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Showing items 56-105 of 213  (5 Page(s) Totally)
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Institution Date Title Author
中國醫藥大學 2013-01 Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosome 陳持平(Chih-Ping Chen)*;(Ming Chen);(Gwo-Chin Ma);(Yi-Ning Su);(Tsang-Ming Ko);(Yi-Hui Lin);(Wayseen Wang)
亞洲大學 2013 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3->q32.12) associated with abnormal maternal serum biochemistry 陳持平;Chen, Chih-Ping;Kwui-Shuai Hwang;Her-Young Su;Shuan-Pei Lin;Yi-Ning Suk, Schu-Rern Chern;Jun-Wei Su;Yu-Ting Chen;Wen-Lin Chen;Wayseen Wang
中國醫藥大學 2012-12 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 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2012-12 Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Jun-Wei Su);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of trisomy 8 mosaicism 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2012-12 Mosaic isochromosome 20q detected at amniocentesis may be a cell culture artifact 陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Yu-Ting Chen);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-12 Rapid diagnosis of trisomy 21 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with isolated ventriculomegaly in the fetus 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2012-12 Detection of mosaic balanced homologous acrocentric rearrangement rea(21q21q) in a woman with repeated pregnancy losses 陳持平(Chih-Ping Chen)*;(Pei-Chen Wu);蔡輔仁(Fuu-Jen Tsai);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2012-12 De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yuan-Ling Huang);(Schu-Rern Chern);(Yu-Peng Liu);(Jun-Wei Su);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of mosaic tetrasomy 18p 陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-12 First-trimester prenatal diagnosis of Ellis-van Creveld syndrome 陳持平(Chih-Ping Chen)*;(Chen-Yu Chen);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-12 Alobar holoprosencephaly, cebocephaly and micropenis in a Klinefelter fetus of a diabetic mother 陳持平(Chih-Ping Chen)*;(Tsung-Hsien Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
亞洲大學 2012-09 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation 陳持平;Chen, Chih-Ping;Yi-Ning Su;Schu-Rern Chern;Jun-Wei Su;Yu-Ting Chen;Chen-Chi Lee;Wayseen Wang
亞洲大學 2012-09 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 陳持平;Chen, Chih-Ping;Wayseen Wang,
中國醫藥大學 2012-09 Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-09 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 陳持平(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)
中國醫藥大學 2012-09 Rapid diagnosis of trisomy 18 using uncultured amniocytes in late second trimester in a pregnancy with fetal congenital heart defects, arthrogryposis, omphalocele and mega cisterna magna 陳持平(Chih-Ping Chen)*;Yi-Yung Chen;(Jui-Der Liou);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-09 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 陳持平(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)
中國醫藥大學 2012-09 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 陳持平(Chih-Ping Chen)*;(Ming Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Shun-Ping Chang);(Dong-Jay Lee);(Yu-Ting Chen);(Li-Feng Chen);(Jun-Wei Su,);(Alan Hwa-Ruey Hsieh);(Alex Hwa-Jiun Hsieh);(Wayseen Wang)
中國醫藥大學 2012-09 Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Yi-Yung Chen);(Pei-Chen Wu);(Dai-Dyi Town);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2012-09 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 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yi-Yung Chen);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-09 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 陳持平(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)
中國醫藥大學 2012-09 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2012-09 A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);(Shuenn-Dyh Chang);(Shu-Hang Ng);(Yu-Peng Liu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-09 Pure partial monosomy 3p (3p25.3->pter): prenatal diagnosis and array comparative genomic hybridization characterization 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chen-Yu Chen);(Jun-Wei Su);(Schu-Rern Chern);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-09 Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes 陳持平(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)
亞洲大學 2012-06 Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception 陳持平;Chen,Chih-Ping;Shuan-Pei Lin;Yi-Ning Su;Jian-Pei Huang;Schu-Rern Chern;Jun-Wei Su;Wayseen Wang
中國醫藥大學 2012-06 Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming-Ren Chen);(Jun-Wei Su);(Schu-Rern Chern);(Yen-Jiun Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-06 Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Chyong-Hsin Hsu);(Schu-Rern Chern);(Jun-Wei Su);(Yen-Jiun Chen);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2012-06 A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-06 Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-06 Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements 陳持平(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)
中國醫藥大學 2012-06 Rapid diagnosis of monosomy X using uncultured amniocytes in amniotic fluid and cultured lymphocytes in cystic fluid in a pregnancy with fetal cystic hygroma and hydrops 陳持平(Chih-Ping Chen)*;(Chin-Yuan Hsu);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2012-06 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 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Tung-Yao Chang);(Yi-Ning Su);(Yi-Yung Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Schu-Rern Chern);(Chen-Yu Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 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 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 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 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Fang-Yu Hung);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations 陳持平(Chih-Ping Chen)*;(Hsien-Ming Lin);(Cheung Leung);(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2012-06 Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Ming-Huei Lin);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jian-Pei Huang);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Ming-Chao Huang);(Chun-Heng Pan);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-06 Pure distal 9p deletion in a female infant with cerebral palsy 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-04 Persistent cloaca presenting with a perineal cyst: prenatal ultrasound and magnetic resonance imaging findings 陳持平(Chih-Ping Chen)*;(Tung-Yao Chang);(Chin-Yuan Hsu);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Wayseen Wang)
亞洲大學 2012-03 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
中國醫藥大學 2012-03 Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Dar-Shong Lin);(Yu-Peng Liu);(Lee James Hsu);(Wayseen Wang)
中國醫藥大學 2012-03 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 陳持平(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)
中國醫藥大學 2012-03 Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism 陳持平(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)
中國醫藥大學 2012-03 Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis 陳持平(Chih-Ping Chen)*;(Tung-Yao Chang);(Tao-Yeuan Wang);(Chen-Yu Chen);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Schu-Rern Chern);(Wayseen Wang)
中國醫藥大學 2012-03 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 陳持平(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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