Results 41 to 50 of about 5,372,923 (315)

Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma

Scientific Reports, 2017
The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide ...
Y. Liu, M. Brossard, C. Sarnowski, A. Vaysse, M. Moffatt, P. Margaritte-Jeannin, F. Llinares-López, M. H. Dizier, M. Lathrop, W. Cookson, E. Bouzigon, F. Demenais   +11 more
doaj   +1 more source

Ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşleri

Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, 2022
Amaç: Araştırma, ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşlerini belirlemek amacıyla yapılmıştır.Gereç ve Yöntem: Araştırma 1 Aralık-31 Mayıs 2017 tarihleri arasında, tanımlayıcı tipte, 10 fakülte ...
Rukiye Demir, Ayden Çoban, Ayten Taşpınar   +2 more
doaj   +1 more source

Accuracy of Predicting the Genetic Risk of Disease Using a Genome-Wide Approach [PDF]

, 2008
Background: The prediction of the genetic disease risk of an individual is a powerful public health tool. While predicting risk has been successful in diseases which follow simple Mendelian inheritance, it has proven challenging in complex diseases for ...
Daetwyler, Hans D., Daetwyler Hans D., Villanueva, Beatriz, Daetwyler, HD, Woolliams, John A., Hans D Daetwyler, John A Woolliams, Villanueva Beatriz, Daetwyler, H.D., Woolliams John A., Woolliams, JA, Villanueva, B., Beatriz Villanueva, Villanueva, B, Woolliams, J.A.   +14 more
core   +1 more source

Genetics of Prion Disease

Current Opinion in Genetics & Development, 2011
Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Lloyd, Sarah E, Mead, Simon, Collinge, John   +2 more
openaire   +3 more sources

Genetics of Parkinson disease [PDF]

NeuroRX, 2004
Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 ...
Nathan, Pankratz, Tatiana, Foroud
openaire   +4 more sources

Discovery of Sexual Dimorphisms in Metabolic and Genetic Biomarkers [PDF]

, 2011
Metabolomic profiling and the integration of whole-genome genetic association data has proven to be a powerful tool to comprehensively explore gene regulatory networks and to investigate the effects of genetic variation at the molecular level.
Polonikov, Alexey, Wichmann, Heinz-Erich, Fabian J. Theis, Stephan Weidinger, Wichmann Heinz Erich, Gieger, C., Ried, Janina S., Christian Gieger, Krumsiek, J., Karsten Suhre, Prehn, C., Kirstin Mittelstrass, Heinz Erich Wichmann, Polonikov, A., Weidinger, S., Alexey Polonikov, Werner Roemisch-Margl, Yu Zhonghao, Theis, F.J., Wang-Sattler, R., Jan Krumsiek, Ried Janina S., Yu, Z., Gieger Christian, Mittelstrass, Kirstin, Wichmann, H.-E., Polonikov Alexey, Illig, T., Fabian J Theis, Peters, Annette, Illig Thomas, Mittelstrass Kirstin, Zhonghao Yu, Theis, Fabian J., Peters Annette, Kronenberg Florian, Florian Kronenberg, Jerzy Adamski, Annette Peters, Wang-Sattler, Rui, Krumsiek, Jan, Theis Fabian J., Peters, A., Krumsiek Jan, Illig, Thomas, Roemisch-Margl Werner, Wang-Sattler Rui, Meitinger, Thomas, Adamski, Jerzy, Ried, J.S., Cornelia Prehn, Thomas Illig, Römisch-Margl, W., Suhre Karsten, Gieger, Christian, Weidinger, Stephan, Weidinger Stephan, Suhre, K., Roemisch-Margl, Werner, Kronenberg, Florian, Yu, Zhonghao, Adamski Jerzy, Thomas Meitinger, Meitinger, T., Prehn, Cornelia, Rui Wang-Sattler, Kronenberg, F., Janina S. Ried, Prehn Cornelia, Adamski, J., Mittelstraß, K., Suhre, Karsten, Janina S Ried, Meitinger Thomas, Mittelstrass, K;Ried, JS;Yu, Z;Krumsiek, J;Gieger, C;Prehn, C;Roemisch-Margl, W;Polonikov, A;Peters, A;Theis, FJ;Meitinger, T;Kronenberg, F;Weidinger, S;Wichmann, HE;Suhre, K;Wang-Sattler, R;Adamski, J;Illig, T, Mittelstraß, K. ; Ried, J.S. ; Yu, Z. ; Krumsiek, J. ; Gieger, C. ; Prehn, C. ; Römisch-Margl, W. ; Polonikov, A. ; Peters, A. ; Theis, F.J. ; Meitinger, T. ; Kronenberg, F. ; Weidinger, S. ; Wichmann, H.-E. ; Suhre, K. ; Wang-Sattler, R. ; Adamski, J. ; Illig, T.   +75 more
core   +1 more source

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

, 2022
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body ...
Bulanov, Nikolay, Filatova, Ekaterina, Alexey Moiseev, Victor Fomin, Moiseev, Alexey, Moiseev, Sergey, Germain, Dominique P., Ekaterina Filatova, Tao, Ekaterina, Dominique P. Germain, Ekaterina Tao, Fomin, Victor, Nikolay Bulanov, Sergey Moiseev   +13 more
core   +1 more source

Genetic dysbiosis: the role of microbial insults in chronic inflammatory diseases [PDF]

, 2014
Thousands of bacterial phylotypes colonise the human body and the host response to this bacterial challenge greatly influences our state of health or disease. The concept of infectogenomics highlights the importance of host genetic factors in determining
Syed Tariq Sadiq, Nibali, L, Luigi Nibali, Henderson, B, Sadiq, ST, Brian Henderson, Donos, N, Nikos Donos   +7 more
core   +2 more sources

Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review

, 2023
Alopecia areata (AA) is a chronic, non-scarring, immune-mediated skin disease that affects approximately 0.5–2% of the global population. The etiology of AA is complex and involves genetic and environmental factors, with significant advancements in
Ching-Ying Wu, Chih-Yi Ho, Jeff Yi-Fu Chen, Chiu-Yen Wu   +3 more
core   +1 more source

The Genetics of Alzheimer’s Disease [PDF]

Scientifica, 2012
Alzheimer’s disease is a progressive, neurodegenerative disease that represents a growing global health crisis. Two major forms of the disease exist: early onset (familial) and late onset (sporadic). Early onset Alzheimer’s is rare, accounting for less than 5% of disease burden.
openaire   +3 more sources