Published in J Formos Med Assoc on March 01, 2010
Incontinentia pigmenti in a newborn with NEMO mutation. J Korean Med Sci (2011) 0.91
Utility of molecular studies in incontinentia pigmenti patients. Indian J Med Res (2011) 0.78
Genetic mutation in male patients with incontinentia pigmenti. J Formos Med Assoc (2011) 0.75
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. J Clin Immunol (2017) 0.75
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
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
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
Detection of chromosome aberrations during prenatal genetic testing for single gene disorders. Prenat Diagn (2004) 1.39
Generalized Dowling-Degos disease. J Am Acad Dermatol (2007) 1.24
Polymerase chain reaction based detection of Mycobacterium tuberculosis in tissues showing granulomatous inflammation without demonstrable acid-fast bacilli. Int J Dermatol (2003) 1.23
Necrolytic acral erythema without hepatitis C infection. J Cutan Pathol (2009) 1.18
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int (2007) 1.15
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet (2010) 1.06
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol (2008) 1.02
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
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis (2013) 0.96
Effects of growth hormone treatment on height, weight, and obesity in Taiwanese patients with Prader-Willi syndrome. J Chin Med Assoc (2008) 0.95
Serum cytokines in differentiating between viral and bacterial enterocolitis. Ann Trop Paediatr (2004) 0.94
Nail changes and association of osteoarthritis in digital myxoid cyst. Dermatol Surg (2007) 0.94
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. Genet Mol Biol (2011) 0.93
Angioplasmocellular hyperplasia: a clinicopathologic study of 10 patients. J Am Acad Dermatol (2011) 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
Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A (2005) 0.91
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
Cytoid bodies in cutaneous direct immunofluorescence examination. J Cutan Pathol (2007) 0.90
Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol (2010) 0.90
Trichophyton erinacei infection from a hedgehog: a case report from Taiwan. Mycopathologia (2010) 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
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
Malignant giant cell tumor of the tendon sheath. Int J Dermatol (2004) 0.87
Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. Pediatr Radiol (2005) 0.87
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Ann Hum Genet (2009) 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
Hydroa vacciniforme-like Epstein-Barr virus-associated monoclonal T-lymphoproliferative disorder in a child. Int J Dermatol (2007) 0.87
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. Hum Mol Genet (2010) 0.86
Recurrent digital glomus tumor: analysis of 75 cases. Dermatol Surg (2010) 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
Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn (2002) 0.86
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
Interference and blood sample preparation for a pyruvate enzymatic assay. Clin Biochem (2005) 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
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Clin Chim Acta (2008) 0.84
Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent. Prostate (2012) 0.84
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene. BMC Med Genet (2011) 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
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
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
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy. Gene (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
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc (2002) 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
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
Subungual pleomorphic fibroma. J Cutan Pathol (2003) 0.82
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. Am J Med Genet A (2011) 0.82
Free amino acids in full-term and pre-term human milk and infant formula. J Pediatr Gastroenterol Nutr (2005) 0.82
Genetic polymorphisms in the CD40 ligand gene and Kawasaki disease. J Clin Immunol (2008) 0.82
Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res (2007) 0.81
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan. Acta Paediatr (2007) 0.81
Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy. Clin Chem (2006) 0.81
Polysomnographic characteristics in patients with Prader-Willi syndrome. Pediatr Pulmonol (2007) 0.81
Cardiovascular changes in mucopolysaccharidoses in Taiwan. Acta Cardiol (2005) 0.81
A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am J Med Genet A (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
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR. Electrophoresis (2009) 0.81
Tacrolimus ointment-induced relapse of schizophrenia: a case report. Int J Neuropsychopharmacol (2007) 0.80
Intravenous pamidronate therapy in Taiwanese patients with osteogenesis imperfecta. Pediatr Neonatol (2008) 0.80
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J Formos Med Assoc (2007) 0.80
Clinical features of osteogenesis imperfecta in Taiwan. J Formos Med Assoc (2009) 0.80
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. Taiwan J Obstet Gynecol (2011) 0.80
Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin. Prenat Diagn (2002) 0.80
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A). Orphanet J Rare Dis (2014) 0.80
Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenat Diagn (2005) 0.79
Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter). Prenat Diagn (2005) 0.79
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model. Mol Genet Metab (2011) 0.79
Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis. Taiwan J Obstet Gynecol (2009) 0.79
Histopathologic-molecular correlation in early mycosis fungoides using T-cell receptor gamma gene rearrangement by polymerase chain reaction with laser capture microdissection. J Formos Med Assoc (2007) 0.79
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry. Taiwan J Obstet Gynecol (2013) 0.79
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. JIMD Rep (2012) 0.78
Prenatal diagnosis of mosaic 22q11.2 microdeletion. Prenat Diagn (2004) 0.78
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. Taiwan J Obstet Gynecol (2013) 0.78
Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism. Taiwan J Obstet Gynecol (2013) 0.78
Lack of association of the vascular endothelial growth factor gene polymorphisms with Kawasaki disease in Taiwanese children. J Clin Immunol (2008) 0.78
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum Genet (2004) 0.78
Prenatal magnetic resonance imaging demonstration of the systemic feeding artery of a pulmonary sequestration associated with in utero regression. Prenat Diagn (2005) 0.78
Association of partial trisomy 9 (9pter-->q22.3) with corpus callosum dysgenesis, bilateral subependymal cysts, and ventriculomegaly. Prenat Diagn (2003) 0.78
Immunoelectron microscopic studies on protein gene product 9.5 and calcitonin gene-related peptide in vallate taste cells and related nerves in the guinea pig. Microsc Res Tech (2003) 0.77
Infantile chondrodermatitis nodularis. Pediatr Dermatol (2007) 0.77
Verruciform xanthoma-like phenomenon in seborrheic keratosis. J Cutan Pathol (2006) 0.77
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. Anal Biochem (2009) 0.77
Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease. J Chin Med Assoc (2006) 0.77
Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1. Hum Genet (2007) 0.77
The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese children. Hum Immunol (2007) 0.77