Items for Author "Jun-Wei Su" 

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Showing 46 items.

Collection	Date	Title	Authors	Bitstream
[生物醫學研究所] 期刊論文	2012-12-01	Alobar holoprosencephaly, cebocephaly, and micropenis in a Klinefelter fetus of a diabetic mother	Chih-Ping Chen; Tsung-Hsien Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay	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
[生物醫學研究所] 期刊論文	2012-12-01	First-trimester prenatal diagnosis of Ellis-van Creveld syndrome	Chih-Ping Chen; Chen-Yu Chen; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	Mosaic isochromosome 20q detected at amniocentesis may be a cell culture artifact	Chih-Ping Chen; Shuenn-Dyh Chang; Yu-Ting Chen; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis	Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ting Chen; Peih-Shan Wu; Jun-Wei Su; Chen-Wen Pan; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	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	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review	Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	Prenatal diagnosis of mosaic tetrasomy 18p	Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-12-01	Prenatal diagnosis of trisomy 8 mosaicism	Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ting Chen; Jun-Wei Su; Chen-Wen Pan; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-11-01	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	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
[生物醫學研究所] 期刊論文	2012-09-01	Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-09-01	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	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
[生物醫學研究所] 期刊論文	2012-09-01	Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation	Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-09-01	Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2	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
[生物醫學研究所] 期刊論文	2012-09-01	Pure partial monosomy 3p (3p25.3->pter): prenatal diagnosis and array comparative genomic hybridization characterization	Chih-Ping Chen; Yi-Ning Su; Chen-Yu Chen; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-09-01	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	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
[生物醫學研究所] 期刊論文	2012-09-01	Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes	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
[生物醫學研究所] 期刊論文	2012-09-01	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	Chih-Ping Chen; Yi-Ning Su; Yi-Yung Chen; Schu-Rern Chern; Jun-Wei Su; Yu-Ting Chen; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder	Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	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	Chih-Ping Chen; Yi-Ning Su; Fang-Yu Hung; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	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	Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements	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
[生物醫學研究所] 期刊論文	2012-06-01	Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father	Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium	Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Ming-Chao Huang; Chun-Heng Pan; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations	Chih-Ping Chen; Hsien-Ming Lin; Cheung Leung; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder	Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Meng-Shan Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly	Chih-Ping Chen; Shuan-Pei Lin; Ming-Ren Chen; Jun-Wei Su; Schu-Rern Chern; Yen-Jiun Chen; Meng-Shan Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	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	Chih-Ping Chen; Schu-Rern Chern; Tung-Yao Chang; Yi-Ning Su; Yi-Yung Chen; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation	Chih-Ping Chen; Shuan-Pei Lin; Chyong-Hsin Hsu; Schu-Rern Chern; Jun-Wei Su; Yen-Jiun Chen; Chen-Wen Pan; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Pure distal 9p deletion in a female infant with cerebral palsy	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jian-Pei Huang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	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	Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Chin-Yuan Hsu; Yi-Yung Chen; Jun-Wei Su; Wen-Lin Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	Prenatal ultraousnd and magnetic resonance imaging findings of fetal akinesia deformation sequence with multiple pterygium syndrome	Chih-Ping Chen; Jin-Chung Shih; Chen-Yu Chen; Yu-Peng Liu; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	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	Chih-Ping Chen; Jin-Chung Shih; Ming-Chao Huang; Yu-Peng Liu; Jun-Wei Su; Schu-Rern Chern; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	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
[生物醫學研究所] 期刊論文	2012-03-01	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	Chih-Ping Chen; Yi-Ning Su; Ming Chen; 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
[生物醫學研究所] 期刊論文	2012-03-01	Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities	Chih-Ping Chen; Yi-Ning Su; Chih-Long Chang; Yi-Yung Chen; Jun-Wei Su; Schu-Rern Chern; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-12-01	Conjoined twins detected in the first trimester: a review	Chih-Ping Chen; Chin-Yuan Hsu; Jun-Wei Su; Hsiao-En Cindy Chen; Alan Hwa-Ruey Hsieh; Alex Hwa-Jiun Hsieh; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-12-01	First trimester two-dimensional and three-dimensional ultrasound demonstration of craniofacial defects, abdominal wall defects and upper limb deficiency associated with limb-body wall complex	Chih-Ping Chen; Yi-Yung Chen; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-12-01	Prenatal diagnosis of mosaic trisomy 9	Chih-Ping Chen; Fang-Yu Hung; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Yu-Ting Chen; Wen-Lin Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-12-01	Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion	Chih-Ping Chen; Yi-Ning Su; Yi-Yung Chen; Jun-Wei Su; Schu-Rern Chern; Yu-Ting Chen; Wen-Lin Chen; Li-Feng Chen; Wayseen Wang.
[醫學系] 期刊論文	2013-12-01	Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios	Chih-Ping Chen; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang
[醫學系] 期刊論文	2013-10-01	Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review	Chih-Ping Chen; Yi-Ning Su; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Chen-Chi Lee; Li-Feng Chen; Wayseen Wang
[醫學系] 期刊論文	2013-06-01	Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome	Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang
[醫學系] 期刊論文	2013-06-01	Maternal transmission of interstitial microdeletion in 5q13.2 detected during prenatal diagnosis of coarctation of the aorta	Chih-Ping Chen; Chen-Ju Lin; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Wayseen Wang