Keywords: نفوذ; Annual incidence; Gender proportion; Leber hereditary optic neuropathy; Mitochondrial DNA; Penetrance;
مقالات ISI نفوذ (ترجمه نشده)
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Keywords: نفوذ; CFTR-related disorder; cystic fibrosis; genotype; mutation; penetrance; variant; atypical CF; adult diagnosis of CF; CF; Cystic fibrosis; CFTR; CF transmembrane conductance regulator; CFTR2; Clinical and functional translation of CFTR; CT; Computed tomogr
Keywords: نفوذ; Crianças; Miocardiopatia hipertrófica familiar; Diagnóstico genético; Penetrância; Children; Familial hypertrophic cardiomyopathy; Genetic testing; Penetrance;
Keywords: نفوذ; Children; Hypertrophic cardiomyopathy; Genetic testing; Penetrance; Crianças; Miocardiopatia hipertrófica familiar; Diagnóstico genético; Penetrância;
Keywords: نفوذ; Spinocerebellar ataxia type 8; CTG repeat; Interruption; Penetrance; Genetic test; RNA;
Keywords: نفوذ; Genotypes; Phenotypes; Expressivity; Penetrance; Inheritance; Monogenic mutations; Yeast; Génotypes; Phénotypes; Expressivité; Pénétrance; Hérédité; Mutations monogéniques; Levure;
Keywords: نفوذ; retinoblastoma; heritable; RB1 gene; genetic testing; penetrance;
Keywords: نفوذ; Autism spectrum disorder; developmental delay; CNV; penetrance; schizophrenia; selection;
Keywords: نفوذ; Penetrance; Expressivity; Copy number variations; Modifier genes; Epigenetics; Environmental factors; Oligogenic inheritance; Digenic inheritance
Keywords: نفوذ; arrhythmogenic right ventricular dysplasia; cardiomyopathy; exercise; heart failure; penetrance; ventricular arrhythmias; ARVD/C; arrhythmogenic right ventricular dysplasia/cardiomyopathy; CI; confidence interval; ECG; electrocardiogram; HF; (stage C) hea
A de novo 921â¯Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors
Keywords: نفوذ; Microdeletion; 11q13.1; NRXN2; Language delay; Autism; Penetrance;
Comparison of SHOX and associated elements duplications distribution between patients (LÄri-Weill dyschondrosteosis/idiopathic short stature) and population sample
Keywords: نفوذ; 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
SupplementApplying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
Keywords: نفوذ; CFTR genetic testing; CFTR mutations; CFTR-related disorder; cystic fibrosis; genotype; genotype-phenotype correlation mutation; MVCC; penetrance; variant; CF; Cystic fibrosis; CFMD; CF Mutation Database; CFTR; CF transmembrane conductance regulator; CFTR
Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss
Keywords: نفوذ; Sensorineural hearing loss; GJB2; MT-RNR1; Mutation; Expression variability; Penetrance;
Genetic architecture of ALS in Sardinia
Keywords: نفوذ; Amyotrophic lateral sclerosis; Sardinia; Phenotype; Genetics; Penetrance; Prognosis;
A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism
Keywords: نفوذ; Parkinson disease; LRRK2 parkinsonism; Genetics; Penetrance;
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
Keywords: نفوذ; Cochlear implant; Dominant; Hearing loss; GJB2; Penetrance; Tunisia;
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families
Keywords: نفوذ; Leber's hereditary optic neuropathy; Mitochondrial DNA mutation; ND6; Penetrance; Haplogroup; Chinese;
Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution
Keywords: نفوذ; genetic background; epistasis; genotype by environment interaction; genetic analysis; penetrance; expressivity
Diagnostic clinique et moléculaire de la myopathie facioscapulo-humérale de type 1 (FSHD1) en 2012
Keywords: نفوذ; Dystrophie facioscapulo-humérale; FSHD1; Corrélation génotype-phénotype; Pénétrance; Peignage; Facioscapulohumeral dystrophy; FSHD1; Molecular combing; Genotype-phenotype correlation; Penetrance;
Semiparametric inference on the penetrances of rare genetic mutations based on a case-family design
Keywords: نفوذ; Case-family design; Kin-cohort design; Penetrance; Proportional hazards model
Penetrance of LRRK2 G2385R and R1628P is modified by common PD-associated genetic variants
Keywords: نفوذ; Parkinson’s disease; Penetrance; LRRK2; Genetic variants; Association
Role of Germline Genetic Factors in MPN Pathogenesis
Keywords: نفوذ; Myeloproliferative neoplasms; Hereditary predisposition; Familial clustering; JAK2 haplotype; Germline variants; Penetrance;
The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation
Keywords: نفوذ; Penetrance; Leber's optic neuropathy; Mitochondrion; Complex III; Complex I; Mutaion; Chinese;
Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
Keywords: نفوذ; Leber’s hereditary optic neuropathy; Mitochondrial DNA; Mutation; Penetrance; Modifier genes; Chinese
The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations
