Results 31 to 40 of about 945,528 (300)
Current concept on the pathogenesis of inflammatory bowel disease-crosstalk between genetic and microbial factors: Pathogenic bacteria and altered bacterial sensing or changes in mucosal integrity take "toll"? [PDF]
, 2006 The pathogenesis of inflammatory bowel disease (IBD) is only partially understood. Various environmental and host (e.g. genetic-, epithelial-, immune and non-immune) factors are involved.
Fischer, Simon +4 more
core +1 more source
A Bayesian spatial random effects model characterisation of tumour heterogeneity implemented using Markov chain Monte Carlo (MCMC) simulation [PDF]
, 2016 The focus of this study is the development of a statistical modelling procedure for characterising intra-tumour heterogeneity, motivated by recent clinical literature indicating that a variety of tumours exhibit a considerable degree of genetic spatial ...
Grech-Sollars, M, King, MD
core +1 more source
Genetic Heterogeneity in Familial Hyperinsulinism [PDF]
Human Molecular Genetics, 1998 Familial hyperinsulinism (HI) is a disorder characterized by dysregulation of insulin secretion and profound hypoglycemia. Mutations in both the Kir6.2 and sulfonylurea receptor (SUR1) genes have been associated with the autosomal recessive form of this disorder.
A, Nestorowicz +7 more
openaire +2 more sources
Annals of Indian Academy of NeurologyBackground and Objectives: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by genetic and clinical diversity.
Taha Reşid Özdemir +7 more
doaj +1 more source
Scheimpflug imaging for keratoconus and ectatic disease
Indian Journal of Ophthalmology, 2013 Scheimpflug cross-sectioning anterior segment imaging offers significant advantages over traditional placido based curvature analysis and ultrasound pachymetry. The accurate measurement of both the anterior and posterior corneal surfaces and the anterior
Michael W Belin, Renato Ambrósio
doaj +1 more source
Common in atherogenesis and carcinogenesis: clonal hematopoiesis
Российский кардиологический журнал, 2023 Clonal hematopoiesis is a common age-dependent state accompanied by the expansion of mutant hematopoietic stem cells as a result of somatic mutations and is associated with a high risk of hematopoietic neoplasms and cardiovascular diseases.
A. A. Sleptsov +2 more
doaj +1 more source
, 2014 Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment interaction). However,
Stephens, Matthew, Wen, Xiaoquan
core +1 more source
Genetic heterogeneity of hepatitis E virus in Darfur, Sudan, and neighboring Chad. [PDF]
, 2005 The within-outbreak diversity of hepatitis E virus (HEV) was studied during the outbreak of hepatitis E that occurred in Sudan in 2004. Specimens were collected from internally displaced persons living in a Sudanese refugee camp and two camps implanted ...
Andraghetti, R +7 more
core +2 more sources
Heterogeneity of sporadic Parkinson’s disease: molecular approach to solving the problem
Анналы клинической и экспериментальной неврологии, 2007 We performed search for mutations in the LRRK2, PRKN (parkin)and SNCA (a-synuclein) genes in 359 patients of Slavonic ethnicorigin (169 men and 190 women) with Parkinsons disease, ofwhom 345 represented sporadic cases. Age at the disease onset wasfrom 23
S. N. Illarioshkin +11 more
doaj +1 more source
Genetic Heterogeneity in Human Disease [PDF]
Cell, 2010 Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation.
McClellan, Jon, King, Mary-Claire
openaire +2 more sources