| 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) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);(Jain-Pei Huang);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yu-Ting Chen);(Wen-Lin Chen);(Lee James Hsu);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shin-Yu Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Meng-Shan Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay
|
陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis of limb-body wall complex with craniofacial defects
|
陳持平(Chih-Ping Chen)*;(Yi-Yung Chen);(Jun-Wei Su);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization and perinatal findings in a fetus with dup(15)(q26.2q26.3)
|
陳持平(Chih-Ping Chen)*;(Yi-Hui Lin);(Heng-Kien Au);(Chin-Yuan Hsu);(Yu-Peng Liu);(Pei-Chen Wu);(Schu-Rern Chern);(Yu-Ting Chen);(Li-Feng Chen);(Adam Hwa-Ming Hsieh);(Wayseen Wang) |
| 中國醫藥大學 |
2011-09 |
Prenatal diagnosis of microvillus inclusion disease
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Pei-Chen Wu);(Wayseen Wang) |
| 亞洲大學 |
2011-06 |
Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p
|
陳持平;Chen, Chih-Ping;Yi-Ning Su;Schu-Rern Chern;Fuu-Jen Tsai;Pei-Chen Wu;Chen-Chi Lee;Wayseen Wang |
| 中國醫藥大學 |
2011-06 |
Rapid aneuploidy diagnosis by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal nuchal edema and mild ascites
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Pei-Chen Wu);(Chen-Chi Lee);(Chen-Wen Pan);(Wayseen Wang) |
| 中國醫藥大學 |
2011-06 |
Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis
|
陳持平(Chih-Ping Chen)*;(Jui-Der Liou);(Chi-Hsin Chiang);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Yu-Ting Chen);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang) |
| 中國醫藥大學 |
2011-06 |
Prenatal diagnosis of cerebral tubers by magnetic resonance imaging following detection of cardiac rhabdomyomas by prenatal ultrasound in a fetus with a nonsense mutation in the TSC2 gene
|
陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chin-Yuan Hsu);(Ming-Ren Chen);(Yu-Peng Liu);(Pei-Chen Wu);(Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Unbalanced reciprocal translocations at amniocentesis
|
陳持平(Chih-Ping Chen)*; (Pei-Chen Wu); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Dai-Dyi Town); (Wen-Lin Chen); (Li-Feng Chen); (Meng-Shan Lee); (Chen-Wen Pan); (Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
|
陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Schu-Rern Chern); (Chin-Yuan Hsu); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Meng-Shan Lee); (Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Pathological characterization of a malformed umbilical cord associated with body stalk anomaly
|
陳持平(Chih-Ping Chen)*; (Tao-Yeuan Wang); (Pei-Chen Wu); 蔡輔仁(Fuu-Jen Tsai); (Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Meng-Shan Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2011-03 |
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations
|
陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Shin-Yu Lin); (Chih-Long Chang); (Yeou-Lih Wang); (Jiau-Pei Huang); (Chen-Yu Chen); (Fang-Yu Hung); (Yi-Yung Chen); (Pei-Chen Wu); (Wayseen Wang) |
| 亞洲大學 |
2010-12 |
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling
|
Chih-Ping Chen; Yi-Ning Su;Chin-Yuan Hsu;Schu-Rern Chern;Fuu-Jen Tsai;Pei-Chen Wu;Po-Tsang Chen;Wayseen Wang |
| 中國醫藥大學 |
2010-12 |
Prenatal diagnosis of partial monosomy 1q (1q42.3->qter) associated with hydrocephalus and corpus callosum agenesis
|
陳持平(Chih-Ping Chen)*; (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Hung-Hung Lin); (Pei-Chen Wu); (Chen-Chi Lee); (Chen-Wen Pan); (Wayseen Wang) |
| 中國醫藥大學 |
2010-12 |
A 5.3-Mb duplication of 9p12->p13.1 characterized by array CGH in a female infant with developmental delay
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Chen-Chi Lee); (Chen-Wen Pan); (Pei-Chen Wu); (Wayseen Wang) |
| 中國醫藥大學 |
2010-12 |
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
|
陳持平(Chih-Ping Chen)*; (Ming Chen); (Yi-Ning Su); (Chin-Yuan Hsu); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Wayseen Wang) |
