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Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
- Published in:
- Human Genetics, 2008, v. 122, n. 6, p. 615, doi. 10.1007/s00439-007-0438-8
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- Publication type:
- Article
Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis.
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- Human Genetics, 2001, v. 108, n. 5, p. 368, doi. 10.1007/s004390100503
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- Publication type:
- Article
Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections.
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- Rheumatology, 2010, v. 49, n. 7, p. 1346, doi. 10.1093/rheumatology/keq050
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- Publication type:
- Article
Docosahexaenoic acid contributes to increased CaMKII protein expression and a tendency to increase nNOS protein expression in differentiated NG108-15 cells.
- Published in:
- Drug Discoveries & Therapeutics, 2023, v. 17, n. 3, p. 209, doi. 10.5582/ddt.2023.01003
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- Publication type:
- Article
Clinical and genetic features of hereditary angioedema with and without C1‐inhibitor (C1‐INH) deficiency in Japan.
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- Allergy, 2021, v. 76, n. 11, p. 3529, doi. 10.1111/all.15034
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- Publication type:
- Article
Expression of ret Proto-oncogene in Human Neuroblastomas.
- Published in:
- Cancer Science, 1990, v. 81, n. 4, p. 309, doi. 10.1111/j.1349-7006.1990.tb02566.x
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- Publication type:
- Article
Presence of Aberrant Transcripts of ret Proto-oncogene in a Human Papillary Thyroid Carcinoma Cell Line.
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- Cancer Science, 1989, v. 80, n. 12, p. 1149, doi. 10.1111/j.1349-7006.1989.tb01645.x
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- Publication type:
- Article
Impact of group IVA cytosolic phospholipase A<sub> 2</sub> gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.
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- International Journal of Colorectal Disease, 2010, v. 25, n. 3, p. 293, doi. 10.1007/s00384-009-0808-x
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- Publication type:
- Article
A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese.
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- PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002455
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- Publication type:
- Article
Evaluation of Haplotype Inference Using Definitive Haplotype Data Obtained from Complete Hydatidiform Moles, and Its Significance for the Analyses of Positively Selected Regions.
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- PLoS Genetics, 2009, v. 5, n. 5, p. 1, doi. 10.1371/journal.pgen.1000468
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- Publication type:
- Article
Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.
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- Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2760, doi. 10.1002/art.39793
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- Publication type:
- Article
Characterization of the Biological Functions of a Transcription Factor, c-mycIntron Binding Protein 1 (MIBP1)1.
- Published in:
- Journal of Biochemistry, 2002, v. 131, n. 3, p. 349, doi. 10.1093/oxfordjournals.jbchem.a003109
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- Publication type:
- Article
QSNPlite, a software system for quantitative analysis of SNPs based on capillary array SSCP analysis.
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- Electrophoresis, 2006, v. 27, n. 19, p. 3869, doi. 10.1002/elps.200600098
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- Publication type:
- Article
Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics.
- Published in:
- Electrophoresis, 2006, v. 27, n. 19, p. 3816
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- Publication type:
- Article
A single-strand conformation polymorphism method for the large-scale analysis of mutations/polymorphisms using capillary array electrophoresis.
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- Electrophoresis, 2002, v. 23, n. 14, p. 2259, doi. 10.1002/1522-2683(200207)23:14<2259::AID-ELPS2259>3.0.CO;2-8
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- Publication type:
- Article
Loss of Activating EGFR Mutant Gene Contributes to Acquired Resistance to EGFR Tyrosine Kinase Inhibitors in Lung Cancer Cells.
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- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041017
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- Publication type:
- Article
Tight Linkage of the ret Proto-oncogene with the Multiple Endocrine Neoplasia Type 2A Locus.
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- Japanese Journal of Clinical Oncology, 1991, v. 21, n. 3, p. 149
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- Publication type:
- Article
SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0216-8
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- Publication type:
- Article
SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 67, doi. 10.1186/s12881-015-0216-8
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- Publication type:
- Article
Possible involvement of c- myc but not ras genes in hepatocellular carcinomas developing after spontaneous hepatitis in LEC rats.
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- Molecular Carcinogenesis, 1991, v. 4, n. 4, p. 269, doi. 10.1002/mc.2940040405
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- Publication type:
- Article
dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods.
- Published in:
- 2005
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- Publication type:
- Other
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 104, doi. 10.1002/humu.20191
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- Publication type:
- Article
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
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- Human Mutation, 1998, v. 12, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1998)12:3<186::AID-HUMU6>3.0.CO;2-F
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- Publication type:
- Article
SSCP analysis of long DNA fragments in low pH gel.
- Published in:
- Human Mutation, 1997, v. 10, n. 5, p. 400, doi. 10.1002/(SICI)1098-1004(1997)10:5<400::AID-HUMU11>3.0.CO;2-3
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- Publication type:
- Article
D-HaploDB: a database of definitive haplotypes determined by genotyping complete hydatidiform mole samples.
- Published in:
- Nucleic Acids Research, 2007, v. 35, p. d685, doi. 10.1093/nar/gkl848
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- Publication type:
- Article
Genetic Analysis of a Case of Glioblastoma with Oligodendroglial Component Arising During the Progression of Diffuse Astrocytoma.
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- Pathology & Oncology Research, 2015, v. 21, n. 3, p. 839, doi. 10.1007/s12253-014-9850-2
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- Publication type:
- Article
Narrowing of the regions of allelic losses of chromosome 1p36 in meningioma tissues by an improved SSCP analysis.
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- International Journal of Cancer, 2008, v. 122, n. 8, p. 1820, doi. 10.1002/ijc.23297
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- Publication type:
- Article
Multiplexed Analysis of Post-PCR Fluorescence-labeled Microsatellite Alleles and Statistical Evaluation of Their Imbalance in Brain Tumors.
- Published in:
- Cancer Science, 2002, v. 93, n. 3, p. 284, doi. 10.1111/j.1349-7006.2002.tb02170.x
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- Publication type:
- Article