Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Marianna R. Bevova"'
Autor:
Eva C Verbeek, Marianna R Bevova, Zoltán Bochdanovits, Patrizia Rizzu, Ingrid M C Bakker, Tiny Uithuisje, Eco J De Geus, Johannes H Smit, Brenda W Penninx, Dorret I Boomsma, Witte J G Hoogendijk, Peter Heutink
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e79921 (2013)
Major depressive disorder (MDD) is a psychiatric disorder, characterized by periods of low mood of more than two weeks, loss of interest in normally enjoyable activities and behavioral changes. MDD is a complex disorder and does not have a single gen
Externí odkaz:
https://doaj.org/article/1f07d89530b04e40bf196189b9215346
Autor:
Eva C Verbeek, Ingrid M C Bakker, Marianna R Bevova, Zoltán Bochdanovits, Patrizia Rizzu, David Sondervan, Gonneke Willemsen, Eco J de Geus, Johannes H Smit, Brenda W Penninx, Dorret I Boomsma, Witte J G Hoogendijk, Peter Heutink
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e37384 (2012)
Major depressive disorder (MDD) is a psychiatric disorder that is characterized--amongst others--by persistent depressed mood, loss of interest and pleasure and psychomotor retardation. Environmental circumstances have proven to influence the aetiolo
Externí odkaz:
https://doaj.org/article/12e27116c15a470b9effc8a28fe5067f
Autor:
A. S. Zlobin, E. A. Sokolova, V. L. Osakovsky, Victor Guryev, U. A. Boyarskih, T. M. Sivtseva, Maksim L. Filipenko, Marianna R. Bevova, Yakov A. Tsepilov, Yu. S. Aulchenko, S. Sh. Sharapov
Publikováno v:
Doklady. Biochemistry and biophysics, 474(1), 213-216. MAIK NAUKA/INTERPERIODICA/SPRINGER
We studied the genetic diversity of the Yakut population using exome sequencing. We performed comparative analysis of the Yakut population and the populations that are included in the "1000 Genomes" project and we identified the alleles specific to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b454aca4b9f9d1638107c4975a2eca8
https://doi.org/10.1134/s1607672917030188
https://doi.org/10.1134/s1607672917030188
Autor:
Marianna R. Bevova, Diana C.J. Spierings, Ester Falconer, Niek van Wietmarschen, Peter M. Lansdorp, Ashley D. Sanders, Victor Guryev, David Porubský, Mark Hills
Publikováno v:
Genome Research, 26(11), 1565-1574. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
Haplotypes are fundamental to fully characterize the diploid genome of an individual, yet methods to directly chart the unique genetic makeup of each parental chromosome are lacking. Here we introduce single-cell DNA template strand sequencing (Stran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f9067a553175bf474702dbd24beaf9
https://doi.org/10.1101/gr.209841.116
https://doi.org/10.1101/gr.209841.116
Autor:
Eva C. Verbeek, Witte J.G. Hoogendijk, Jacqueline G. Hugtenburg, T. Uithuisje, Peter Heutink, Marianna R. Bevova, Yuri Milaneschi, Brenda W.J.H. Penninx, D.B.M. Straver, Pierre M. Bet
Publikováno v:
Pharmacogenomics Journal, 16(2), 202-208. Nature Publishing Group
Bet, P M, Verbeek, E C, Milaneschi, Y, Straver, D B M, Uithuisje, T, Bevova, M R, Hugtenburg, J G, Heutink, P, Penninx, B W J H & Hoogendijk, W J G 2016, ' A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort ', Pharmacogenomics Journal, vol. 16, no. 2, pp. 202-208 . https://doi.org/10.1038/tpj.2015.38
Pharmacogenomics journal, 16(2), 202-208. Nature Publishing Group
The pharmacogenomics journal 16(2), 202-208 (2015). doi:10.1038/tpj.2015.38
Pharmacogenomics Journal, 16(2), 202-208
Bet, P M, Verbeek, E C, Milaneschi, Y, Straver, D B M, Uithuisje, T, Bevova, M R, Hugtenburg, J G, Heutink, P, Penninx, B W J H & Hoogendijk, W J G 2016, ' A common polymorphism in the ABCB1 gene is associated with side effects of PGP-dependent antidepressants in a large naturalistic Dutch cohort ', Pharmacogenomics Journal, vol. 16, no. 2, pp. 202-208 . https://doi.org/10.1038/tpj.2015.38
Pharmacogenomics journal, 16(2), 202-208. Nature Publishing Group
The pharmacogenomics journal 16(2), 202-208 (2015). doi:10.1038/tpj.2015.38
Pharmacogenomics Journal, 16(2), 202-208
