Keywords: TCN1; transcobalamin I (vitamin B12 binding protein, R binder family); COL4A4; collagen type IV, alpha 4; SAL1; salivary lipocalin; HP; haptoglobin; CILP; cartilage intermediate layer protein, nucleotide pyrophosphohydrolase; IL8; interleukin 8, interleuk
مقالات ISI (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: GnRH neurons; Kisspeptin neurons; Female puberty; Chromatin modifications; DNA methylation; Transcriptional repression; Transcriptional activation; Epigenetic regulators; microRNAs; Long noncoding RNAs; 5hmC; 5-hydroxymethylcytosine; 5-mC; 5-methylcytosin
Atopic disorders in CHARGE syndrome: A retrospective study and literature review
Keywords: Allergy; Atopic disorders; CHARGE syndrome; CHD7;
Epigenetic crosstalk: Pharmacological inhibition of HDACs can rescue defective synaptic morphology and neurotransmission phenotypes associated with loss of the chromatin reader Kismet
Keywords: Drosophila; Kismet; HDAC; HDAC inhibitors; CHARGE syndrome; CHD7;
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12âq13.1::) associated with phenotypic abnormalities
Keywords: CHD7; chromosome 8q12 duplication syndrome; mosaicism; ring chromosome 8; small supernumerary marker chromosome 8;
Chromatin remodeling enzyme CHD7 is necessary for osteogenesis of human mesenchymal stem cells
Keywords: MSC; Osteogenesis; CHD7; SMAD1; Enhancer;
The Immune Phenotype of Patients with CHARGE Syndrome
Keywords: CHARGE syndrome; 22q11.2 deletion syndrome; Lymphopenia; Specific antibody deficiency; CHARGE; Coloboma, Heart disease, choanal Atresia, growth/mental Retardation, Genitourinary malformations, Ear abnormalities; CHD7; Chromodomain Helicase DNA-binding pro
Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome
Keywords: CHD; chromodomain helicase DNA-binding; PGM; personal genome machine; HGMD; Human Gene Mutation Database; PTC; premature termination codon; NMD; nonsense mediated decay; CHARGE syndrome; CHD7; Novel mutation;
A novel CHD7 mutation in a Chinese patient with CHARGE syndrome
Keywords: CHARGE syndrome; CHD7; Gene mutation
Evaluation of CHD7 as a candidate gene for choanal atresia in alpacas (Vicugna pacos)
Keywords: Alpacas; Choanal atresia; Craniofacial malformation; CHD7;
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)
Keywords: AB; Acidic domain; CHD7; Chromodomain-helicase-DNA-binding protein 7; EndoH; Endo-beta-N-acetylglucosaminidase H or endoglycosidase H; FGF; Fibroblast growth factor; FGFR; Fibroblast growth factor receptor; GnRH; Gonadotropin-releasing hormone; GNRHR; Gon
Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome
Keywords: CHARGE syndrome; chd7; fbxl10; Zebrafish; Cell proliferation; rRNA;
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
Keywords: CHD7; Duplication 8q12; SNP array; Dosage sensitive gene; Copy number variation; CNV; Congenital heart defect;
Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice
Keywords: CHD7; Semicircular canal; Cristae; Chromatin remodeling; Gene regulation; Inner ear morphogenesis
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome
Keywords: CHARGE syndrome; CHD7; Mutation; MLPA; Detection rate; Clinical variability
Clinical genetics of Kallmann syndrome
Keywords: Syndrome de Kallmann-de Morsier; Syndrome CHARGE; Hypogonadisme hypogonadotrope; Anosmie; KAL1; FGFR1; FGF8; PROKR2; PROK2; CHD7Kallmann syndrome; CHARGE syndrome; Hypogonadotropic hypogonadism; Anosmia; KAL1; FGFR1; FGF8; PROKR2; PROK2; CHD7
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
Keywords: CHARGE syndrome; CHD7; MLPA; Whole exon deletion; Whole exon duplication
Solution Structure of the BRK Domains from CHD7
Keywords: CHD, chromodomain helicase DNA binding domain; GST, glutathione S-transferase; HSQC, heteronuclear single-quantum coherence; NOE, nuclear Overhauser enhancement; NOESY, NOE spectroscopychromatin; CTCF; CHD7; CHARGE syndrome
Immunological abnormalities in CHARGE syndrome
Keywords: CHARGE syndrome; CHD7; DiGeorge sequence; Microdeletion 22q11; Thymic hypoplasia; Thymic aplasia; Immunodeficiency; T-cell; Cell-mediated