| 亞洲大學 |
2012-09 |
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
|
陳持平;Chen, Chih-Ping;Chen-Wen Pan, ;Wang, Wayseen |
| 亞洲大學 |
2012-09 |
Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes
|
陳持平;Chen, Chih-Ping;Dai-Dyi Town, ;Wen-Lin Chen, ;Chen, Li-Feng;Meng-Shan Lee, ;Pan, Chen-Wen;Wang, Wayseen |
| 亞洲大學 |
2012-09 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements
|
陳持平;Chen, Chih-Ping;Jun-Wei Su, ;Chen-Chi Lee, ;Town, Dai-Dyi;Wang, Wayseen |
| 亞洲大學 |
2012-06 |
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders:Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2012-06 |
Pure distal 9p deletion in a female infant with cerebral palsy
|
陳持平;Chen, Chih-Ping |
| 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 |
| 亞洲大學 |
2012-04 |
Persistent cloaca presenting with a perineal cyst: prenatal ultrasound and magnetic resonance imaging findings
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy- Walker malformation
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2012-03 |
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
|
陳持平;Chen, Chih-Ping;Yu-Ting Chen, ;Chen, Li-Feng;Wang, Wayseen |
| 亞洲大學 |
2011-12 |
A 20.5-Mb germline deletion of 13q13.1->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
A de novo duplication of chromosome 21q22.11->qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
|
陳持平;Chen, Chih-Ping;Wang, Wayseen |
| 亞洲大學 |
2011-12 |
Conjoined twins detected in the first trimester: a review
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of left wrist and aplasia of left thumb
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Management of moderate to severe Alzheimer's disease: Focus on memantine
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Perinatal magnetic resonance imaging demonstration of duplication of the right renal collecting system with ipsilateral hydronephrosis and hydroureter, and contralateral renal hypoplasia
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
Prenatal diagnosis of mosaic trisomy 9
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2011-12 |
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
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping |
| 亞洲大學 |
2011-09 |
Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization and perinatal findings in a fetus with dup(15)(q26.2q26.3)
|
陳持平;Chen, Chih-Ping;Li-Feng Chen, ;Adam Hwa-Ming Hsieh, ;Wang, Wayseen |
| 亞洲大學 |
2011-09 |
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-09 |
De novo duplication Xq22.1->q24 with a disruption of the NXF geen cluster in a mentally retarded woman with short stature and premature ovarian failure
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
2011-09 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay
|
陳持平;Chen, Chih-Ping |
| 亞洲大學 |
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;Chen, Chih-Ping;Chen-Chi Lee, ;Wang, Wayseen |
| 亞洲大學 |
2011-09 |
Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation
|
陳持平;Chen, Chih-Ping |
