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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 1-50 of 213  (5 Page(s) Totally)
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Institution Date Title Author
中國醫藥大學 2015-12 Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly 陳持平(Chih-Ping Chen)*;(Cheng-Ran Peng);(Tung-Yao Chang);(Wan-Yuo Guo);(Yen-Ni Chen);(Peih-Shan Wu);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2015-10 Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome and Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1 陳持平(Chih-Ping Chen)*;(Ming-Huei Lin);(Yi-Yung Chen);(Schu-Rern Chern);(Yen-Ni Chen);(Peih-Shan Wu);(Chen-Wen Pan);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2015-08 Mosaic trisomy 15 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Yen-Ni Chen);(Peih-Shan Wu);(Chien-Wen Yang);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2015-06 Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature 陳持平(Chih-Ping Chen)*;(Ming-Chao Huang);(Schu-Rern Chern);(Yu-Ling Kuo);(Yen-Ni Chen);(Peih-Shan Wu);(Li-Feng Chen);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2015-04 First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism 陳持平(Chih-Ping Chen)*;(Liang-Kai Wang);(Schu-Rern Chern);(Yu-Ling Kuo);(Yen-Ni Chen);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2015-02 Detection of no isochromosome 20q by interphase fluorescence in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis 陳持平(Chih-Ping Chen)*;蘇俊維(Jun-Wei Su);(Schu-Rern Chern);(Yu-Ling Kuo);(Peih-Shan Wu);(Meng-Shan Lee);(Chien-Wen Yang);(Wayseen Wang)
中國醫藥大學 2015-02 Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diap 陳持平(Chih-Ping Chen)*;(Yeou-Lih Wang);(Schu-Rern Chern);(Yu-Peng Liu);(Cheng-Ran Peng);(Yu-Ling Kuo);(Peih-Shan Wu);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2015-02 Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma 陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Ming-Chao Huang);(Schu-Rern Chern);(Tan-Wei Lin);(Tung-Yao Chang);(Yu-Ling Kuo);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2014-12 Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome 陳持平(Chih-Ping Chen)*;(Cheng-Ran Peng);(Schu-Rern Chern);(Yu-Ling Kuo);(Peih-Shan Wu);(Dai-Dyi Town);(Chen-Wen Pan);(Chien-Wen Yang);(Wayseen Wang)
中國醫藥大學 2014-12 Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome 陳持平(Chih-Ping Chen)*;(Chen-Ju Lin);(Schu-Rern Chern);(Yu-Peng Liu);(Yu-Ling Kuo);(Peih-Shan Wu);(Dai-Dyi Town);(Li-Feng Chen);(Chien-Wen Yang);(Wayseen Wang)
中國醫藥大學 2014-12 First-trimester molecular diagnosis of complete hydatidiform mole associated with dizygotic twin pregnancy conceived by intrauterine insemination 陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Chen-Yu Chen);(Tao-Yeuan Wang);(Schu-Rern Chern);(Yu-Ling Kuo);(Wayseen Wang)
亞洲大學 2014-03 A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation Chih-Ping Chen;Shuan-Pei Lin;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee; Wayseen Wang
亞洲大學 2014-03 Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization and literature review Chih-Ping Chen;Liang-Kai Wang;Schu-Rern Chern;Peih-Shan Wug, Yu-Ting Chen;Yu-Ling Kuo;Wen-Lin Chen;Meng-Shan Lee;Wayseen Wang
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 Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes Chih-Ping Chen;Pu-Tsui Wang;Shuan-Pei Lin;Schu-Rern Chern;Yu-Ting Chen;Peih-Shan Wu;Yu-Ling Kuo;Wen-Lin Chen;Wayseen Wang
亞洲大學 2014-03 Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p Chih-Ping Chen;Chen-Li Lin;Tsang-Ming Ko;Schu-Rern Chern;Yu-Ting Chen;Peih-Shan Wu;Yu-Ling Kuo;Meng-Shan Lee;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 A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);蘇俊維(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2014-03 Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization and literature review 陳持平(Chih-Ping Chen)*;(Liang-Kai Wang);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Yu-Ling Kuo);(Wen-Lin Chen);(Meng-Shan Lee);(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 Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes 陳持平(Chih-Ping Chen)*;(Pu-Tsui Wang);(Shuan-Pei Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Yu-Ling Kuo);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2014-03 Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p 陳持平(Chih-Ping Chen)*;(Chen-Ju Lin);(Tsang-Ming Ko);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Yu-Ling Kuo);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2014-03 Directly transmitted 4.5-Mb triplication of 4q12-q13.1: prenatal diagnosis and molecular cytogenetic characterization 陳持平(Chih-Ping Chen)*;(Ming-Huei Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Yu-Ling Kuo);(Meng-Shan Lee);(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)
