| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ting Chen; Peih-Shan Wu; Jun-Wei Su; Chen-Wen Pan; Wayseen Wang |
 |
| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Partial trisomy 1q (1q42.13->qter) and partial monosomy 6q (6q27->qter) in a girl with single median maxillary central incisor, dysgenesis of corpus callosum and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Prenatal diagnosis of mosaic tetrasomy 18p |
Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-12-01 |
Prenatal diagnosis of trisomy 8 mosaicism |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ting Chen; Jun-Wei Su; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Ming-Ren Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Peng Liu; Jun-Wei Su; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Pure partial monosomy 3p (3p25.3->pter): prenatal diagnosis and array comparative genomic hybridization characterization |
Chih-Ping Chen; Yi-Ning Su; Chen-Yu Chen; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester |
Chih-Ping Chen; Yi-Ning Su; Shun-Long Weng; Fuu-Jen Tsai; Chen-Yu Chen; Yu-Peng Liu; Schu-Rern Chern; Wen-Lin Chen; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase FISH, QF-PCR and aCGH on uncultured amniocytes in a pregnancy with fetal pyelectasis |
Chih-Ping Chen; Shuenn-Dyh Chang; Yi-Ning Su; Ming Chen; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Wen-Lin Chen; Chen-Wen Pan; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes |
Chih-Ping Chen; Shuenn-Dyh Chang; Ho-Yen Chueh; Yi-Ning Su; Jun-Wei Su; Schu-Rern Chern; Yu-Ting Chen; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Li-Feng Chen; Meng-Shan Lee; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-09-01 |
Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly |
Chih-Ping Chen; Yi-Ning Su; Yi-Yung Chen; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II |
Chih-Ping Chen; Yi-Ning Su; Fang-Yu Hung; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Identification of a deletion mutation in the short flanking repeat region of exon 44 of COL1A1 gene in a fetus with osteogenesis imperfecta type II |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements |
Chih-Ping Chen; Ming Chen; Yi-Ning Su; Jian-Pei Huang; Gwo-Chin Ma; Shun-Ping Chang; Schu-Rern Chern; Yu-Ting Chen; Jun-Wei Su; Chen-Chi Lee; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Ming-Chao Huang; Chun-Heng Pan; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations |
Chih-Ping Chen; Hsien-Ming Lin; Cheung Leung; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene |
Chih-Ping Chen; Schu-Rern Chern; Tung-Yao Chang; Yi-Ning Su; Yi-Yung Chen; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Pure distal 9p deletion in a female infant with cerebral palsy |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-06-01 |
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jian-Pei Huang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3 |
Chih-Ping Chen; Yi-Hui Lin; Szu-Yuan Chou; Yi-Ning Su; Schu-Rern Chern; Yu-Ting Chen; Dai-Dyi Town; Wen-Lin Chen; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Prenatal diagnosis of partial trisomy 16p (16p12.2->pter) and partial monosomy 22q (22q13.31->qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester |
Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Chin-Yuan Hsu; Yi-Yung Chen; Jun-Wei Su; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Dai-Dyi Town; Li-Feng Chen; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism |
Chih-Ping Chen; Hsu-Kuang Huang; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism |
Chih-Ping Chen; Yi-Ning Su; Ming Chen; Fuu-Jen Tsai; Yi-Yung Chen; Gwo-Chin Ma; Shun-Ping Chang; Jun-Wei Su; Yu-Ting Chen; Wen-Lin Chen; Li-Feng Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2012-03-01 |
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities |
Chih-Ping Chen; Yi-Ning Su; Chih-Long Chang; Yi-Yung Chen; Jun-Wei Su; Schu-Rern Chern; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
A 20.5-Mb germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation |
Chih-Ping Chen; Ling-Yuh Kao; Yi-Ning Su; Ming Chen; Shueen-Dyh Chang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings |
Chih-Ping Chen; Hsu-Kuaing Huang; Pei-Ying Lin; Yi-Ning Su; Ming Chen; Fuu-Jen Tsai; Pei-Chen Wu; Schu-Rern Chern; Yu-Ting Chen; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy |
Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Schu-Rern Chern; Chen-Chi Lee; Yu-Ting Chen; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly |
Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Yu-Peng Liu; Schu-Rern Chern; Li-Feng Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
Prenatal diagnosis of mosaic trisomy 9 |
Chih-Ping Chen; Fang-Yu Hung; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Yu-Ting Chen; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-12-01 |
Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion |
Chih-Ping Chen; Yi-Ning Su; Yi-Yung Chen; Jun-Wei Su; Schu-Rern Chern; Yu-Ting Chen; Wen-Lin Chen; Li-Feng Chen; Wayseen Wang. |
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| [生物醫學研究所] 期刊論文 |
2011-11-01 |
Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis |
Chia-Cheng Hung; Shin-Yu Lin; Shuan-Pei Lin; Chih-Ping Chen; Lang-Yao Chen; Chien-Nan Lee; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Li-Feng Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia and intrauterine growth restriction |
