Keywords: همبستگی ژنوتیپ-فنوتیپ; Noonan syndrome; Mutation; Next generation sequencing; Genotype-phenotype correlation; Structural analyses;
مقالات ISI همبستگی ژنوتیپ-فنوتیپ (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: همبستگی ژنوتیپ-فنوتیپ; 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: همبستگی ژنوتیپ-فنوتیپ; Type 1 myotonic dystrophy; Dystrophia myotonica protein kinase (DMPK); Triplet primed PCR (TP-PCR); Muscular Dystrophy Rating Scale (MDRS); Genotype-phenotype correlation;
Keywords: همبستگی ژنوتیپ-فنوتیپ; Familial hypercholesterolemia; LDLR; APOB; PCSK9 gene mutations; Genotype-phenotype correlation; Mutation clusters;
Keywords: همبستگی ژنوتیپ-فنوتیپ; genetics; genotype-phenotype correlation; monogenic diabetes; mutations; next-generation DNA sequencing; génétique; corrélation génotype/phénotype; diabète monogénique; mutations; séquençage de l'ADN de nouvelle génération;
Keywords: همبستگی ژنوتیپ-فنوتیپ; Parkinson’s disease; Glucocerebrosidase; GBA; Genotype-phenotype correlation
Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants
Keywords: همبستگی ژنوتیپ-فنوتیپ; Brugada Syndrome; Genotype-phenotype correlation; Reclassification; SADS; SCN1B; Sudden cardiac death;
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
Keywords: همبستگی ژنوتیپ-فنوتیپ; Lysosomal disease; Pompe disease; Acid α-glucosidase; Genotype-phenotype correlation;
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
Keywords: همبستگی ژنوتیپ-فنوتیپ; GNE myopathy; Hereditary inclusion body myopathy; Distal myopathy; Rare neuromuscular disorders; Epidemiology; Genotype-phenotype correlation;
Children with type 1 Gaucher disease: Changing profiles in the 21st century
Keywords: همبستگی ژنوتیپ-فنوتیپ; Ashkenazi Jewish; Enzyme replacement therapy; Genotype-phenotype correlation; Height growth; Large-scale screening;
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
Keywords: همبستگی ژنوتیپ-فنوتیپ; Deep phenotyping; Genotype-phenotype correlation; No mutation identified (NMI); Tuberous sclerosis complex (TSC); TSC1; TSC2;
Non-syndromic retinitis pigmentosa
Keywords: همبستگی ژنوتیپ-فنوتیپ; Retinitis pigmentosa; Rod-cone dystrophy; Inherited retinal dystrophy; Phenotype; Genotype-phenotype correlation; RP subtype; BBS; Bardet-Biedl syndrome; cGMP; cyclic guanosine monophosphate; CSNB; congenital stationary night blindness; ESCs; embryotic st
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Keywords: همبستگی ژنوتیپ-فنوتیپ; Cyclic GMP; Genotype-phenotype correlation; Guanylate cyclase; GUCY2D; Mutation; Photoreceptor; Retinal diseases; AAV; adeno-associated virus; ad; autosomal dominant; ar; autosomal recessive; BSP; bone spicule-like pigmentation; CCD; cyclase catalytic dom
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
Keywords: همبستگی ژنوتیپ-فنوتیپ; 16p13 microduplication; Genotype-phenotype correlation; GRIN2A; Epilepsy;
Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr
Keywords: همبستگی ژنوتیپ-فنوتیپ; Genotype-phenotype correlation; Heterozygous; Homozygous; Long QT syndrome; Protein trafficking;
Stargardt disease-associated mutation spectrum of a Russian Federation cohort
Keywords: همبستگی ژنوتیپ-فنوتیپ; Gene mutation; Genotype-phenotype correlation; Next-generation sequencing; Retinopathy; Retinal dystrophies; Stargardt disease;
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation
Keywords: همبستگی ژنوتیپ-فنوتیپ; Postaxial polydactyly; Supernumerary digits; Camptodactyly; Syndactyly; GLI3; Genotype-phenotype correlation; Pakistani family;
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
Keywords: همبستگی ژنوتیپ-فنوتیپ; ARSB; Arylsulfatase B; HGMD; human gene mutation database; MPS; mucopolysaccharidoses; LSD; lysosomal storage disorders; DS; dermatan sulfate; Molecular analysis; Mucopolysaccharidoses type VI; Novel mutation; Functional characterization; Pathogenic varia
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
