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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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) |