@artikel{Shuib201777,
tajuk = {Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan},
pengarang = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&rakan kongsi = 40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9},
terbitan = {01268635},
tahun = {2017},
tarikh = {2017-01-01},
jurnal = {Jurnal Patologi Malaysia},
isi padu = {39},
nombor = {1},
halaman = {77-81},
penerbit = {Persatuan Pakar Patologi Malaysia},
abstrak = {Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara.},
nota = {dipetik oleh 0},
kata kunci = {Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Kuan20101022,
tajuk = {Development of an effective assessment and training support system for cognitive ability for special children},
pengarang = {T M Kuan and E Supriyanto and Y K Jiar and Y E Han},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77958107712&rakan kongsi = 40&md5=2ec5c3ecbb54c2ebde0e55834dd2ae56},
terbitan = {11092750},
tahun = {2010},
tarikh = {2010-01-01},
jurnal = {WSEAS Transactions on Computers},
isi padu = {9},
nombor = {9},
halaman = {1022-1031},
abstrak = {In definition, special children include children who are having Down syndrome, autisme, global delay, epilepsy, slow learner and others. Dalam kajian ini, the special children are focused on children with Down syndrome. Down syndrome occurs due to an extra copy of chromosome 21 in the children's chromosome. Early intervention Program (EIP) is a systematic program with therapy, exercises, and activities which designed to help children especially special children. Cognitive development is the construction of thought processes, which is one of the most important skills that have to be developed for Down syndrome children in order to lead a normal life. This support system is focused mainly to help them improving their logical thinking and memory skills. This cognitive assessment and training support system utilizes the radio frequency identification (RFID) technology implemented in C Sharp programming language. The completed system was then tested and feedback was obtained from parents or trainers of Down syndrome children. The results show that the system can generate results in graphical form stably and training for improving the cognitive ability of the children is reliable based on global recognized curriculum. Kesimpulannya, the system can be used in order to help trainers or parents to improve the cognitive ability of children with Down syndrome.},
nota = {dipetik oleh 0},
kata kunci = {Assessment and Training, Kromosom, Cognitive Ability, Kurikulum, Campur Tangan Awal, Radio Frequency Identification (RFID), RFID, Special Children, Support System},
pubstate = {diterbitkan},
tppubtype = {artikel}
}