| 中國醫藥大學 |
2013-03 |
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
|
陳持平(Chih-Ping Chen)*;(Yi-Yung Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Yu-Ting Chen);(Li-Feng Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2013-03 |
Incidental detection of thoracoomphalopagus at amniocentesis in a twin pregnancy
|
陳持平(Chih-Ping Chen)*;(Jun-Wei Su);(Chia-Heng Lee);(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) |
| 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) |