Keywords: همبستگی ژنوتیپ-فنوتیپ; CREB binding protein; Novel mutation; Rubinstein-Taybi syndrome; Targeted exome sequencing; Genotype-phenotype correlation
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
Keywords: همبستگی ژنوتیپ-فنوتیپ; Joubert syndrome; Meckel-Gruber syndrome; Multiple sequence alignment; Evolutionary conservation; MKS1; Corpus-Callosum agenesis; Genotype-phenotype correlation; Ciliopathy; Dysmorphology; Syndromology; Bioinformatics; Missense-mutation; Founder mutation
The evolution of sports participation guidelines and the influence of genotype-phenotype correlation in long QT syndrome
Keywords: همبستگی ژنوتیپ-فنوتیپ; Long QT syndrome; Sports participation; Sports guidelines; Genotype-phenotype correlation;
SÃndrome cardiofaciocutáneo, un trastorno relacionado con el sÃndrome de Noonan: hallazgos clÃnicos y moleculares en 11 pacientes
Keywords: همبستگی ژنوتیپ-فنوتیپ; SÃndrome de Noonan; SÃndrome cardiofaciocutáneo; SÃndrome LEOPARD; Estenosis pulmonar valvular; MiocardiopatÃa hipertrófica; VÃa RAS-MAPK; RasopatÃa; PTPN11; BRAF; MAP2K1; Correlación genotipo-fenotipo; Noonan syndrome; Cardiofaciocutaneous syndr
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
Keywords: همبستگی ژنوتیپ-فنوتیپ; KAT6B; Genitopatellar syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Genotype-phenotype correlation
Featured ArticleA 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42
Keywords: همبستگی ژنوتیپ-فنوتیپ; Alzheimer's disease; Genetic risk profile; Genotype-phenotype correlation; CSF Aβ1-42; Onset age; Family history;
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Keywords: همبستگی ژنوتیپ-فنوتیپ; Recombination-activating gene 1; V(D)J recombination; severe combined immune deficiency; Omenn syndrome; autoimmunity; genotype-phenotype correlation; immune repertoire; A-MuLV; Abelson murine leukemia virus; CDR; Complementarity-determining region; CID-G
Syndrome branchio-oculo-facial
Keywords: همبستگی ژنوتیپ-فنوتیپ; Syndrome branchio-oculo-facial; Thymus; Affection génétique; Gène TFAP2A; Corrélation génotype-phénotype; Branchio-oculo-facial; Thymus; Genetic disorder; TFAP2A gene; Genotype-phenotype correlation;
Deficiency of Sbds in the Mouse Pancreas Leads to Features of Shwachman–Diamond Syndrome, With Loss of Zymogen Granules
Keywords: همبستگی ژنوتیپ-فنوتیپ; Acinar Cells; Recessive Inheritance; Genotype-Phenotype Correlation; Genetic ModelCKO, conditional knock out; E, embryonic day; P, postnatal day; PCR, polymerase chain reaction; Ptf1a, pancreatic transcription factor 1a; SBDS, Shwachman–Bodian Diamond syn
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1
Keywords: همبستگی ژنوتیپ-فنوتیپ; Glutaric acidemia type 1 (GA1); Glutaryl-CoA dehydrogenase (GCDH); Organic acidemia; Genotype-phenotype correlation; Common mutation
Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
Keywords: همبستگی ژنوتیپ-فنوتیپ; Colon Cancer; Genetic Susceptibility; Low Penetrance; Genotype-Phenotype Correlation; CI; confidence interval; CRC; colorectal cancer; GWAS; genome-wide association studies; HNPCC; hereditary nonpolyposis colorectal cancer; OR; odds ratio; SNP; single nuc
Genética del carcinoma medular de tiroides
Keywords: همبستگی ژنوتیپ-فنوتیپ; Carcinoma medular de tiroides; Neoplasia endocrina múltiple tipo 2 (NEM 2) Gen RET; Relación genotipo-fenotipo; Medullary thyroid carcinoma; MEN 2A (multiple endocrine neoplasia type 2); RET gene; Genotype-phenotype correlation;
The Wiskott-Aldrich syndrome
Keywords: همبستگی ژنوتیپ-فنوتیپ; Wiskott-Aldrich syndrome; X-linked thrombocytopenia; X-linked neutropenia; function of WASP; immune defects; scoring system; mutation analysis; mutational hotspots; genotype-phenotype correlation; hematopoietic stem cell transplantation; gene therapyArp2/
Identification of Multiple Serine Racemase (SRR) mRNA Isoforms and Genetic Analyses of SRR and DAO in Schizophrenia and d-Serine Levels
Keywords: همبستگی ژنوتیپ-فنوتیپ; Alternative splicing; genotype-phenotype correlation; glycine site; mutation screening; N-methyl-D-aspartate receptor; polymorphism;