| 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) |
| 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 |
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association
|
陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Ming-Chao Huang);(Yu-Peng Liu);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang) |
| 中國醫藥大學 |
2012-03 |
Prenatal ultraousnd and magnetic resonance imaging findings of fetal akinesia deformation sequence with multiple pterygium syndrome
|
陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Chen-Yu Chen);(Yu-Peng Liu);(Schu-Rern Chern);(Jun-Wei Su);(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 |
Pure interstitial duplication of chromosome 7q (7q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Meng-Shan Lee);(Yen-Jiun Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-12 |
Perinatal magnetic resonance imaging demonstration of duplication of the right renal collecting system with ipsilateral hydronephrosis and hydroureter, and contralateral renal hypoplasia
|
陳持平(Chih-Ping Chen)*;(Jeng-Daw Tsai);(Chin-Yuan Hsu);(Tung-Yao Chang);(Yu-Peng Liu);(Jun-Wei Su);(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) |
| 中國醫藥大學 |
2011-12 |
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
|
陳持平(Chih-Ping Chen)*;(Ling-Yuh Kao);(Yi-Ning Su);(Ming Chen);(Shueen-Dyh Chang);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3)
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming Chen);(Yi-Ning Su);(Schu-Rern Chern);(Tao-Yeuan Wang);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Chen-Chi Lee);(Yen-Jiun Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
A 24.2-Mb deletion of 4q12->q21.21 characterized by array CGH in a 13?-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Li-Feng Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review
|
陳持平(Chih-Ping Chen)*;(Ming Chen);(Yi-Ju Pan);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Yu-Ting Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
De novo duplication Xq22.1->q24 with a disruption of the NXF geen cluster in a mentally retarded woman with short stature and premature ovarian failure
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Hung-Hung Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Yu-Ting Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
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
|
陳持平(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) |
