@artikel{Hnoual2017,
tajuk = {Analisis microarray kromosom dalam kohort populasi yang kurang diwakili mengenal pasti SERINC2 sebagai gen calon baru untuk gangguan spektrum autisme},
pengarang = {A Hnoonual dan W Thammachote dan T Tim-Aroon dan K Rojnueangnit dan T Hansakunachai dan T Sombuntham dan R Roongpraiwan dan J Worachotekamjorn dan J Chuthapisith dan S Fucharoen dan D Wattanasirichaigoon dan N Ruangdaraganon dan P Limprasert dan N Jinawath},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85029864969&doi=10.1038/s41598-017-12317-3&rakan kongsi = 40&md5=3c1b6a0c064665aab8ace8e8f58c2b01},
doi = {10.1038/s41598-017-12317-3},
terbitan = {20452322},
tahun = {2017},
tarikh = {2017-01-01},
jurnal = {Laporan Saintifik},
isi padu = {7},
nombor = {1},
penerbit = {Kumpulan Penerbitan Alam},
abstrak = {Mikroarray kromosom (CMA) kini diiktiraf sebagai ujian genetik peringkat pertama untuk pengesanan variasi nombor salinan (CNV) pada pesakit dengan gangguan spektrum autisme (ASD). Matlamat kajian ini adalah untuk mengenal pasti ASD-CNV yang diketahui dan baru yang berkaitan dan untuk menilai hasil diagnostik CMA dalam pesakit Thai dengan ASD. Infinium CytoSNP-850K BeadChip telah digunakan untuk mengesan CNV dalam 114 Pesakit Thai terdiri daripada 68 pesakit ASD retrospektif (kumpulan 1) dengan penggunaan CMA sebagai ujian baris kedua dan 46 bakal pesakit ASD dan kelewatan perkembangan (kumpulan 2) dengan penggunaan CMA sebagai ujian peringkat pertama. Kami mengenal pasti 7 (6.1%) CNV patogenik dan 22 (19.3%) varian kepentingan klinikal yang tidak pasti (ANDA). Sejumlah 29 pesakit dengan CNV patogen dan VOUS ditemui di 22% (15/68) dan 30.4% (14/46) daripada pesakit dalam kumpulan 1 dan 2, masing-masing. Perbezaan frekuensi CNV yang dikesan antara 2 kumpulan tidak signifikan secara statistik (Chi kuasa dua = 1.02},
nota = {dipetik oleh 6},
kata kunci = {Remaja, Autisme, Gangguan Spektrum Autisme, Anak-anak, Pemetaan Kromosom, Pemetaan Kromosom, Analisis Kohort, Kajian Kohort, Variasi Nombor Salin, Variasi Nombor Salinan DNA, Perempuan, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Genetik, Manusia, Bayi, Lelaki, Protein Membran, Protein Membran, Analisis Mikroarray, Polimorfisme, Prasekolah, Kanak-kanak Prasekolah, Prosedur, SERINC2 Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Haerian2015229,
tajuk = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia},
pengarang = {B S Haerian and H M Shaári and H J Tan and C Y Fong and S W Wong and L C Ong and A A Raymond and C T Tan and Z Mohamed},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924135981&doi=10.1016%2fj.ygeno.2015.02.001&rakan kongsi = 40&md5=209a1720cddfd76bfa515ee8940749d5},
doi = {10.1016/j.ygeno.2015.02.001},
terbitan = {08887543},
tahun = {2015},
tarikh = {2015-01-01},
jurnal = {Genomics},
isi padu = {105},
nombor = {4},
halaman = {229-236},
penerbit = {Academic Press Inc.},
abstrak = {RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.},
nota = {dipetik oleh 5},
kata kunci = {Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Brett2014,
tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel},
pengarang = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db},
doi = {10.1371/jurnal.pone.0093409},
terbitan = {19326203},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {PLoS SATU},
isi padu = {9},
nombor = {4},
penerbit = {Perpustakaan Awam Sains},
abstrak = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.},
nota = {dipetik oleh 20},
kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal},
pubstate = {diterbitkan},
tppubtype = {artikel}
}

@artikel{Tan2012210,
tajuk = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)},
pengarang = {E H Tan and S A Razak and J M Abdullah and A A Mohamed Yusoff},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870296042&doi=10.1016%2fj.eplepsyres.2012.08.004&rakan kongsi = 40&md5=25cc4eeb07db2492a7c04c6b3b3b2167},
doi = {10.1016/j.eplepsyres.2012.08.004},
terbitan = {09201211},
tahun = {2012},
tarikh = {2012-01-01},
jurnal = {Epilepsy Research},
isi padu = {102},
nombor = {3},
halaman = {210-215},
abstrak = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V.},
nota = {dipetik oleh 2},
kata kunci = {Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene},
pubstate = {diterbitkan},
tppubtype = {artikel}
}