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PubMed 16005363 Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mell 909 Bytes 2015-11-19 33 24 2021-12-05
PubMed 15649253 Primary malignant lymphoma of the brain: frequent abnormalities and inactivation of p14 tumor suppressor gene. Ten primary central nervous system lymphomas (PCNSL, brain lymphomas) were examined for p 1.39 KB 2015-11-18 25 17 2021-12-05
PubMed 15609295 Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. Bernard-Soulier syndrome (BSS) i 1.39 KB 2015-11-18 34 24 2021-12-05
PubMed 15599941 Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. BACKGROUND: Recent data has suggested that polymorphisms in the pr 1.75 KB 2015-11-18 26 37 2021-12-05
PubMed 15200408 Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. BACKGROUND: Primary vesicoureteral reflux (VUR) is a hereditary disorder characteri 2.45 KB 2015-11-19 27 45 2021-12-05
PubMed 15198485 Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. Endothelin-1 (ET-1) is a potent vasoconstrictor and shows various pharmacological responses. Two single nucleot 1.68 KB 2015-11-19 28 33 2021-12-05
PubMed 15177686 Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype includ 1.19 KB 2015-11-19 26 17 2021-12-05
PubMed 15111599 CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. PURPOSE: To identify the genetic defect leading to the congenital nuclear cata 1.57 KB 2015-11-22 24 15 2021-12-05
PubMed 15018851 Comparison of sequential cytomegalovirus isolates in a patient with lymphoma and failing antiviral therapy. BACKGROUND: Long-term anti-cytomegalovirus (CMV) treatments in immunocompromised patients ar 1.61 KB 2015-11-22 40 30 2021-12-05
PubMed 21750150 Homozygously deleted gene DACH1 regulates tumor-initiating activity of glioma cells. Loss or reduction in function of tumor suppressor genes contributes to tumorigenesis. Here, by allelic DNA copy num 1.73 KB 2015-11-26 27 51 2021-12-05