Keywords: X غیرفعال کردن; Autism Spectrum Disorder; Sex differences; Increased male incidence; Sex chromosome; Genomic imprinting; X-inactivation; Testosterone; Prenatal stress; Maternal immune activation; Gene-environment interaction;
مقالات ISI X غیرفعال کردن (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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.
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
Keywords: X غیرفعال کردن; ZC4H2; Arthrogryposis multiplex congenita (AMC); Progressive brain atrophy; X-inactivation; Spastic quadriplegia;
Exome sequence identified a c.320AÂ >Â G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature
Keywords: X غیرفعال کردن; Congenital disorder of glycosylation; CDG Is; ALG13; X-inactivation;
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy
Keywords: X غیرفعال کردن; Emery-Dreifuss muscular dystrophy; Emerin; EMD; Myoblast differentiation; X-inactivation;
X marks the spot: Does it matter that O-GlcNAc Transferase is an X-linked gene?
Keywords: X غیرفعال کردن; O-GlcNAc Transferase; O-GlcNAcylation; X-linked gene; X-inactivation; Embryogenesis;
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
Keywords: X غیرفعال کردن; CHILD, Congenital hemidysplasia, Ichthyosis and Limb Defects; EBP, emopamil binding protein; NSDHL, NAD(P)H steroid dehydrogenase-like; SC, stratum corneum; SG, stratum granulosum; SS, stratum spinosumIchthyosis; Lipids; X-inactivation; CHILD syndrome; St
Maternal bias and escape from X chromosome imprinting in the midgestation mouse placenta
Keywords: X غیرفعال کردن; Placenta; X-inactivation; Imprinting; Parent-of-origin bias; RNA sequencing;
Guided by RNAs: X-Inactivation as a Model for lncRNA Function
Keywords: X غیرفعال کردن; lncRNA, long non-coding RNA; XCI, X-chromosome inactivation; XIC, X-inactivation center; Xi, inactive X; Xa, active X; PRC2, polycomb repressive complex 2; a-RNA, activating RNAlong non-coding RNA; X-inactivation; polycomb complexes
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Keywords: X غیرفعال کردن; MECP2 duplication; Xq28 duplication; X-inactivation; Mental retardation in females; IRAK1
X-chromosome inactivation in monkey embryos and pluripotent stem cells
Keywords: X غیرفعال کردن; X-inactivation; Embryonic stem cells; Blastocyst; Inner cell mass; Primates
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
Keywords: X غیرفعال کردن; Complex I; NDUFA1; X-inactivation; Respiratory chain; Mitochondrial energy metabolism
Symptomatic dystrophinopathies in female children
Keywords: X غیرفعال کردن; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; CK; creatine kinase; CPNG; Canadian Pediatric Neuromuscular Group; OCD; obsessive compulsive disorder; IHC; immunohistochemistry; Dystrophinopathy; Pediatric; Female; Duchenne muscular dyst
Sex Chromosomes and Sex Chromosome Abnormalities
Keywords: X غیرفعال کردن; Sex chromosome; Sex chromosome abnormalities; X-inactivation; Mosaicism; X-linked mental retardation;
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients
Keywords: X غیرفعال کردن; Xq22.1 deletion; Mental retardation; Behavioural disorders; Hypotonia; X-inactivation; NXF5; NXF2
Epigenetics, an emerging discipline with broad implications
Keywords: X غیرفعال کردن; Epigenetic; Development; Polycomb; Trithorax; DNA methylation; Histone methylation; Genomic imprinting; X-inactivation; Paramutation
X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
Keywords: X غیرفعال کردن; CGD; X-inactivation; Flavocytochrome b558; Neutrophil; Carrier; gp91phox; CYBB; NADPH oxidase; Primary immunodeficiency
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study
Keywords: X غیرفعال کردن; X-linked myotubular myopathy; Female carrier; Symptomatic heterozygote; X-inactivation; Diaphragmatic paresis;
Switch in X-inactivation in a JAK2 V617F-negative case of polycythemia vera with two acquired X-autosome translocations
Keywords: X غیرفعال کردن; Polycythemia vera; X-inactivation; JAK2 V617F-negative; X-autosome translocation
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata
Keywords: X غیرفعال کردن; CDPX2; EBP; Chondrodysplasia punctata; X-inactivation; Reduced penetrance; Intrafamilial phenotypic variability
X-inactivation and the dynamic maintenance of gene silencing
Keywords: X غیرفعال کردن; X-inactivation; Heterochromatin; Epigenetic; Silencing; Histone; Methylation; Xist; LINE; Trans
The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders
Keywords: X غیرفعال کردن; ADHD; Amygdala; Autism; Brain; Genomic imprinting; Haploinsufficiency; X-inactivation; X chromosome
Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
Keywords: X غیرفعال کردن; MIDAS; Xp deletion; X-inactivation; Chromosomal mosaicism; Phenotypic variability
Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG
Keywords: X غیرفعال کردن; HIGM, hyper-IgM syndrome; CD40LG, CD40 ligand; CD40-Ig, human CD40 coupled with the Fc domain of human IgG1Primary Immunodeficiency; B lymphocyte; T lymphocyte; CD40 ligand; Balanced translocation; X-inactivation
The impact of chromosomal alteration on embryo development
Keywords: X غیرفعال کردن; Chromosome; X-inactivation; Telomere; Telomerase; Aneuploidy; Polyploidy; Embryo
Temporal shift in methyl-CpG binding protein 2 expression in a mouse model of Rett syndrome
Keywords: X غیرفعال کردن; X-inactivation; methyl CpG-binding protein 2; cerebral cortex; stereologyHET, heterozygous; ICC, immunocytochemistry; MECP2/MeCP2, methyl-CpG binding protein 2; NeuN, neuronal nuclei specific protein; NGS, normal goat serum; PBS, phosphate-buffered saline
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms
Keywords: X غیرفعال کردن; Rett syndrome (RTT); Methyl-CpG-binding protein 2 gene (MECP2); Single nucleotide polymorphism (SNP); X-inactivation;
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
Keywords: X غیرفعال کردن; NSDHL; Placenta; X-inactivation; Cholesterol biosynthesis; Bare patches; CHILD syndrome;