: توالی Exome; Ciliary chondrodysplasias; Exome sequencing;
A 'second truncation' in TTN causes early onset recessive muscular dystrophy
Keywords: توالی Exome; Titin; Titinopathy; Limb girdle muscular dystrophy; Exome sequencing; Dilated cardiomyopathy;
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer
Keywords: توالی Exome; MUTYH-associated polyposis; Colorectal cancer; 8-Oxoguanine; Base excision repair; Exome sequencing; Mutational signature;
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
Keywords: توالی Exome; Stormorken syndrome; Tubular aggregate myopathy; Exome sequencing; York platelet syndrome; STIM1;
Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease
Keywords: توالی Exome; CCER2; exome sequencing; Moyamoya disease; susceptibility gene;
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome
Keywords: توالی Exome; Inflammatory myopathy; Aicardi-Goutières syndrome; Type I interferonopathy; Autoimmune myositis; Exome sequencing;
A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase
Keywords: توالی Exome; Macro-AST; Exome sequencing; GOT1;
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Keywords: توالی Exome; COL18A1; Polymicrogyria; Epilepsy; Retina; Exome sequencing; Knobloch syndrome;
A TRAPPC6B splicing variant associates to restless legs syndrome
Keywords: توالی Exome; Restless legs syndrome; Exome sequencing; Variation; Splicing; Movement disorders; Sleep disorders; Authors report no disclosures;
A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family
Keywords: توالی Exome; Mutation; LMNA; Exome Sequencing; Atrial fibrillation
Combination of RNA- and exome sequencing: Increasing specificity for identification of somatic point mutations and indels in acute leukaemia
Keywords: توالی Exome; RNA-sequencing; Exome sequencing; Next generation sequencing; Somatic mutations; Acute myeloid leukemia;
Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach
Keywords: توالی Exome; Sulfite oxidase deficiency; Case report; Exome sequencing
ATRX driver mutation in a composite malignant pheochromocytoma
Keywords: توالی Exome; ALT; ATRX; exome sequencing; pheochromocytoma
Case reportIdentification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing
Keywords: توالی Exome; Schwartz-Jampel syndrome; Exome sequencing; Sanger sequencing; HSPG2;
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants
Keywords: توالی Exome; Early-onset dementia; Alzheimer's disease; Frontotemporal dementia; Volga German N141I; PSEN2; Exome sequencing;
TYROBP genetic variants in early-onset Alzheimer's disease
Keywords: توالی Exome; Alzheimer's disease; TYROBP; TREM2; Exome sequencing; Burden test;
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain
Keywords: توالی Exome; GTPBP2; Neurodegenerative disease; Ataxia; NBIA; Cognitive dysfunction; Exome sequencing;
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
Keywords: توالی Exome; ACDC; arterial calcification due to deficiency of CD73; ALP; alkaline phosphatase; DEXA; dual-energy X-ray absorptiometry; FGF23; fibroblast growth factor 23; GALNT3; polypeptide N-acetylgalactosaminyltransferase 3; HPO; Human Phenotype Ontology; IgA; imm
Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer
Keywords: توالی Exome; Prostate cancer; Exome sequencing; Gene variants;
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
Keywords: توالی Exome; Dementia with Lewy bodies; Exome sequencing; Alzheimer dementia; Lewy body dementia; GBA; PSEN1; APP; APOE;
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene
Keywords: توالی Exome; Exome sequencing; NDUFAF6; Leigh syndrome; RNA analysis;
Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer
Keywords: توالی Exome; Exome sequencing; Single-nucleotide variants; Lung cancer; Chronic obstructive pulmonary disease; Familial; Sporadic
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
Keywords: توالی Exome; exome sequencing; homozygous alpha-kinase 3 mutations; hypertrophy; intercalated disc; DCM; dilated cardiomyopathy; DNA; deoxyribonucleic acid; HCM; hypertrophic cardiomyopathy; ICD; implantable cardiac-defibrillator; IVS; interventricular septum; LV; lef
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer
Keywords: توالی Exome; Pancreatic adenocarcinoma; Familial pancreatic cancer; Exome sequencing; DNA repair genes;
Original ResearchFull Report: Basic and Translational-Alimentary TractGenomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population
Keywords: توالی Exome; Mutational Signature; Exome Sequencing; Copy Number Profiling; Esophagus; CI; confidence interval; CN; copy number; ESCC; esophageal squamous cell carcinoma; HNSCC; head and neck squamous cell carcinoma; PI3K; phosphoinositide 3-kinase; RTK; receptor-tyro
Exome sequencing a review of new strategies for rare genomic disease research
Keywords: توالی Exome; Genomics; Exome sequencing; Rare disease; Genetics; Genome; Diagnosis; Personalized medicine;
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism
Keywords: توالی Exome; Vitamin B12; Cobalamin; Exome sequencing; SCID; Immunodeficiency; Folate;
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
Keywords: توالی Exome; Exome sequencing; disorders of sex development (DSD); primary amenorrhea; LHCGR mutation;
A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism
Keywords: توالی Exome; Autosomal recessive juvenile parkinsonism; Exome sequencing; Parkin; Mutation; Genetic counseling;
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation
Keywords: توالی Exome; Early onset Alzheimer's disease; Kufs disease; Recessive; Exome sequencing; Homozygosity; CTSF;
Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene
Keywords: توالی Exome; Niemann-Pick disease; NPA; NPB; SMPD1; NGS; Exome sequencing;