Results 81 to 90 of about 329,928 (259)

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

CLINICAL AND GENETIC PARALLELS ALONG CELIAC DISEASE AMONG TOMSK CHILDREN

Педиатрическая фармакология, 2007
The article is devoted to the analysis of the genetic predisposition to celiac disease. The authors studied the associations of the HLA genes and modifier genes of the immune response (interleukine 1, inter leukine 1 receptor antagonist, inter leukine 4,
E.I. Kondrat’eva, V.P. Puzyrev, L.P. Nazarenko, A.A. Rudko, G.N. Yankina, E.V. Loshkova   +5 more
doaj   +2 more sources

Genetics of common polygenic ischaemic stroke: current understanding and future challenges. [PDF]

, 2011
Stroke is the third commonest cause of death and the major cause of adult neurological disability worldwide. While much is known about conventional risk factors such as hypertension, diabetes and incidence of smoking, these environmental factors only ...
Bevan, S, Markus, HS
core   +3 more sources

Network location and clustering of genetic mutations determine chronicity in a stylized model of genetic diseases

Scientific Reports, 2022
In a highly simplified view, a disease can be seen as the phenotype emerging from the interplay of genetic predisposition and fluctuating environmental stimuli.
Piotr Nyczka, Johannes Falk, Marc-Thorsten Hütt   +2 more
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Pilot GWAS of caries in African-Americans shows genetic heterogeneity

BMC Oral Health, 2019
Background Dental caries is the most common chronic disease in the US and disproportionately affects racial/ethnic minorities. Caries is heritable, and though genetic heterogeneity exists between ancestries for a substantial portion of loci associated ...
E. Orlova, J. C. Carlson, M. K. Lee, E. Feingold, D. W. McNeil, R. J. Crout, R. J. Weyant, M. L. Marazita, J. R. Shaffer   +8 more
doaj   +1 more source

Ethical aspects of genetic predisposition to environmentally-related disease

Science of The Total Environment, 1996
Some individuals are highly susceptible to disease caused by chemical exposures and this hypersusceptibility can be genetically determined. Because biomarker technology for the determination of genetic predisposition is at the disposal of researchers, the capability therefore exists to include genetic screening in epidemiologic studies. The application
Philippe Grandjean, Marja Sorsa
openaire   +3 more sources

Genetic predisposition, modifiable risk factor profile and long-term dementia risk in the general population

Nature Network Boston, 2019
The exact etiology of dementia is still unclear, but both genetic and lifestyle factors are thought to be key drivers of this complex disease. The recognition of familial patterns of dementia has led to the discovery of genetic factors that have a role ...
S. Licher, S. Ahmad, Hata Karamujić‐Čomić, T. Voortman, M. Leening, M. A. Ikram, M. Ikram   +6 more
semanticscholar   +1 more source

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +1 more source

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, Gál, István, Lakatos, László, Lakatos, Péter László, Papp, János   +4 more
core   +1 more source