Chih-Ping Chen; Yi-Ning Su; Yi-Yung Chen; Schu-Rern Chern; Yu-Peng Liu; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
De novo duplication Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure |
Chih-Ping Chen; Yi-Ning Su; Hung-Hung Lin; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses |
Chih-Ping Chen; Shuan-Pei Lin; Ming Chen; Yi-Ning Su; Schu-Rern Chern,; Tao-Yeuan Wang; Yu-Peng Liu; Fuu-Jen Tsai; Chen-Chi Lee; Yen-Jiun Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation |
Chih-Ping Chen; Yi-Ning Su; Ming Chen; Jian-Pei Huang; Fuu-Jen Tsai; Pei-Chen Wu; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene |
Chih-Ping Chen; Yi-Ning Su; Yu-Ting Chen; Wen-Lin Chen; Lee James Hsu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Prenatal diagnosis of microvillus inclusion disease |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction |
Chih-Ping Chen; Yi-Ning Su; Shin-Yu Lin; Schu-Rern Chern; Yu-Ting Chen; Meng-Shan Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review |
Chih-Ping Chen; Ming Chen; Yi-Ju Pan; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-09-01 |
Self-injurious behavior associated with trisomy 9p (9p13.1→p24.3) |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis |
Chih-Ping Chen; Jui-Der Liou; Chi-Hsin Chiang,; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Yu-Ting Chen; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization |
Chih-Ping Chen; Yi-Ning Su; Fuu-Jen Tsai; Ming-Huei Lin; Pei-Chen Wu; Schu-Rern Chern; Chen-Chi Lee; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10) del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly |
Chih-Ping Chen; Yau-Kun Kuo; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-06-01 |
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4 |
Chih-Ping Chen; Ming Chen; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Pei-Chen Wu; Wen-Lin Chen; Li-Feng Chen; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2011-05-01 |
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene |
Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Chih-Ping Chen; Shuan-Pei Lin; Mei-Chyn Chao; Shyh-Shin Chiou; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2011-03-01 |
Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Chin-Yuan Hsu; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Meng-Shan Lee; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2011-03-01 |
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations |
Chih-Ping Chen; Yi-Ning Su; Shin-Yu Lin; Chih-Long Chang; Yeou-Lih Wang; Jiau-Pei Huang; Chen-Yu Chen; Fang-Yu Hung; Yi-Yung Chen; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Balanced reciprocal translocations detectred at amniocentesis |
Chih-Ping Chen; Pei-Chen Wu; Chen-Ju Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Li-Feng Chen; Meng-Shan Lee; Chen-Wen Pan; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling |
Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Po-Tsang Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Partial trisomy 10q (10q25.1→qter) and partial monosomy 13q (13q34→qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization |
Chih-Ping Chen; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Chin-Yuan Hsu; Pei-Chen Wu; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization |
Chih-Ping Chen; Yi-Ning Su; Richard Shih-Hung Young; Fuu-Jen Tsai; Pei-Chen Wu; Schu-Rern Chern; Dai-Dyi Town; Chen-Wen Pan; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2010-12-01 |
Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling |
Chih-Ping Chen; Ming-Chao Huang; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Dai-Dyi Town; Chen-Wen Pan; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and dsomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization |
Chih-Ping Chen; Yung-Ting Guo; Shuan-Pei Lin; Yi-Ning Su; Yann-Jang Chen; Rui-Yuan Hseuh; Yi-Hui Lin; Pei-Chen Wu; Chen-Chi Lee,; Yu-Ting Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ming Hwu; Shuan-Pei Lin; Chyong-Hsin Hsu; Fuu-Jen Tsai; Tao-Yeuan Wang; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Li-Feng Chen; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses |
Chih-Ping Chen; Hsien-Ming Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Meng-Shan Lee; Chen-Wen Pan; Wayseen Wang |
|
| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 22 |
Chih-Ping Chen; Chyi-Chyang Lin; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Chen-Chi Lee; Wen-Ling Chen; Li-Feng Chen; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly |
Chih-Ping Chen; Ming Chen; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Chin-Yuan Hsu; Pei-Chen Wu; Dai-Dyi Town; Dong-Jay Lee; Gwo-Chin Ma; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-09-01 |
Prenatal diagnosis of rhabdomyomas and cerebral tuberous sclerosis by magnetic resonance imaging in one fetus of a dizygotic twin pregnancy associated with a frameshift mutation in the TSC2 gene |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Yu-Peng Liu; Fuu-Jen Tsai; Ming-Ren Chen; Jonathan Kwei Hwang; Teresa Hsiao-Tien Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux including polyhydramnios in the third trimester |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Chen-Yu Chen; Fuu-Jen Tsai; Yu-Peng Liu; Schu-Rern Chern; Pei-Chen Wu; Hsaio-En Cindy Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Detection and comparison of the cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Tao-Yeuan Wang; Fuu-Jen Tsai; Hung-Hung Lin; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Fetal magnetic resonance imaging demonstration of central nervous system abnormalities and polydactyly associated with Joubert syndrome |
