List of works - Tung-Yao Chang

22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

scientific article published on 01 December 2009

22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound

scientific article published on 01 June 2016

Antiepileptic drug use among women from the Taiwanese Registry of Epilepsy and Pregnancy: Obstetric complications and fetal malformation outcomes

scientific article published on 18 December 2017

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

scientific article

Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.

scientific article published on January 2004

Concomitant omphalocele and anencephaly associated with trisomy 18 and arthrogryposis diagnosed in early pregnancy

scientific article published on 01 March 2008

Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma

scientific article published on 01 February 2015

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family hist

scientific article published in September 2013

Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome

scientific article published on 01 April 2003

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

scientific article published on 01 June 2012

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound

scientific article

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

scientific article published on June 1, 2012

Osteogenesis imperfecta type II: Prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium ⬇️

scientific article published on 01 June 2012

Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.

scientific article

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 ⬇️

scientific article published on June 1, 2012

Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites

scientific article published on 01 March 2009

Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1.

scientific article published on 01 October 2007

Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

scientific article published on 01 October 2018

Prenatal diagnosis of an acardiac amorphous twin and the anomalous co-twin in a monoamniotic twin pregnancy

scientific article published on 01 July 2005

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)

scientific article published on 01 May 2008

Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency

scientific article

Prenatal diagnosis of de novo terminal deletion of chromosome 7q ⬇️

scientific article published on May 1, 2003

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

scientific article published in February 2018

Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

scientific article published on 01 March 2014

Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis

scientific article published on 01 April 2007

Prenatal diagnosis of mosaic 22q11.2 microdeletion

scientific article published on 01 August 2004

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

scientific article published on 01 January 2003

Prenatal diagnosis of partial trisomy 10q (10q25.3-->qter) and partial monosomy 18q (18q23-->qter)

scientific article published on 01 November 2005

Prenatal diagnosis of pure distal 18q deletion

scientific article published on 01 February 2006

Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

scientific article published on 9 February 2013

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

scientific article published in February 2018

Prenatal diagnosis of the distal 11q deletion and review of the literature

scientific article published on February 2004

Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY)

scientific article published on 01 March 2007

Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

scientific article

Prenatal magnetic resonance imaging evaluation of a digynic triploid fetus

scientific article published on 01 September 2007

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

scientific article published on 01 September 2013

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 ⬇️

scientific article published on June 1, 2013

Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings

scientific article published on 01 August 2002

Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

scientific article published in June 2004

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

scientific article published in March 2012

Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I

scientific article published on 01 September 2007

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

scientific article published on December 2013

List of works by Tung-Yao Chang

22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound

Antiepileptic drug use among women from the Taiwanese Registry of Epilepsy and Pregnancy: Obstetric complications and fetal malformation outcomes

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review

Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.

Concomitant omphalocele and anencephaly associated with trisomy 18 and arthrogryposis diagnosed in early pregnancy

Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family hist

Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome

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

Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound

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

Osteogenesis imperfecta type II: Prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium ⬇️

Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.

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 ⬇️

Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites

Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1.

Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

Prenatal diagnosis of an acardiac amorphous twin and the anomalous co-twin in a monoamniotic twin pregnancy

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)

Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency

Prenatal diagnosis of de novo terminal deletion of chromosome 7q ⬇️

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis

Prenatal diagnosis of mosaic 22q11.2 microdeletion

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

Prenatal diagnosis of partial trisomy 10q (10q25.3-->qter) and partial monosomy 18q (18q23-->qter)

Prenatal diagnosis of pure distal 18q deletion

Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Prenatal diagnosis of the distal 11q deletion and review of the literature

Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY)

Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

Prenatal magnetic resonance imaging evaluation of a digynic triploid fetus

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

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 ⬇️

Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings

Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer