Lista de obras -

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

artículo científico publicado en 2016

6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay ⬇️

artículo científico publicado el 8 de abril de 2013

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

artículo científico publicado en 2014

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

artículo científico publicado en 2008

A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome ⬇️

artículo científico publicado el 25 de julio de 2012

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

artículo científico publicado en 2010

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

artículo científico publicado en 2005

An interstitial deletion of 8q23.3–q24.22 associated with Langer–Giedion syndrome, Cornelia de Lange syndrome and epilepsy ⬇️

artículo científico publicado el 7 de agosto de 2013

Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation

artículo científico publicado en 2013

Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and d

scientific article published on 01 October 2018

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

artículo científico publicado en 2010

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

artículo científico publicado en 2019

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

artículo científico publicado en 2016

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

artículo científico publicado en 2008

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

artículo científico publicado en 2005

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

scientific article published on 06 October 2010

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

artículo científico publicado en 2010

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay

artículo científico publicado en 2017

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes

artículo científico publicado en 2014

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

artículo científico publicado en 2007

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

artículo científico publicado en 2016

Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings

scientific article published on 01 February 2006

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

artículo científico publicado en 2006

Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome

artículo científico publicado en 2017

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

artículo científico publicado en 2016

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

artículo científico publicado en 2016

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses ⬇️

artículo científico publicado el 1 de septiembre de 2010

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

artículo científico publicado en 2010

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

artículo científico publicado el 1 de junio de 2012

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

artículo científico publicado en 2005

Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion

artículo científico publicado en 2003

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

artículo científico publicado en 2017

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry ⬇️

artículo científico publicado el 1 de marzo de 2013

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry ⬇️

artículo científico publicado el 1 de marzo de 2013

Prenatal diagnosis of X-linked myotubular myopathy

artículo científico publicado en 2010

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 ⬇️

artículo científico publicado el 1 de marzo de 2013

Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus

scientific article published on 01 April 2006

Prenatal diagnosis of mosaic 22q11.2 microdeletion

artículo científico publicado en 2004

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

artículo científico publicado el 1 de marzo de 2013

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

artículo científico publicado en 2005

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

artículo científico publicado en 2017

Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)

scientific article published on 01 December 2005

Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception ⬇️

artículo científico publicado el 1 de junio de 2012

Lista de obras de

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay ⬇️

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

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

A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome ⬇️

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

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

An interstitial deletion of 8q23.3–q24.22 associated with Langer–Giedion syndrome, Cornelia de Lange syndrome and epilepsy ⬇️

Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation

Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and d

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

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses ⬇️

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

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

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry ⬇️

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry ⬇️

Prenatal diagnosis of X-linked myotubular myopathy

Prenatal diagnosis of a missense mutation of c.2279G&gt;A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome ⬇️

Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus

Prenatal diagnosis of mosaic 22q11.2 microdeletion

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

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

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)

Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception ⬇️

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 ⬇️