Keywords: فساد اداری; Type I hyperlipoproteinemia; Lipoprotein lipase deficiency; Severe hypertriglyceridemia; Uniparental disomy; Pseudoacidosis;
مقالات ISI فساد اداری (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: فساد اداری; copy number variation; karyotyping; products of conception; single nucleotide polymorphism array; uniparental disomy
Keywords: فساد اداری; uniparental disomy; mosaicism; aneuploidy; prenatal diagnosis; genetic testing; genetic counseling
Keywords: فساد اداری; Comprehensive chromosome screening; preimplantation genetic diagnosis; SNP microarray; uniparental disomy
Keywords: فساد اداری; Non-Mendelian inheritance; Parental imprinting; Temporal imprinting; Spatial imprinting; Uniparental disomy; Nucleotide repeat expansion; Mitochondrial mutations; Multifactorial diseases; Mosaicism; Chromosomal aberrations; Polygenic disorders;
Keywords: فساد اداری; Uniparental disomy; Uniparental heterodisomy; Maternal; Chromosome 14; Temple syndrome; SNP microarray
Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults
Keywords: فساد اداری; ANTS; Advanced Normalisation Tools Software; ACC; anterior cingulate cortex; BMI; body mass index; CamBA; Cambridge Brain Analysis software; TE; echo time; FA; flip angle; GLM; general linear model; GM; grey matter; IQ; intelligence quotient; MRI; magneti
Uniparental disomy unveils a novel recessive mutation in POMT2
Keywords: فساد اداری; POMT2; LGMD; α-dystroglycan; Dystroglycanopathy; Uniparental disomy;
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome
Keywords: فساد اداری; Calcifying nested stromal-epithelial tumor (CNSET); Beckwith-Wiedemann syndrome (BWS); Uniparental disomy; Abnormal methylation at 11p15.5;
Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction
Keywords: فساد اداری; AC; abdominal circumference; BPD; biparietal diameter; CNVs; copy number variations; CDT1; chromatin licensing and DNA replication factor 1; CMA; chromosome microarray analysis; CMV; cytomegalovirus; DMRs; differentially methylated regions; ET; embryo tra
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome
Keywords: فساد اداری; Beckwith-Wiedemann syndrome; Epigenotype; Genotype; Methylation; Phenotype; BWS; Beckwith-Wiedemann syndrome; IC; imprinting center; pUPD; paternal uniparental disomy; UPD; uniparental disomy; ART; assisted reproductive technology; HRM; high-resolutio
LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Keywords: فساد اداری; aCGH, array comparative genomic hybridization; CK, creatine kinase; UPD, uniparental disomy; DAG, diacylglycerol; PA, phosphatidic acidCreatine kinase; Rhabdomyolysis; LPIN1; Lipin-1; Chromosome 2; Uniparental disomy; Treatment
Prevalence of Prader-Willi Syndrome among Infants with Hypotonia
Keywords: فساد اداری; FISH; Fluorescent in situ hybridization; PWS; Prader-Willi syndrome; UPD; Uniparental disomy;
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader–Willi syndrome
Keywords: فساد اداری; Prader–Willi syndrome; Uniparental disomy; Mosaic; Isodisomy
Original articleEtiological yield of SNP microarrays in idiopathic intellectual disability
Keywords: فساد اداری; SNP microarray; Intellectual disability; NRXN1; FOXP2; UBE2A; Uniparental disomy; Subtelomeric rearrangements;
Short CommunicationPrenatal diagnosis of partial trisomy 3q (3q27.3âqter) and partial monosomy 14q (14q31.3âqter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
Keywords: فساد اداری; Dup; duplication; del; deletion; pat; paternal; mat; maternal; UPD; uniparental disomy; ACGH; array comparative genomic hybridization; FISH; fluorescence in situ hybridization; QF-PCR; quantitative fluorescent polymerase chain reaction; t; translocation;
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism
Keywords: فساد اداری; Congenital hyperinsulinaemic hypoglycaemia; Hepatoblastoma; Beckwith–Wiedemann syndrome; Uniparental disomy; Chromosome 11p
Aggressive Transformation of Juvenile Myelomonocytic Leukemia Associated with Duplication of Oncogenic KRAS due to Acquired Uniparental Disomy
Keywords: فساد اداری; 6-MP; 6-mercaptopurine; JMML; Juvenile myelomonocytic leukemia; MAPK; Mitogen-activated protein kinase; PBMC; Peripheral blood mononuclear cell; SNP; Single nucleotide polymorphism; UPD; Uniparental disomy;
Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders
Keywords: فساد اداری; BWS; Beckwith-Wiedemann syndrome; ICR; Imprinting control region; ID; Imprinting disorder; MLMD; Multilocus methylation defect; SRS; Silver-Russell syndrome; TNDM; Transient neonatal diabetes mellitus; UPD; Uniparental disomy;
Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
Keywords: فساد اداری; Recessive congenital methemoglobinemia; Uniparental disomy; NADH-cytochrome b5 reductase; CYB5R3 gene; Microsatellite genotyping
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16
Keywords: فساد اداری; MPS IVA; Morquio A syndrome; Chromosome 16; Uniparental disomy; UPD; GALNS;
Analysis of EEG patterns and genotypes in patients with Angelman syndrome
Keywords: فساد اداری; Angelman; Deletion; Uniparental disomy; Imprinting defects; EEG abnormalities; UBE3A mutation; Prader-Willi; Chromosome 15; Rhythmic theta; Rhythmic delta;
Acquired Uniparental Disomy in Myeloproliferative Neoplasms
