[PDF] Top 20 MUTATION ANALYSIS OF INDONESIAN MENTALLY RETARDED INDIVIDUALS WITH MICROCEPHALY AND MACROCEPHALY - Diponegoro University | Institutional Repository (UNDIP-IR)

... Pada individu dengan retardasi mental dapat ditemukan gejala dan tanda lain yang dapat memberi petunjuk ke arah diagnosis yang lebih spesifik, seperti mikrosefali dan makrosefali. Mutasi pada gen-gen autosomal recessive ... Lihat dokumen lengkap

... deletions, and small insertions mutations of ASPM, WDR62, CENPJ, CDK5RAP2, MCPH1 and STIL genes in MR individuals with microcephaly, which made up ...9.1% of all 527 MR ... Lihat dokumen lengkap

... done and samples were requested from the parents and at least available two ...sequenced and analysed for the presence of the unknown variants (Figure ... Lihat dokumen lengkap

... phenotype of mental retardation with either microcephaly or macrocephaly, while MCPH in this research is an autosomal recessive ...cause of unexplained mental retardation is de novo ... Lihat dokumen lengkap

... American Psychiatric Association. 1994. Diagnostic and Statistical Manual of Mental Disorders 4 th Ed. Washington DC: American Psychiatric Association. Ashwal S, Michelson D, Plawner L. 2009. Practice ... Lihat dokumen lengkap

... List of Single Nucleotide Polymorphisms The list of Single Nucleotide Polimorphism SNP of ASPM gene among children with microcephaly The list of Single Nucleotide Polimorphism SNP [r] ... Lihat dokumen lengkap

... consisted of 835 amino ...proximity of lateral ventricles which holds progenitor cells that produce neuron which later form the cerebral cortex (Jackson, ...control and DNA repair, as well as ... Lihat dokumen lengkap

... disorder, with the National Survey report of 384,818 persons being mentally retarded in the year 2000, which counts for ...0.19% of the country population at that time (National Survey, ... Lihat dokumen lengkap

... population of mentally retarded (MR) individuals in the previous study, 48 MR individuals with microcephaly and 10 MR individuals with ... Lihat dokumen lengkap

... contrast with previous research which shown higher number of male with Down syndrome than female with ...newborn with Down syndrome is ...case of trisomy 21, which is appeared to ... Lihat dokumen lengkap

... expression of interest gene via RNase H-dependent mechanism or manipulating aberrant transcript caused by splicing ...groups of AON are known: RNase H-dependent oligonucleotides, which degrade mRNA, ... Lihat dokumen lengkap

... Selection of 32 epilepsy mentally retarded patients from total 527 mentally retarded patients in Semarang and Bandung special schools from previous studies 1 ...guardian ... Lihat dokumen lengkap

... type of micro minerals that play an important role in the body's physiological ...0.00004% of body weight or about 15-23 ...mammals and the human body as a thyroid ...formation and to regulate ... Lihat dokumen lengkap

... pupils, and retinal ...about Indonesian LCA ...intronic mutation in the CEP290 ...in Indonesian LCA patients and in-vitro AON-based therapy for ... Lihat dokumen lengkap

... one of the most severe retinal dystrophies due to early onset and severe visual ...development and physiological ...linkage analysis, homozygosity mapping and candidate gene ... Lihat dokumen lengkap

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... All of the patients have a severe visual loss before the first year of ...all of them. Patients also developed sensory nystagmus and amaurotic ...out of four patients. Patient number ... Lihat dokumen lengkap

... plates and washed with ...tube, and protein concentration was measured using BCA protein assay (Thermo Scientific, Rockford, ...mixture of 100 µg of total protein was prepared, 80 µg ... Lihat dokumen lengkap

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