The drug efflux transporter permeability glycoprotein (PGP) and cytochrome P450 (CYP) 2C19 are important for eliminating antidepressants from the brain and body. The ABCB1 gene, encoding for PGP, and CYP2C19 gene have several variants that could infl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3809a346127f5db90decc0209856d54
https://pure.eur.nl/en/publications/18681630-73c0-4589-9db0-843dbb5aa98a
https://pure.eur.nl/en/publications/18681630-73c0-4589-9db0-843dbb5aa98a
Publikováno v:
Molecular Genetics Microbiology and Virology (Russian version). 38:51
In December 2019, the first cases of pneumonia of unknown etiology emerged in Wuhan, China Later, the pneumonia has been associated with the new coronavirus In February 2020 the World Health Organisation (WHO) named a new disease COVID-19 and the vir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c04116ad62d6fe5a86252bc7450fb2d
https://doi.org/10.17116/molgen20203802151
https://doi.org/10.17116/molgen20203802151
Autor:
J. R. Davila, M-J Sobrido, Conceição Bettencourt, Orr Shomroni, Marianna R. Bevova, Jose Lopez-Sendon, Beatriz Quintáns, I. Bakker, Peter Heutink, Juan García-Caldentey, J. G. de Yebenes, Patrizia Rizzu
Publikováno v:
Clinical Genetics. 85:154-158
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0367465a6926369aa65b8f13d5f00d7
https://doi.org/10.1111/cge.12133
https://doi.org/10.1111/cge.12133
Autor:
Stephen A. Damiani, Petra J. W. Pouwels, Joanna Crawford, Truus E.M. Abbink, Paul J. Lockhart, Prab Prabhakar, Ishwar Chander Verma, Ryan J. Taft, Tena Rosser, Nicole I. Wolf, Kate Pope, Cas Simons, Irenaeus F.M. de Coo, David Miller, Adeline Vanderver, Richard J. Leventer, Marjo S. van der Knaap, Susan Blaser, Monica Juneja, Marianna R. Bevova, Julian Raiman, Kelin Ru, Johanna L. Schmidt, Sean M. Grimmond
Publikováno v:
American journal of human genetics, 92(5), 774-780. Cell Press
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American journal of human genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American Journal of Human Genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
American Journal of Human Genetics, 92(5), 774-780. Cell Press
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American journal of human genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
Taft, R J, Vanderver, A, Leventer, R J, Damiani, S A, Simons, C, Grimmond, S M, Miller, D, Schmidt, J, Lockhart, P J, Pope, K, Ru, K L, Crawford, J, Rosser, T, de Coo, I F M, Juneja, M, Verma, I C, Prabhakar, P, Blaser, S, Raiman, J, Pouwels, P J W, Bevova, M R, Abbink, G E M, van der Knaap, M S & Wolf, N I 2013, ' Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity ', American Journal of Human Genetics, vol. 92, no. 5, pp. 774-780 . https://doi.org/10.1016/j.ajhg.2013.04.006
American Journal of Human Genetics, 92(5), 774-780. Cell Press
Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children presenting with a leukoencephalopathy remain without a specific diagnosis. Here, we report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dab9446353b93d11aef5f6fbd9ddb3
https://hdl.handle.net/1871.1/8eeab4b7-6d75-4184-b6f6-2fd306fd4437
https://hdl.handle.net/1871.1/8eeab4b7-6d75-4184-b6f6-2fd306fd4437
Autor:
Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns
Publikováno v:
Cerebellum, 14(3), 378-81. SPRINGER
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7
Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative disorders. Although many ataxia genes have been identified, about 50 % of cases await the identification of the genetic cause [1]. High-throughput sequencing, namely wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b079dc1170073cbab678ec415d02b4a2
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd
https://research.rug.nl/en/publications/2558a28b-f70c-47d1-90e6-5f4bff568bdd
Publikováno v:
Trends in Genetics. 18:367-376
Mice have proved to be powerful models for understanding obesity in humans and farm animals. Single-gene mutants and genetically modified mice have been used successfully to discover genes and pathways that can regulate body weight. For polygenic obe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9b80e45bd9653bcaca0077625d9099c
https://doi.org/10.1016/s0168-9525(02)02703-8
https://doi.org/10.1016/s0168-9525(02)02703-8