| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease
|
Yamazaki, K.
|
|
2002
|
|
9 |
p. 469-472
|
article
|
| 2 |
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
|
Watanabe, Y.
|
|
2002
|
|
9 |
p. 478-483
|
article
|
| 3 |
A comprehensive analysis of microsatellite diversity in Aboriginal Australians
|
Walsh, Simon J.
|
|
2007
|
|
9 |
p. 712-728
|
article
|
| 4 |
A model of prediction system for adverse cardiovascular reactions by calcineurin inhibitors among patients with renal transplants using gene-based single-nucleotide polymorphisms
|
Mushiroda, Taisei
|
|
2005
|
|
9 |
p. 442-447
|
article
|
| 5 |
An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis
|
Kawamoto, R.
|
|
2001
|
|
9 |
p. 506-510
|
article
|
| 6 |
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
|
Yenchitsomanus, Pa-thai
|
|
2003
|
|
9 |
p. 451-456
|
article
|
| 7 |
Ankylosing spondylitis susceptibility loci defined by genome-search meta-analysis
|
Lee, Young Ho
|
|
2005
|
|
9 |
p. 453-459
|
article
|
| 8 |
A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
|
Ki, C.-S.
|
|
2002
|
|
9 |
p. 473-477
|
article
|
| 9 |
A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain
|
Zeng, L.
|
|
2002
|
|
9 |
p. 497-499
|
article
|
| 10 |
A promoter SNP (–1323T<C) in G-substrate gene (GSBS) correlates with hypercholesterolemia
|
Ono, Shuji
|
|
2003
|
|
9 |
p. 447-450
|
article
|
| 11 |
Association between the PPARα-L162V polymorphism and components of the metabolic syndrome
|
Robitaille, Julie
|
|
2004
|
|
9 |
p. 482-489
|
article
|
| 12 |
Association of paraoxonase 1 gene polymorphisms with risk of Parkinson’s disease: a meta-analysis
|
Zintzaras, Elias
|
|
2004
|
|
9 |
p. 474-481
|
article
|
| 13 |
Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese
|
Yamada, Yoshiji
|
|
2003
|
|
9 |
p. 469-475
|
article
|
| 14 |
BglII gene polymorphism of the α2β1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes
|
Petrovič, Mojca Globočnik
|
|
2003
|
|
9 |
p. 457-460
|
article
|
| 15 |
Catalog of 178 variations in the Japanese population among eight human genes encoding G protein-coupled receptors (GPCRs)
|
Saito, Susumu
|
|
2003
|
|
9 |
p. 461-468
|
article
|
| 16 |
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure–function relationship
|
Lupi, Anna
|
|
2004
|
|
9 |
p. 500-506
|
article
|
| 17 |
Chromosomal FISH analysis of unfertilized human oocytes and polar bodies
|
Honda, N.
|
|
2002
|
|
9 |
p. 488-491
|
article
|
| 18 |
Chromosome 3p and breast cancer
|
Yang, Q.
|
|
2002
|
|
9 |
p. 453-459
|
article
|
| 19 |
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
|
Narumi, Yoko
|
|
2008
|
|
9 |
p. 834-841
|
article
|
| 20 |
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example
|
Kuno, Shin-ichi
|
|
2004
|
|
9 |
p. 463-473
|
article
|
| 21 |
Comparison of ENCODE region SNPs between Cebu Filipino and Asian HapMap samples
|
Marvelle, Amanda F.
|
|
2007
|
|
9 |
p. 729-737
|
article
|
| 22 |
Comparison of multivariate adaptive regression splines and logistic regression in detecting SNP–SNP interactions and their application in prostate cancer
|
Lin, Hui-Yi
|
|
2008
|
|
9 |
p. 802-811
|
article
|
| 23 |
Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms
|
Lai, Ling-Ping
|
|
2005
|
|
9 |
p. 490-496
|
article
|
| 24 |
Entropy-based joint analysis for two-stage genome-wide association studies
|
Kang, Guolian
|
|
2007
|
|
9 |
p. 747-756
|
article
|
| 25 |
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies
|
Nomura, Masayo
|
|
2005
|
|
9 |
p. 483-489
|
article
|
| 26 |
Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human β-hexosaminidase A on the accumulated GM2 ganglioside
|
Ohsawa, Mai
|
|
2005
|
|
9 |
p. 460-467
|
article
|
| 27 |
Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families
|
Jian, Wei-Xia
|
|
2005
|
|
9 |
p. 477-482
|
article
|
| 28 |
Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP)
|
Cao, H.
|
|
2002
|
|
9 |
p. 492-496
|
article
|
| 29 |
Genetic background of people in the Dominican Republic with or without obese type 2 diabetes revealed by mitochondrial DNA polymorphism
|
Tajima, Atsushi
|
|
2004
|
|
9 |
p. 495-499
|
article
|
| 30 |
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis
|
Namba, A.
|
|
2001
|
|
9 |
p. 518-521
|
article
|
| 31 |
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
|
Sawamura, Daisuke
|
|
2006
|
|
9 |
p. 839
|
article
|
| 32 |
Genetic variations in five genes involved in the excitement of cardiomyocytes
|
Iwasa, H.
|
|
2001
|
|
9 |
p. 549-552
|
article
|
| 33 |
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G<A) is the most common variant in the Cambodian population
|
Matsuoka, Hiroyuki
|
|
2005
|
|
9 |
p. 468-472
|
article
|
| 34 |
G6PD Viangchan (871G<A) is the most common G6PD-deficient variant in the Cambodian population
|
Louicharoen, Chalisa
|
|
2005
|
|
9 |
p. 448-452
|
article
|
| 35 |
High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene
|
Iida, A.
