Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Published 2013-03-01

Prenatal diagnosis of proximal femoral focal deficiency: A case report and literature review

by Tzu-Hung Lin, Chi-Hsien Chung, Jin-Chung Shih, Chia-Hui Lin, Chien-Nan Lee, Yi-Ning Su
Published 2013-06-01

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

by Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su
Published 2008-12-01

Manifesting Pediatric Carrier of Isolated Dystrophinopathy with Initial Presentation of Myalgia and Persistent HyperCKemia

by Chien-Hua Wang, Wen-Chen Liang, Yi-Ning Su, Wen-Chieh Lee, Ching-Chyuan Su, Yuh-Jyh Jong
Published 2012-12-01

Intraperitoneal and intracardiac transfusion of recurrent fetal erythroblastosis due to anti-M alloimmunization with unfavorable outcome

by Tzu-Hung Lin, Jin-Chung Shih, Chia-Hui Lin, Shin-Yu Lin, Yi-Ning Su, Chien-Nan Lee
Published 2012-06-01

Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma, and intrauterine growth restriction

by Chih-Ping Chen, Chin-Yuan Hsu, Yi-Ning Su, Tao-Yeuan Wang, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Published 2013-03-01

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