| 臺大學術典藏 |
2021-01-21T02:25:59Z |
UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene Polymorphism in Neonatal Hyperbilirubinemia-a Preliminary Report
|
Mei-Huei Chen;Yi-Ning Su;Wu-Shiun Hsieh;Hung-Chieh Chou;Chien-Yi Chen;Po-Nien Tsao; Mei-Huei Chen; Yi-Ning Su; Wu-Shiun Hsieh; Hung-Chieh Chou; CHIEN-YI CHEN; Po-Nien Tsao |
| 亞洲大學 |
2014-03 |
Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by ICSI and IVF-ET
|
Chih-Ping Chen;Yi-Ning Su;Shee-Uan Chen;Tung-Yao Chang;Pei-Chen Wu;Schu-Rern Chern;Peih-Shan Wu;Yu-Ling Kuo;Wayseen Wang |
| 亞洲大學 |
2014-03 |
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15
|
Chih-Ping Chen;Ming Chen;Yi-Ning Su;Schu-Rern Chern; Peih-Shan Wu;Shun-Ping Chang;Yu-Ling Kuo;Wen-Lin Chen;Wayseen Wang |
| 中國醫藥大學 |
2014-03 |
Detection of altered methylation status at 11p15 and 7q32 in placental mesenchymal dysplasia
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming-Huei Lin);(Tao-Yeuan Wang);(Schu-Rern Chern);(Yu-Ling Kuo);(Yu-Ting Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2014-03 |
Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by ICSI and IVF-ET
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shee-Uan Chen);(Tung-Yao Chang);(Pei-Chen Wu);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ling Kuo);(Wayseen Wang) |
| 中國醫藥大學 |
2014-03 |
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15
|
陳持平(Chih-Ping Chen)*;(Ming Chen);(Yi-Ning Su);(Schu-Rern Chern);(Peih-Shan Wu);(Shun-Ping Chang);(Yu-Ling Kuo);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2013-12 |
Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chen-Yu Chen);(Schu-Rern Chern);(Peih-Shan Wu);蘇俊維(Jun-Wei Su);(Chen-Chi Lee);(Li-Feng Chen);(Wayseen Wang) |
| 亞洲大學 |
2013-03 |
Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21)
|
陳持平;Chen, Chih-Ping;Tsang-Ming Ko;Yi-Ning Su;Jun-Wei Su;Yu-Ting Chen;Chen-Chi Lee;Li-Feng Chen;Wayseen Wang |
| 中國醫藥大學 |
2013-03 |
Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Yu-Ting Chen);(Li-Feng Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma and intrauterine growth restriction
|
陳持平(Chih-Ping Chen)*;(Chin-Yuan Hsu);(Yi-Ning Su);(Tao-Yeuan Wang);(Yi-Yung Chen);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
|
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 |
2013-03 |
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(Chih-Ping Chen)*;(Kwui-Shuai Hwang);(Her-Young Su);(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Jun-Wei Su);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Prenatal diagnosis of and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3->q23.3) associated with abnormal maternal serum biochemistry
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shuan-Pei Lin);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21)
|
陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Yi-Ning Su);(Jun-Wei Su);(Yu-Ting Chen);(Chen-Chi Lee);(Li-Feng Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20
|
陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Ho-Yen Chueh);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism
|
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 |
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) |
| 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 |
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 |
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) |
| 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 |
| 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 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 |
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 |
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 |
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 |
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) |
| 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 |
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 |
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) |
| 中國醫藥大學 |
2012-03 |
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
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);蔡輔仁(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) |
| 中國醫藥大學 |
2012-03 |
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Dai-Dyi Town);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2012-03 |
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chih-Long Chang);(Yi-Yung Chen);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang) |
| 中國醫藥大學 |
2011-12 |
A de novo duplication of chromosome 21q22.11->qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
|
陳持平(Chih-Ping Chen)*;(Hsu-Kuaing Huang);(Pei-Ying Lin);(Yi-Ning Su);(Ming Chen);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Schu-Rern Chern);(Yu-Ting Chen);(Chen-Chi Lee);(Wayseen Wang) |