|
|
2001
|
|
9 |
p. 522-528
|
article
|
| 36 |
High throughput multiple combination extraction from large scale polymorphism data by exact tree method
|
Miyaki, Koichi
|
|
2004
|
|
9 |
p. 455-462
|
article
|
| 37 |
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient
|
Materna, Verena
|
|
2003
|
|
9 |
p. 484-486
|
article
|
| 38 |
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
|
Tomatsu, Shunji
|
|
2004
|
|
9 |
p. 490-494
|
article
|
| 39 |
Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population
|
Saito, S.
|
|
2001
|
|
9 |
p. 529-537
|
article
|
| 40 |
Identification of 46 novel SNPs in the 130-kb region containing a myocardial infarction susceptibility gene on chromosomal band 6p21
|
Iida, Aritoshi
|
|
2003
|
|
9 |
p. 476-479
|
article
|
| 41 |
Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis
|
Ikeda, T.
|
|
2001
|
|
9 |
p. 538-543
|
article
|
| 42 |
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population
|
Kokubo, Yoshihiro
|
|
2004
|
|
9 |
p. 507-515
|
article
|
| 43 |
Identifying haplotype block structure using an ancestor-derived model
|
Fujisawa, Hironori
|
|
2007
|
|
9 |
p. 738-746
|
article
|
| 44 |
INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese
|
Hotta, Kikuko
|
|
2008
|
|
9 |
p. 857-862
|
article
|
| 45 |
Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan
|
Flores, Carlos
|
|
2005
|
|
9 |
p. 435-441
|
article
|
| 46 |
Linkage disequilibrium structure of the 5q31-33 region in a Thai population
|
Nuchnoi, Pornlada
|
|
2008
|
|
9 |
p. 850-856
|
article
|
| 47 |
Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations
|
Tanaka, A.
|
|
2002
|
|
9 |
p. 484-487
|
article
|
| 48 |
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
|
Kim, Byoung Joon
|
|
2006
|
|
9 |
p. 840
|
article
|
| 49 |
Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family
|
Mizoguchi, M.
|
|
2001
|
|
9 |
p. 511-517
|
article
|
| 50 |
MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas
|
Janssen, J. W. G.
|
|
2002
|
|
9 |
p. 460-464
|
article
|
| 51 |
New correction algorithms for multiple comparisons in case–control multilocus association studies based on haplotypes and diplotype configurations
|
Misawa, Kazuharu
|
|
2008
|
|
9 |
p. 789-801
|
article
|
| 52 |
No association between the oligodendrocyte-related gene PLP1 and schizophrenia in the Japanese population
|
Aleksic, Branko
|
|
2008
|
|
9 |
p. 863-866
|
article
|
| 53 |
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene
|
Aquaron, Robert
|
|
2007
|
|
9 |
p. 771-780
|
article
|
| 54 |
On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting?
|
Kayashima, Tomohiko
|
|
2003
|
|
9 |
p. 492-493
|
article
|
| 55 |
Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis
|
Hur, Sung Eun
|
|
2007
|
|
9 |
p. 703-711
|
article
|
| 56 |
Power of genome-wide linkage disequilibrium testing by using microsatellite markers
|
Ohashi, Jun
|
|
2003
|
|
9 |
p. 487-491
|
article
|
| 57 |
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia
|
Malik, Safarina G.
|
|
2003
|
|
9 |
p. 480-483
|
article
|
| 58 |
Reply to the letter of Kayashima et al.
|
Oshimura, Mitsuo
|
|
2003
|
|
9 |
p. 494
|
article
|
| 59 |
Response to genetic manipulations of liver angiotensinogen in the physiological range
|
Gociman, Barbu
|
|
2008
|
|
9 |
p. 775-788
|
article
|
| 60 |
RET polymorphisms and the risk of Hirschsprung’s disease in a Chinese population
|
Liu, Cuiping
|
|
2008
|
|
9 |
p. 825-833
|
article
|
| 61 |
Single nucleotide polymorphisms of the resistin (RSTN) gene
|
Cao, Henian
|
|
2001
|
|
9 |
p. 553-555
|
article
|
| 62 |
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
|
Kijima, Kazuki
|
|
2005
|
|
9 |
p. 473-476
|
article
|
| 63 |
SNP genotyping in the β2-adrenergic receptor by electronic microchip assay, DHPLC, and direct sequencing
|
Yoshida, N.
|
|
2002
|
|
9 |
p. 500-503
|
article
|
| 64 |
Structural characterization of mutant α-galactosidases causing Fabry disease
|
Sugawara, Kanako
|
|
2008
|
|
9 |
p. 812-824
|
article
|
| 65 |
The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population
|
Huang, Qing-Yang
|
|
2007
|
|
9 |
p. 757-762
|
article
|
| 66 |
The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression
|
Daud, D.
|
|
2001
|
|
9 |
p. 499-505
|
article
|
| 67 |
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
|
Vuillaumier-Barrot, Sandrine
|
|
2001
|
|
9 |
p. 547-548
|
article
|
| 68 |
Thirteen single-nucleotide polymorphisms in the human osteopontin gene identified by sequencing of the entire gene in Japanese individuals
|
Iwasaki, H.
|
|
2001
|
|
9 |
p. 544-546
|
article
|
| 69 |
Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection
|
Komori, S.
|
|
2002
|
|
9 |
p. 465-468
|
article
|
| 70 |
VSX1 gene variants are associated with keratoconus in unrelated Korean patients
|
Mok, Jee-Won
|
|
2008
|
|
9 |
p. 842-849
|
article
|
| 71 |
Y-chromosome haplogroup N dispersals from south Siberia to Europe
|
Derenko, Miroslava
|
|
2007
|
|
9 |
p. 763-770
|
article
|
Journal description