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List of works by Fuu-Jen Tsai

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Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2→q24.3 in a girl with autistic features and developmental delay

scientific article published on March 24, 2010
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

scientific article published on 9 June 2010
Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes

scientific article published on 01 December 2009
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

scientific article published on 29 March 2008
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly

scientific article published on September 2010
Microvillus Inclusion Disease: Prenatal Ultrasound Findings, Molecular Diagnosis and Genetic Counseling of Congenital Diarrhea

scientific article published on December 1, 2010
Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

scientific article (publication date: September 2011)
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
Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

scientific article published on 04 March 2008
De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure

scientific article published on September 1, 2011
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
Prenatal diagnosis and molecular analysis of trisomy 13 mosaicism

scientific article published on 01 September 2009
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18

scientific article published on 01 June 2010
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.

scientific article published in March 2010
Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis

scientific article published on 01 December 2009
Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling

scientific article published on December 1, 2010
Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses

scientific article published on September 2010
Unbalanced reciprocal translocations at amniocentesis

scientific article published on 01 March 2011
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

scientific article published on 22 October 2007
Trisomy 13 mosaicism associated with cyclopia and cystic hygroma

scientific article published on 01 December 2009
Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review

scientific article published on December 2009
Balanced Reciprocal Translocations Detected at Amniocentesis

scientific article published on 01 December 2010
Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis

scientific article published on 01 December 2009
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

scientific article published on 01 December 2011
A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

scientific article published on December 1, 2011
A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

scientific article published on 19 November 2008
Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

scientific article
NFkappaB2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 --> qter)

scientific article published on 01 April 2008
Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

scientific article published on September 1, 2010
Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p

scientific article published on 01 December 2007
Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization

scientific article published on 01 March 2011
Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction

scientific article published in June 2010
Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome

scientific article published on 01 March 2010
Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21

scientific article published on 01 September 2010
Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization

scientific article published on 01 June 2011
Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 22

scientific article published on 01 September 2010
A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error

scientific article published on 01 April 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 mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

scientific article published on 01 September 2008
Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

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
Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester

scientific article published on 01 September 2012
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4

scientific article published on 01 June 2011
Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis

scientific article published on 01 March 2010
Prenatal diagnosis of X-linked myotubular myopathy

scientific article published on 01 February 2010
Partial Trisomy 10q (10q25.1 →qter) and Partial Monosomy 13q (13q34→qter) Presenting With Fetal Pyelectasis: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization

scientific article published on 01 December 2010
Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21 --> q11.23 by array comparative genomic hybridization

scientific article published on 01 March 2010
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

scientific article published in December 2010
Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters

scientific article published on 01 March 2010

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