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PubMed 16849419 Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. CONTEXT: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disord 1.68 KB 2015-11-19 26 25 2021-12-05
PubMed 16843501 DNA damage and repair in gastric cancer--a correlation with the hOGG1 and RAD51 genes polymorphisms. The cell's susceptibility to mutagens and its ability to repair DNA lesions are important for cance 2.37 KB 2015-11-19 28 35 2021-12-05
PubMed 16418600 Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Ge 1.48 KB 2015-11-20 27 24 2021-12-05
PubMed 16200390 A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. Migraine is a common debilitating primary headache disorder with significant mental, phy 1.39 KB 2015-11-19 26 22 2021-12-05
PubMed 16157158 A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in females with seasonal affective disorder: an Austrian-Canadian collaborative study. Most females with se 1.54 KB 2015-11-19 30 26 2021-12-05
PubMed 16018252 Two novel mutations in SRY gene form Chinese sex reversal XY females. The SRY gene (sex determining region on Y chromosome) acts as TDF and is required for regulating male sex determination. SRY repre 2.02 KB 2015-11-19 42 22 2021-12-05
PubMed 16000134 Successful therapy with argatroban for superior mesenteric vein thrombosis in a patient with congenital antithrombin deficiency. A 38-year-old woman was admitted with superior mesenteric vein (SMV) th 885 Bytes 2015-11-22 42 18 2021-12-05
PubMed 15814629 The number of lymph node metastases in gastric cancer correlates with the angiotensin I-converting enzyme gene insertion/deletion polymorphism. PURPOSE: In the present study, we aimed to substantiate 1.72 KB 2015-11-19 26 34 2021-12-05
PubMed 15807692 Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. In this work, we studied the proband in a small nuclear family of Chinese and D 1.17 KB 2015-11-22 27 11 2021-12-05
PubMed 15459183 CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. We previously reported association of FCG 2 KB 2015-11-19 28 38 2021-12-05