亞洲大學 2014-02 Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry 陳持平;Chen, Chih-Ping;Ming Cheng;Chen-Yu Chen;Schu-Rern Chern;Peih-Shan Wu;Shun-Ping Chang;Yu-Ling Kuo;Wen-Lin Chen;Chen-Wen Pan;Wayseen Wang
亞洲大學 2014-02 Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry Chih-Ping Chen;Ming Chen;Chen-Yu Chen;Schu-Rern Chern;Peih-Shan Wu;Shun-Ping Chang;Yu-Ling Kuo;Wen-Lin Chen;Chen-Wen Pan;Wayseen Wang
中國醫藥大學 2013-12 Prenatal diagnosis of de novo cryptic microdeletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect 陳持平(Chih-Ping Chen)*;(Ming-Chao Huang);(Yi-Yung Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2013-12 Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review 陳持平(Chih-Ping Chen)*;(Tung-Yao Chang);(Wan-Yuo Guo);(Pei-Chen Wu);(Liang-Kai Wang);(Schu-Rern Chern);(Peih-Shan Wu);蘇俊維(Jun-Wei Su);(Yu-Ting Chen);(Li-Feng 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)
中國醫藥大學 2013-12 3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization 陳持平(Chih-Ping Chen)*;(Chen-Ju Lin);(Yi-Yung Chen);(Liang-Kai Wang);(Schu-Rern Chern);(Peih-Shan Wu);蘇俊維(Jun-Wei Su);(Li-Feng Chen);(Dai-Dyi Town);(Chen-Wen Pan);(Wayseen Wang)
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13 陳持平;Chen, Chih-Ping;Chin-Han Tsai;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee;Yu-Ting Chen;Wen-Lin Chen;Li-Feng Chen;Wayseen Wang
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2->p14) 陳持平;Chen, Chih-Ping;Meng-Ju Lee;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Meng-Shan Lee;Wayseen Wang
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2->p14) 陳持平;Chen, Chih-Ping;Meng-Ju Lee;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Meng-Shan Lee;Wayseen Wang
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13 陳持平;Chen, Chih-Ping;Chin-Han Tsai;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee;Yu-Ting Chen;Wen-Lin Chen;Li-Feng Chen;Wayseen Wang
中國醫藥大學 2013-07 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay and poor wound healing 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yu-Peng Liu);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2013-07 Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes 陳持平(Chih-Ping Chen)*;(Ming-Chao Huang);(Yi-Yung Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Wayseen Wang)
亞洲大學 2013-06 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1) 陳持平;Chen, Chih-Ping;Shing-Jyh Chang;Schu-Rern Chern;Peih-Shan Wu;Yu-Ting Chen;Jun-Wei Su;Wen-Lin Chen;Wayseen Wang
中國醫藥大學 2013-06 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1) 陳持平(Chih-Ping Chen)*;(Shing-Jyh Chang,);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2013-06 Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review 陳持平(Chih-Ping Chen)*;(Po-Jen Cheng);(Shuenn-Dyh Chang);(Yi-Xuan Lee);(Jin-Chung Shih);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Adam Hwa-Ming Hsieh);(Teresa Hsiao-Tien Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2013-06 A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2013-04 Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization 陳持平(Chih-Ping Chen)*;(Chen-Ju Lin);(Tung-Yao Chang);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Chi Lee);(Li-Feng Chen);(Wayseen Wang)
亞洲大學 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;Chen, Chih-Ping;Yi-Yung Chen;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;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 Prenatal diagnosis of partial trisomy 3q (3q27.3->qter) and partial monosomy 14q (14q31.3->qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints 陳持平(Chih-Ping Chen)*;(Yao-Lung Chang);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Wen-Lin Chen);(Li-Feng Chen);(Wayseen Wang)
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)

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