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

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

Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II

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

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straigh...

nork Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Argitaratua 2013-09-01

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis

nork Chih-Ping Chen, Hsu-Kuang Huang, Yu-Peng Liu, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Argitaratua 2013-12-01

Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridizatio...

nork Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Wen-Lin Chen, Wayseen Wang
Argitaratua 2013-06-01

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

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

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

nork Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Ming-Huei Lin, Jun-Wei Su, Wayseen Wang
Argitaratua 2012-06-01

De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth...

nork Chih-Ping Chen, Chung-Hu Fu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Meng-Shan Lee, Wayseen Wang
Argitaratua 2013-09-01

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicys...

nork Chih-Ping Chen, Shuenn-Dyh Chang, Tzu-Hao Wang, Liang-Kai Wang, Jeng-Daw Tsai, Yu-Peng Liu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Wayseen Wang
Argitaratua 2013-12-01

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

nork 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
Argitaratua 2012-03-01