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Showing items 1-50 of 75  (2 Page(s) Totally)
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Institution Date Title Author
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
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)
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)
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)
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 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 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 陳持平;Chen, Chih-Ping;Jun-Wei Su, ;Alan Hwa-Ruey Hsieh, ;Hsieh, Alex Hwa-Jiun;Wang, Wayseen
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 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 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 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;Chen, Chih-Ping;Jun-Wei Su, ;Chen-Chi Lee, ;Town, Dai-Dyi;Wang, Wayseen

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