Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome

by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Ming-Huei Lin, Jun-Wei Su, Wayseen Wang
Published 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 i...

by Chih-Ping Chen, Schu-Rern Chern, Tung-Yao Chang, Yi-Ning Su, Yi-Yung Chen, Jun-Wei Su, Wayseen Wang
Published 2012-06-01

Prenatal Magnetic Resonance Imaging, Ultrasound Imaging Findings and Genetic Analysis of Concomitant Rhabdomyomas and Cerebral Tuberous Sclerosis

by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Yu-Peng Liu, Fuu-Jen Tsai, Jonathan Kwei Hwang, Wayseen Wang
Published 2009-09-01

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

by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang
Published 2013-06-01

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation

by Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Wayseen Wang
Published 2012-09-01

Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception

by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Jian-Pei Huang, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Published 2012-06-01

22q 11.2 Microdeletion in a Fetus With Double-outlet Right Ventricle, Pulmonary Stenosis and a Ventricular Septal Defect: Prenatal Diagnosis by Array Comparative Genomic Hybridizat...

by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Fuu-Jen Tsai, Jonathan Kwei Hwang, Wayseen Wang
Published 2009-12-01

Pure partial monosomy 3p (3p25.3 → pter): Prenatal diagnosis and array comparative genomic hybridization characterization

by Chih-Ping Chen, Yi-Ning Su, Chen-Yu Chen, Jun-Wei Su, Schu-Rern Chern, Dai-Dyi Town, Wayseen Wang
Published 2012-09-01

Rapid Genome-wide Aneuploidy Diagnosis Using Uncultured Amniocytes and Array Comparative Genomic Hybridization in Pregnancy With Abnormal Ultrasound Findings Detected in Late Secon...

by Chih-Ping Chen, Yi-Ning Su, Fuu-Jen Tsai, Schu-Rern Chern, Chin-Yuan Hsu, Ming-Chao Huang, Wayseen Wang
Published 2010-03-01

Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

by Chih-Ping Chen, Yi-Ning Su, Jun-Wei Su, Schu-Rern Chern, Yu-Ting Chen, Li-Feng Chen, Wayseen Wang
Published 2013-03-01

Prenatal diagnosis of trisomy 8 mosaicism

by Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Yu-Ting Chen, Jun-Wei Su, Chen-Wen Pan, Wayseen Wang
Published 2012-12-01

Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father

by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang
Published 2012-06-01

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p

by Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Chen-Chi Lee, Wayseen Wang
Published 2011-06-01

Prenatal diagnosis of an interstitial deletion of 10q (10q11.21 → q21.1): Array comparative genomic hybridization characterization and literature review

by Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Dai-Dyi Town, Wayseen Wang
Published 2012-12-01

Prenatal Diagnosis of a 4.9-Mb Deletion of 10q11.21 → q11.23 by Array Comparative Genomic Hybridization

by Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Chin-Yuan Hsu, Chen-Chi Lee, Wayseen Wang
Published 2010-03-01

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities

by Chih-Ping Chen, Yi-Ning Su, Chih-Long Chang, Yi-Yung Chen, Jun-Wei Su, Schu-Rern Chern, Wayseen Wang
Published 2012-03-01

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly

by Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Yu-Peng Liu, Schu-Rern Chern, Li-Feng Chen, Wayseen Wang
Published 2011-12-01

Prenatal diagnosis of mosaic trisomy 2: Discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with sever...

by Chih-Ping Chen, Yi-Ning Su, Shin-Yu Lin, Schu-Rern Chern, Yu-Ting Chen, Meng-Shan Lee, Wayseen Wang
Published 2011-09-01

Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations

by Pei-Chin Lin, Yi-Ning Su, Yu-Mei Liao, Tai-Tsung Chang, Shih-Pien Tsai, Hsiu-Lan Shu, Shyh-Shin Chiou
Published 2014-04-01

miRBaseConverter: an R/Bioconductor package for converting and retrieving miRNA name, accession, sequence and family information in different versions of miRBase

by Taosheng Xu, Ning Su, Lin Liu, Junpeng Zhang, Hongqiang Wang, Weijia Zhang, Jie Gui, Kui Yu, Jiuyong Li, Thuc Duy Le
Published 2018-12-01