Detection of chromosome aberrations during prenatal genetic testing for single gene disorders.

Detection of chromosome aberrations during prenatal genetic testing for single gene disorders. Prenat Diagn (2005) 0.75

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A (2009) 2.15

Prognostic significance of vascular endothelial growth factor, basic fibroblast growth factor, and angiogenin in patients with resectable hepatocellular carcinoma after surgery. Ann Surg Oncol (2003) 2.08

Targeting histone deacetylase in cancer therapy. Med Res Rev (2006) 1.69

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A (2009) 1.67

First- and second-trimester Down syndrome screening: current strategies and clinical guidelines. Taiwan J Obstet Gynecol (2008) 1.65

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis (2014) 1.60

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57

NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formos Med Assoc (2010) 1.51

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation. Fertil Steril (2007) 1.42

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A (2006) 1.41

Hybrid solar cells with prescribed nanoscale morphologies based on hyperbranched semiconductor nanocrystals. Nano Lett (2007) 1.29

Inhibition of iNOS gene expression by quercetin is mediated by the inhibition of IkappaB kinase, nuclear factor-kappa B and STAT1, and depends on heme oxygenase-1 induction in mouse BV-2 microglia. Eur J Pharmacol (2005) 1.20

The roles of serum leptin concentration and polymorphism in leptin receptor gene at codon 109 in breast cancer. Oncology (2007) 1.15

Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas. Prenat Diagn (2005) 1.15

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int (2007) 1.15

Cyr61 induces gastric cancer cell motility/invasion via activation of the integrin/nuclear factor-kappaB/cyclooxygenase-2 signaling pathway. Clin Cancer Res (2005) 1.13

Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly. Prenat Diagn (2007) 1.12

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet (2010) 1.06

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet (2006) 1.05

OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet (2012) 1.02

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol (2008) 1.02

Associations of the pre-pregnancy body mass index and gestational weight gain with pregnancy outcomes in Taiwanese women. Asia Pac J Clin Nutr (2012) 0.98

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A). J Inherit Metab Dis (2010) 0.98

Hematemesis as the initial complication of pancreatic adenocarcinoma directly invading the duodenum: a case report. World J Gastroenterol (2005) 0.96

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2013) 0.96

Outcome of pregnancy in patients with systemic lupus erythematosus. Taiwan J Obstet Gynecol (2006) 0.95

Effects of growth hormone treatment on height, weight, and obesity in Taiwanese patients with Prader-Willi syndrome. J Chin Med Assoc (2008) 0.95

Uterine rupture due to traumatic assisted fundal pressure. Taiwan J Obstet Gynecol (2006) 0.94

Serum cytokines in differentiating between viral and bacterial enterocolitis. Ann Trop Paediatr (2004) 0.94

Biosafety assessment of human mesenchymal stem cells engineered by hybrid baculovirus vectors. Mol Pharm (2011) 0.93

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. Genet Mol Biol (2011) 0.93

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics (2005) 0.93

Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat Diagn (2002) 0.93

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A). Clin Chim Acta (2013) 0.92

Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc (2006) 0.91

Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome. J Clin Ultrasound (2007) 0.91

Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A (2005) 0.91

Typical body wall defect associated with craniofacial anomalies and amniotic bands diagnosed in early pregnancy. Taiwan J Obstet Gynecol (2007) 0.90

Fetal cystic lung lesions: evaluation with magnetic resonance imaging. Pediatr Pulmonol (2010) 0.90

Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol (2010) 0.90

Traditional Chinese medicines and Alzheimer's disease. Taiwan J Obstet Gynecol (2011) 0.89

Concomitant exencephaly and limb defects associated with pentalogy of Cantrell. Taiwan J Obstet Gynecol (2008) 0.89

Contribution of ultrafast magnetic resonance imaging in prenatal diagnosis of sonographically undetected cerebral tuberous sclerosis associated with cardiac rhabdomyomas. Prenat Diagn (2005) 0.89

