| 臺大學術典藏 |
2021-07-14T03:36:13Z |
The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling
|
DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu |
| 中國醫藥大學 |
2015-05-17 |
Molecular Aspects of Mucopolysaccharidosis IVA in Taiwan
|
林瑋德(Wei-De Lin);周宜卿(I-Ching Chou);(Shuan-Pei Lin);(Pao-Chin Chiu);(Wuh-Liang Hwu);王仲興(Chung-Hsing Wang);蔡輔仁(Fuu-Jen Tsai)* |
| 國立交通大學 |
2014-12-13T10:40:08Z |
唇顎製成因之探討---轉化性生長因子α(TGFA)之遺傳與唇顎裂發生之關聯性研究
|
林炫沛; Shuan-Pei Lin |
| 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 |
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 |
| 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 |
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 |
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 |
2013-06 |
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 |
2013-06 |
Effects of Enzyme Replacement Therapy for Cardiac type Fabry Patients with a Chinese Hotspot Late-onset Fabry Mutation (IVS4+919G>A)
|
(Hsiang-Yu Lin);(Hao-Chuan Liu);(Yu-Hsiu Huang);(Hsuan-Chieh Liao);(Ting-Rong Hsu);(Chia-I Shen);(Shao-Tzu Li);(Cheng-Fang Li);(Li-Hong Lee);(Pi-Chang Lee);(Chun-Kai Huang);(Chuan-Chi Chiang);林清淵(Ching-Yuang Lin);(Shuan-Pei Lin);(Dau-Ming Niu)* |
| 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 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 |
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 |
2012-09 |
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 |
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) |
| 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 |
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 |
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 |
2012-03 |
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 |
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 |
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 |
2011-09 |
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 |
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 |
2011-03 |
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 |
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 |
2010-09 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
|
陳持平(Chih-Ping Chen)*; (Yung-Ting Guo); (Shuan-Pei Lin); (Yi-Ning Su); (Yann-Jang Chen); (Rui-Yuan Hseuh); (Yi-Hui Lin); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-09 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
|
陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Schu-Rern Chern); (Yu-Ming Hwu); (Shuan-Pei Lin); (Chyong-Hsin Hsu); 蔡輔仁(Fuu-Jen Tsai); (Tao-Yeuan Wang); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Li-Feng Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-07 |
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2/q24.3 in a girl with autistic features and developmental delay
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); (Yann-Jang Chen); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Wayseen Wang) |
| 中國醫藥大學 |
2010-06 |
Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Chen-Chi Lee); (Li-Feng Chen); (Meng-Shan Lee); (Wayseen Wang) |
| 中國醫藥大學 |
2010-06 |
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux presenting polyhydramnios in the third trimester
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Yi-Ning Su); (Chen-Yu Chen); 蔡輔仁(Fuu-Jen Tsai); (Yu-Peng Liu); (Schu-Rern Chern); (Pei-Chen Wu); (Hsaio-En Cindy Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-03 |
Ventriculomegaly, intrauterine growth restriction and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2->pter) in a fetus
|
陳持平(Chih-Ping Chen)*; (Yu-Peng Liu); (Shuan-Pei Lin); (Ming Chen); 蔡輔仁(Fuu-Jen Tsai); (Yu-Ting Chen); (Li-Feng Chen); (Jonathan Kwei Hwang); (Wayseen Wang) |
| 中國醫藥大學 |
2010-02 |
Prenatal diagnosis of X-linked myotubular myopathy
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Tao-Yeuan Wang); (Hung-Hung Lin); (Wayseen Wang) |
| 中國醫藥大學 |
2008-10 |
Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review.
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Tzu-Hao Wang); (Schu-Rern Chern); (Wayseen Wang) |
| 中國醫藥大學 |
2008-07 |
A 5.6 Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.
|
陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Chen-Chi Lee); (Wayseen Wang) |
| 中國醫藥大學 |
2008-06 |
Kabuki syndrome in a female with mosaic 45,X/47,XXX and aortic coarctation.
|
陳持平(Chih-Ping Chen); (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Wayseen Wang) |
| 中國醫藥大學 |
2008-06 |
Transient abnormal myelopoiesis of mosaic trisomy 21 presenting fetoplacental cytogenetic discrepancy, hepatosplenomegaly, oligohydramnios and abnormal hematological findings.
|
陳持平(Chih-Ping Chen); (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Hung-Hung Lin); (Schu-Rern Chern); (Chih-Kuang Chuang); (Chen-Chi Lee); (Wayseen Wang) |
| 中國醫藥大學 |
2008-06 |
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
|
陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Yi-Ning Su); 簡淑錦(Shu-Chin Chien); 蔡輔仁(Fuu-Jen Tsai); (Wayseen Wang) |