Keywords: فساد اداری; Myeloproliferative neoplasm; Uniparental disomy; SNP array; TET2; CBL; EZH2; JAK2;
Clinically Relevant Subsets Identified by Gene Expression Patterns Support a Revised Ontogenic Model of Wilms Tumor: A Children's Oncology Group Study
Keywords: فساد اداری; WT; Wilms tumor; ICR1; imprint control region 1; ICR2; imprint control region 2; MM; metanephric mesenchyme; LOI; loss of imprinting; LOH; loss of heterozygosity; ROI; retention of imprinting; UPD; uniparental disomy;
Single Nucleotide Polymorphism Microarray Analysis in Cortisol-Secreting Adrenocortical Adenomas Identifies New Candidate Genes and Pathways
Keywords: فساد اداری; ACA; adrenocortical adenoma; ACC; adrenocortical carcinoma; CGH; comparative genomic hybridization; CNA; copy number alteration; cnLOH; copy-neutral loss of heterozygosity; FISH; fluorescence in situ hybridization; LOH; loss of heterozygosity; qRT-PCR; qu
Anomalies chromosomiques limitées au placenta a priori d’origine méiotique : à propos de dix cas
Keywords: فساد اداری; Anomalies chromosomiques limitées au placenta; Origine méiotique; Disomie uniparentale; Prématurité; Hypotrophie néonataleConfined placental mosaicism; Meiotic origin; Uniparental disomy; Prematurity; Neonatal hypotrophy
Multiple meningioma with different grades of malignancy: Case report with genetic analysis applying single-nucleotide polymorphism array and classical cytogenetics
Keywords: فساد اداری; Multiple meningioma; Cytogenetics; Uniparental disomy
Intracranial hemangiopericytoma: Case study with cytogenetics and genome wide SNP-A analysis
Keywords: فساد اداری; Hemangiopericytoma; Cytogenetics; Uniparental disomy;
Clinical Utility of Single Nucleotide Polymorphism Arrays
Keywords: فساد اداری; Single nucleotide polymorphism microarray; Prenatal arrays; Oncology arrays; Uniparental disomy; Runs of homozygosity; Consanguinity;
Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations
Keywords: فساد اداری; Preimplantation genetic diagnosis; preimplantation genetic screening; Robertsonian translocation; reciprocal translocation; short tandem repeats; pregnancy outcome; aneuploidy origin; uniparental disomy; blastocyst; chromosomal abnormalities;
Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations
Keywords: فساد اداری; Microarray; Single nucleotide polymorphism; Homozygosity; Autozygosity; Consanguinity; Uniparental disomy;
Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype
Keywords: فساد اداری; Imprinting; UBE3A; CHRNA7; Uniparental disomy; Febrile seizures; Epilepsy; Prader-Willi syndrome
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease
Keywords: فساد اداری; Pelizaeus–Merzbacher-like disease; Uniparental disomy; Gap junction alpha 12; Mutation
Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes
Keywords: فساد اداری; ABCA3; ATP binding cassette subfamily A, member 3; ABCA3; ABCA3 gene; PCR; Polymerase chain reaction; SP-B; Surfactant protein-B; SFTPB; SP-B gene; SP-C; Surfactant protein-C; SFTPC; SP-C gene; UPD; Uniparental disomy;
Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine
Keywords: فساد اداری; aCGH; Microarray-based comparative genomic hybridization; AML; Acute myeloid leukemia; ASD; Autism spectrum disorder; BAC; Bacterial artificial chromosome; CNV; Copy number variation; DD; Developmental delay; FISH; Fluorescent in situ hybridization; MCA;
Dorsal and ventral stream mediated visual processing in genetic subtypes of Prader–Willi syndrome
Keywords: فساد اداری; Fragile-X syndrome; Paternal deletion; Uniparental disomy; Dorsal stream deficit; Dorsal stream vulnerability; Chromosome 15
Síndrome de Prader Willi: estudio de 77 pacientes
Keywords: فساد اداری; Síndrome de Prader-Willi; Enfermedad genética; Disonomía unipaentalPrader-Willi syndrome; Genetic disease; Uniparental disomy
Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa
Keywords: فساد اداری; Herlitz disease; Laminin 332; Mendelian recessive outlaws; Uniparental disomy; UPD;
Epigenetics in Silver-Russell syndrome
Keywords: فساد اداری; Silver-Russell syndrome; genomic imprinting; uniparental disomy; chromosome 11p15 region; chromosome 7
Mitotic recombination and uniparental disomy in Beckwith–Wiedemann syndrome
Keywords: فساد اداری; Uniparental disomy; Recombination; Beckwith–Wiedemann syndrome; Genomic imprinting
Molecular Genetic Diagnostics of Prader-Willi Syndrome: a Validation of Linkage Analysis for the Chinese Population
Keywords: فساد اداری; Prader-Willi Syndrome; uniparental disomy; obesity; genomic imprinting; linkage analysis
Restricted co-expression of Dlk1 and the reciprocally imprinted non-coding RNA, Gtl2: Implications for cis-acting control
Keywords: فساد اداری; Dlk1; Gtl2; Imprinting; Non-coding RNA; Insulator; Uniparental disomy; Mouse development
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity
Keywords: فساد اداری; ANOVA; Analysis of variance; BASC; Behavioral Assessment System for Children; CGH; Comparative genomic hybridization; EMO; Early-onset morbid obesity of unknown cause; GIA; General Intellectual Ability; IBW; Ideal body weight; PKU; Phenylketonuria; PWS; P
Common neonatal syndromes
Keywords: فساد اداری; Fluorescence in situ hybridisation (FISH); Telomere; Uniparental disomy; Imprinting;