Rapid progressive course of later-onset Pompe disease in Chinese patients. Mol Genet Metab (2011) 0.89

Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. J Inherit Metab Dis (2010) 0.88

Isolated torsion of the fallopian tube in a 14-year-old adolescent. Taiwan J Obstet Gynecol (2006) 0.88

Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. Taiwan J Obstet Gynecol (2012) 0.88

Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. Pediatr Radiol (2005) 0.87

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril (2008) 0.87

Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes. Prenat Diagn (2005) 0.87

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Ann Hum Genet (2009) 0.87

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. Gene (2013) 0.86

ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. Hum Mol Genet (2010) 0.86

Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn (2002) 0.86

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele. Prenat Diagn (2008) 0.86

Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. Taiwan J Obstet Gynecol (2012) 0.85

Interference and blood sample preparation for a pyruvate enzymatic assay. Clin Biochem (2005) 0.85

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. Eur J Med Genet (2010) 0.85

Angiomyxoma of the umbilical cord. Taiwan J Obstet Gynecol (2006) 0.85

Prenatal diagnosis of microvillus inclusion disease. Taiwan J Obstet Gynecol (2011) 0.85

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. Am J Med Genet A (2006) 0.85

A seroepidemiologic study of Helicobacter pylori and hepatitis A virus infection in primary school students in Taipei. J Microbiol Immunol Infect (2005) 0.84

Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent. Prostate (2012) 0.84

MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility. BMC Med (2011) 0.84

Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. Clin Biochem (2007) 0.84

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. Eur J Med Genet (2008) 0.84

Safety and efficacy of unidirectional barbed suture in mini-laparotomy myomectomy. Taiwan J Obstet Gynecol (2013) 0.84

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta (2008) 0.84

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene. BMC Med Genet (2011) 0.84

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. Gene (2013) 0.83

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). BMJ Open (2013) 0.83

Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome. Prenat Diagn (2006) 0.83

Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver. Prenat Diagn (2003) 0.83

The use of misoprostol in termination of second-trimester pregnancy. Taiwan J Obstet Gynecol (2011) 0.83

Term pregnancy with umbilical cord prolapse. Taiwan J Obstet Gynecol (2012) 0.83

Two-step thermal annealing improves the morphology of spin-coated films for highly efficient perovskite hybrid photovoltaics. Nanoscale (2014) 0.83

Thoraco-omphalopagus conjoined twins associated with omphalocele and an umbilical cord cyst. Taiwan J Obstet Gynecol (2007) 0.83

Perioperative vasovagal syncope with focus on obstetric anesthesia. Taiwan J Obstet Gynecol (2006) 0.83

Genetic variations of HLA-DRB1 and susceptibility to Kawasaki disease in Taiwanese children. Hum Immunol (2006) 0.83

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. Eur J Med Genet (2010) 0.83

Spatiotemporal expression of SERPINE2 in the human placenta and its role in extravillous trophoblast migration and invasion. Reprod Biol Endocrinol (2011) 0.82

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. Am J Med Genet A (2011) 0.82

Genetic polymorphisms in the CD40 ligand gene and Kawasaki disease. J Clin Immunol (2008) 0.82

Free amino acids in full-term and pre-term human milk and infant formula. J Pediatr Gastroenterol Nutr (2005) 0.82

Curcuminoids and resveratrol as anti-Alzheimer agents. Taiwan J Obstet Gynecol (2012) 0.82

Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract. Mol Vis (2010) 0.82

Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol (2010) 0.82

Epicatechin gallate decreases the viability and subsequent embryonic development of mouse blastocysts. Taiwan J Obstet Gynecol (2010) 0.82

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. Eur J Pediatr (2008) 0.82

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc (2002) 0.82

Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene. Anal Chem (2005) 0.81

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. Am J Med Genet A (2011) 0.81