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PubMed 15824163 No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identifi 1.75 KB 2025-10-02 14 0 2021-12-23
PubMed 16330669 Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. PURPOSE: To evaluate the clinical 2 KB 2015-11-19 11 0 2021-12-23
PubMed 17000021 No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. INTRODUCTION: The PTPN22 is 2.11 KB 2025-10-02 15 0 2021-12-23
PubMed 17273972 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated 1.11 KB 2015-11-23 18 0 2021-12-23
PubMed 17286451 Retinoblastoma in India : microsatellite analysis and its application in genetic counseling. OBJECTIVES: This study was conducted with two objectives. The first was to estimate the frequency of loss o 1.73 KB 2015-12-24 9 0 2021-12-23
PubMed 17318851 Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Phenotypic characteristics expressed in syndromes give clues to the factors in 1.5 KB 2015-12-26 10 0 2021-12-23
PubMed 17935240 Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. The g.ORF15 + 652-653delAG mutation in the RPGR gene is the most frequent mutation in X-linked retinitis pigmentosa (XLRP). The objectiv 1.55 KB 2015-11-23 10 0 2021-12-23
PubMed 19353688 Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Insert 1.81 KB 2015-11-25 12 0 2021-12-23
PubMed 21699520 PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas. BACKGROUND: Basal cell carcinomas (BCCs) are the most frequen 1.54 KB 2016-01-03 12 0 2021-12-23
PubMed 22729903 Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population. The STAT4 has been found to be a susceptible gene in the development of systemic lup 1.54 KB 2015-11-26 13 0 2021-12-23