PubRank

Torayuki Okuyama

Author PubWeight™ 39.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Stat3 protects against Fas-induced liver injury by redox-dependent and -independent mechanisms. J Clin Invest 2003 3.02
2 Gene expression profile in the regenerating rat liver after partial hepatectomy. J Hepatol 2003 2.43
3 Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 2004 1.51
4 Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet 2010 1.49
5 Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab 2012 1.30
6 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009 1.28
7 Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab 2004 1.24
8 Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 2012 1.20
9 Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A 2005 1.10
10 Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci 2012 1.05
11 Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet 2002 1.02
12 The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet A 2008 1.01
13 Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab 2011 0.99
14 Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A 2005 0.95
15 High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol Genet Metab 2009 0.94
16 Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet 2013 0.90
17 Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res 2006 0.90
18 OEIS complex with del(3)(q12.2q13.2). Am J Med Genet A 2005 0.90
19 Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings. Mol Genet Metab 2013 0.88
20 Newborn screening for Pompe disease in Japan. Mol Genet Metab 2011 0.87
21 Inhibition of allogeneic T-cell responses by dendritic cells expressing transduced indoleamine 2,3-dioxygenase. J Gene Med 2005 0.87
22 DHPLC in clinical molecular diagnostic services. Mol Genet Metab 2005 0.86
23 Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. Mol Ther 2003 0.86
24 Prolonged survival of rat liver allograft with adenoviral gene transfection of human immunodeficiency virus type 1 nef. Liver Transpl 2003 0.84
25 Donepezil significantly improves abilities in daily lives of female Down syndrome patients with severe cognitive impairment: a 24-week randomized, double-blind, placebo-controlled trial. Int J Psychiatry Med 2011 0.82
26 Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation. BMC Med Genet 2011 0.81
27 EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol 2006 0.81
28 Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. Congenit Anom (Kyoto) 2006 0.81
29 Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. Acta Otolaryngol 2007 0.80
30 Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells. Mol Ther 2005 0.80
31 Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots. Mol Genet Metab 2011 0.79
32 Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis. J Hum Genet 2007 0.79
33 Bcl-2 prevents doxorubicin-induced apoptosis of human liver cancer cells. Hepatol Res 2003 0.79
34 Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet A 2007 0.78
35 Non-cleavable mutant Fas ligand transfection of donor cornea abrogates ocular immune privilege. Exp Eye Res 2002 0.78
36 Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 2004 0.78
37 Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene. J Neurol Sci 2010 0.77
38 Kinetics and effect of integrin expression on human CD34(+) cells during murine leukemia virus-derived retroviral transduction with recombinant fibronectin for stem cell gene therapy. Hum Gene Ther 2009 0.77
39 Encapsulation cell therapy for mucopolysaccharidosis type VII using genetically engineered immortalized human amniotic epithelial cells. Tohoku J Exp Med 2006 0.77
40 Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I. J Hum Genet 2008 0.76
41 Prolongation of transgene expression by coexpression of cytokine response modifier a in rodent liver after adenoviral gene transfer. Mol Ther 2002 0.75
42 Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab 2012 0.75
43 Case of insertion, inversion and deletion of chromosome 6. Pediatr Int 2002 0.75
44 A Senile Case of Late-onset Pompe's Disease. Intern Med 2016 0.75
45 Monozygotic twins of Smith-Magenis syndrome. Am J Med Genet A 2007 0.75