Results 81 to 90 of about 2,406,008 (205)

Genetics of Parkinson's disease

Dialogues in Clinical Neuroscience, 1998
A genetic contribution to the etiology of Parkinson's disease (PD) is now well established, based on the demonstration of a familial aggregation of the disease as demonstrated by several case–control and twin studies, and on the description of large multigenerational families, in whom PD is inherited in a Mendelian fashion.
openaire   +7 more sources

Genetic diseases and molecular genetics [PDF]

Nephrology Dialysis Transplantation, 2013
C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, C. Legendre, S. Babu, D. Cohen, Y. Delmas, R. Furman, O. Gaber, L. Greenbaum, M. Hourmant, T. Jungraithmayr, Y. Lebranchu, M. Riedl, N. Sheerin, C. L. Bedrosian, C. Loirat, N. Sheerin, C. Legendre, L. Greenbaum, R. Furman, D. Cohen, A. O. Gaber, C. Bedrosian, C. Loirat, H. Haller, C. Licht, P. Muus, C. Legendre, K. Douglas, M. Hourmant, M. Herthelius, A. Trivelli, T. Goodship, G. Remuzzi, C. Bedrosian, C. Loirat, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, G. Serino, C. Curci, S. Cox, G. De Palma, F. Schena, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, K. Voskarides, C. Deltas, M. Zavros, A. Pierides, M. Arsali, P. Demosthenous, L. Papazachariou, K. Voskarides, M. Kkolou, M. Hadjigavriel, M. Zavros, C. Deltas, A. Pierides, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, J. Kingswood, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, J. Kingswood, B. Zonnenberg, M. Frost, W. Cheung, J. Wang, T. Brechenmacher, D. Lam, J. Bissler   +199 more
openaire   +3 more sources

Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

Turkish Journal of Hematology, 2020
Duran Canatan, Abdullah Çim, Serpil Delibaş, Emel Altunsoy, Serdar Ceylaner   +4 more
doaj   +1 more source

Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]

, 2011
Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core   +1 more source

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]

, 2020
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Donovan, Margaret KR, Frazer, Kelly A   +3 more
core  

Sex-Biased Gene Flow Among Elk in the Greater Yellowstone Ecosystem [PDF]

, 2014
We quantified patterns of population genetic structure to help understand gene flow among elk populations across the Greater Yellowstone Ecosystem.
Anderson, Neil, Beja-Pereira, Albano, Chen, Shanyuan, Cross, Paul C., Ebinger, Michael, Edwards, Hank, Garrott, Robert A., Hand, Brian K., Kardos, Marty D., Kauffman, Matt, Landguth, Erin L., Luikart, Gordon, Middleton, Arthur, Schwartz, Michael K., Scurlock, Brandon, White, P.J., Zager, Pete   +16 more
core   +1 more source

Growth disorders caused by variants in epigenetic regulators: progress and prospects

Frontiers in Endocrinology
Epigenetic modifications play an important role in regulation of transcription and gene expression. The molecular machinery governing epigenetic modifications, also known as epigenetic regulators, include non-coding RNA, chromatin remodelers, and enzymes
Julian C. Lui
doaj   +1 more source

Computing vs. Genetics [PDF]

, 2009
This chapter first presents the interrelations between computing and genetics, which both are based on information and, particularly, self-reproducing artificial systems. It goes on to examine genetic code from a computational viewpoint.
Barreiro Sorrivas, Jose Maria, Pazos Sierra, Juan   +1 more
core   +1 more source

DYSTROPHIC EPIDERMOLYSIS BULLOSA: CASE SERIES OF THREE RELATED PATIENTS

Central Asian Journal of Medical Hypotheses and Ethics
Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare inherited skin disorder characterized by blistering, chronic wounds, and scarring due to mutations in the COL7A1 gene. While epidemiological data are available from certain regions, information
Ulpan Zharylkap, Sanimbala Ospanova, Aigerim Idrissova   +2 more
doaj   +1 more source

Prion-induced neurotoxicity: Possible role for cell cycle activity and DNA damage response. [PDF]

, 2015
Protein misfolding neurodegenerative diseases arise through neurotoxicity induced by aggregation of host proteins. These conditions include Alzheimer's disease, Huntington's disease, Parkinson's disease, motor neuron disease, tauopathies and prion ...

core   +1 more source