Chih-Ping Chen; Yi-Ning Su; Jon-Kway Huang; Yu-Peng Liu; Fuu-Jen Tsai; Chun-Kuang Yang; Jian-Pei Huang; Chen-Yu Chen; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Hsaio-En Cindy Chen; Shu-Shien Chiang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-06-01 |
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18 |
Chih-Ping Chen; Chyi-Chyang Lin; Yi-Ning Su; Fuu-Jen Tsai; Yu-Ting Chen; Schu-Rern Chern; Chen-Chi Lee; Dai-Dyi Town; Li-Feng Chen; Pei-Chen Wu; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-03-01 |
Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome |
Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Fuu-Jen Tsai; Shu-Chin Chien; Schu-Rern Chern; Meng-Shan Lee; Pei-Chen Wu; Hsiao-En Cindy Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-03-01 |
Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21→q11.23 by array comparative genomic hybridization |
Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Chin-Yuan Hsu; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-03-01 |
Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters |
Chih-Ping Chen; Yi-Ning Su; Fuu-Jen Tsai; Schu-Rern Chern; Chin-Yuan Hsu; Ming-Chao Huang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2010-03-01 |
Second-trimester maternal serum quadruple test for Down syndrome screening: a Taiwanese population-based study |
Sheng-Wen Steven Shaw; Shin-Yu Lin; Chia-Hui Lin; Yi-Ning Su; Po-Jen Cheng; Chien-Nan Lee; Chih-Ping Chen |
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| [生物醫學研究所] 期刊論文 |
2010-03-01 |
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18 |
Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Pei-Ying Ling; Fuu-Jen Tsai; Schu-Rern Chern; Pei-Chen Wu; Hsaio-En Cindy Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2009-12-01 |
22q 11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Fuu-Jen Tsai; Jonathan Kwei Hwang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2009-12-01 |
Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes |
Chih-Ping Chen; Yi-Ning Su; Fuu-Jen Tsai; Hung-Hung Lin; Schu-Rern Chern; Meng-Shan Lee; Jonathan Kwei Hwang; Teresa Hsiao-Tien Chen; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2009-11-01 |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome |
Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Hui-Yu Cheng; Shuan-Pei Lin; Ming-Ren Chen; Chih-Ping Chen; Chien-Hui Chang; Chiou-Ya Lin; Chih-Chieh Yu; Hsin-Hui Chiu,; Wen-Fang Cheng; Hong-Nerng Ho; Dau-Ming Niu; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2009-09-01 |
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR |
Chia-Cheng Hung; Shin-Yu Lin; Shuan-Pei Lin,; Dou-Ming Niu; Ni-Chung Lee; Wen-Fang Cheng; Chih-Ping Chen; Win-Li Lin; Chien-Nan Lee; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2009-09-01 |
Prenatal magnetic resonance imaging, ultrasound imaging findings and genetic analysis of concomitant rhabdomyomas and cerebral tuberous sclerosis |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Yu-Peng Liu; Fuu-Jen Tsai; Jonathan Kwei Hwang; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2008-09-01 |
Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system |
Sheng-Wen Shaw; Po-Jen Cheng; Shuenn-Dhy Chang; Yu-Ting Lin; Chia-Cheng Hung; Chih-Ping Chen; Yi-Ning Su |
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| [生物醫學研究所] 期刊論文 |
2008-06-01 |
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation |
Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Shu-Chin Chien; Fuu-Jen Tsai; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-12-01 |
Genetic counseling of prenatally detected unbalanced t(Y;15)(q12;p13) |
Chih-Ping Chen; Yi-Ning Su; Chyi-Chyang Lin; Yueh-Chun Li; Lie-Jiau Hsieh; Chen-Chi Lee; Wayseen Wang |
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| [生物醫學研究所] 期刊論文 |
2007-11-01 |
Molecular assay of -α3.7 and -α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography |
Chia-Cheng Hung; Chien-Nan Lee; Chih-Ping Chen; Yuh-Jyh Jong; Wu-Shiun Hsieh; Win-Li Lin; Yi-Ning Su; Su-Ming Hsu |
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| [生物醫學研究所] 期刊論文 |
2007-07-01 |
Rapid prenatal diagnosis of Duchenne muscular dystrophy with gene duplications by ion-pair reversed-phase high-performance liquid chromatography coupled with competitive multiplex polymerase chain reaction strategy |
Wan-Yi Huang; Chia-Cheng Hung; Chien-Nan Lee; Yi-Ning Su; Chih-Ping Chen |
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| [醫學系] 期刊論文 |
2013-12-01 |
Concordant myelomeningocele in dizygotic twins conceived by intracytoplasmic sperm injection, in vitro fertilization, and embryo transfer |
Chih-Ping Chen; Yuh-Ming Hwu; Chen-Yu Chen; Yi-Ning Su; Tzu-Hung Lin; Yu-Ling Kuo; Schu-Rern Chern; Wayseen Wang |
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| [醫學系] 期刊論文 |
2013-10-01 |
Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review |
Chih-Ping Chen; Yi-Ning Su; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Chen-Chi Lee; Li-Feng Chen; Wayseen Wang |
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| [醫學系] 期刊論文 |
2013-06-01 |
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome |
Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang |
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