Keywords: نفوذ; LHON; MT-ND1; MT-ND5; Mutational hotspot; Penetrance; Chinese;
Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation
Keywords: نفوذ; Mitochondria; Leber's hereditary optic neuropathy; Penetrance; Haplogroup; Mutation; Chinese; ND6;
Clinical Screening and Genetic Testing
Keywords: نفوذ; Genetic screening; Penetrance; Mendelian disorders; Genetic architecture;
Very low penetrance of Leber’s hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation
Keywords: نفوذ; Leber hereditary optic neuropathy; Mitochondrial DNA; Mutation; Visual loss; Penetrance; Haplotype; Modifiers; Chinese; ND1
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia
Keywords: نفوذ; DYT1 dystonia; Gene expression profiling; TorsinA; Penetrance
Clinical Screening and Genetic Testing
Keywords: نفوذ; Genetic screening; Penetrance; Mendelian disorders; Genetic architecture;
Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation
Keywords: نفوذ; LHON; leber's hereditary optic neuropathy; mtDNA; mitochondrial DNA; MAS-PCR; multiplex allele-specific polymerase chain reaction; nps; nucleotide positions; LHON; Mitochondrial DNA; G3635A; Primary LHON mutation; Penetrance; Haplogroup;
The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family
Keywords: نفوذ; LHON, Leber′s hereditary optic neuropathy; mtDNA, mitochondrial DNA; VEP, visual evoked potentials; MAS-PCR, multiplex allele-specific polymerase chain reaction; nps, nucleotide positionsLHON; Mitochondrial DNA; T14484C; Penetrance; Haplogroup
Leber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
Keywords: نفوذ; Mitochondrial DNA; ND1; Mutation; Leber’s hereditary optic neuropathy; Visual loss; Penetrance; Haplogroup; Maternally; Chinese
Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation
Keywords: نفوذ; Mitochondrial DNA; ND6; Mutation; Leber’s hereditary optic neuropathy; Visual loss; Penetrance; Haplogroup; Maternally; Chinese
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation
Keywords: نفوذ; Hearing loss; Aminoglycosides; Mitochondrial DNA; Haplotype; 12S rRNA mutation; Penetrance
Role of MSH6 and PMS2 in the DNA Mismatch Repair Process and Carcinogenesis
Keywords: نفوذ; MSH6; PMS2; Mismatch repair; Penetrance;
Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber’s hereditary optic neuropathy
Keywords: نفوذ; LHON; G11778A; A1555G; Penetrance; Chinese
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family
Keywords: نفوذ; Vision loss; Mitochondrial DNA mutation; Penetrance; Expressivity; HaplotypemtDNA, mitochondrial DNA; LHON, Leber’s hereditary optic neuropathy; PCR, polymerase chain reaction
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss
Keywords: نفوذ; Hearing loss; tRNASer(UCN); Mitochondrial DNA; Penetrance; Mutation; Chinese; Aminoglycoside ototoxicity
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss
Keywords: نفوذ; Hearing loss; Aminoglycoside; Mitochondrial DNA; Mutation; Chinese; 12S rRNA; tRNA; Haplotype; Modifier; Penetrance
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees
Keywords: نفوذ; mtDNA, mitochondrial DNA; dB, decibel; LHON, Leber's hereditary optic neuropathy; PCR, Polymerase Chain Reaction.Hearing loss; 12S rRNA; Mitochondrial DNA; Penetrance; Mutation; Chinese; Aminoglycoside ototoxicity
Iron storage disease: Facts, fiction and progress
Keywords: نفوذ; Hemochromatosis; Ferritin; Hepcidin; Penetrance
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
Keywords: نفوذ; mtDNA, mitochondrial DNA; dB, Decibel; LHON, Lebere's hereditary optic neuropathy; PCR, Polymerase Chain Reaction; A-site, aminoacyl-tRNA decoding siteHearing loss; 12S rRNA; Mitochondrial haplogroup; Penetrance; Mutation; Chinese
Helicobacter pylori infection and HFE hemochromatosis
Keywords: نفوذ; Iron; Phenotype; Penetrance; Iron deficiency;
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G → A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
Keywords: نفوذ; Missense mutation; Skewed X-inactivation; Penetrance; TFR2 I449V; X chromosome
Leber’s hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
Keywords: نفوذ; Leber’s hereditary optic neuropathy; ND6 T14484C mutation; Penetrance; Vision loss; Mitochondrial DNA; Chinese
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
Keywords: نفوذ; Hearing loss; Aminoglycoside ototoxicity; Mitochondrial 12S rRNA; Mutation; Penetrance; Nuclear background; Haplotypes; Chinese
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness
Keywords: نفوذ; Deafness; Mitochondrial 12S rRNA mutation; Aminoglycoside; Penetrance; Ototoxicity; Maternally transmitted; Prevention; Detection; Chinese
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families
Keywords: نفوذ; Hearing loss; Mitochondrial 12S rRNA; Mutation; Variant; Haplotype; Penetrance; Chinese