Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Pulit, S.L."'
Autor:
Haasnoot, A.M.J.W., Schilham, M.W., Kamphuis, S., Muller, P.C.E.H., Heiligenhaus, A., Foell, D., Minden, K., Ophoff, R.A., Radstake, T.R.D.J., Hollander, A.I. den, Reinards, T.H.C.M., Hiddingh, S., Schalij-Delfos, N.E., Hoppenreijs, E.P.A.H., Rossum, M.A.J. van, Wouters, C., Saurenmann, R.K., Berg, J.M. van den, Wulffraat, N.M., Cate, R. ten, Boer, J.H. de, Pulit, S.L., Kuiper, J.J.W., ICON-JIA Study Grp
Publikováno v:
Arthritis & Rheumatology, 70, 1155-1165
ARTHRITIS & RHEUMATOLOGY, 70(7), 1155-1165. John Wiley & Sons Ltd.
Arthritis & rheumatology (Hoboken, N.J.), 70(7), 1155-1165. John Wiley and Sons Ltd
Arthritis & Rheumatology, 70(7), 1155. John Wiley and Sons Ltd
Arthritis and Rheumatology, 70(7), 1155-1165
Arthritis & Rheumatology, 70, 7, pp. 1155-1165
ARTHRITIS & RHEUMATOLOGY, 70(7), 1155-1165. John Wiley & Sons Ltd.
Arthritis & rheumatology (Hoboken, N.J.), 70(7), 1155-1165. John Wiley and Sons Ltd
Arthritis & Rheumatology, 70(7), 1155. John Wiley and Sons Ltd
Arthritis and Rheumatology, 70(7), 1155-1165
Arthritis & Rheumatology, 70, 7, pp. 1155-1165
Objective: Uveitis is a visually debilitating disorder that affects up to 30% of children with the most common forms of juvenile idiopathic arthritis (JIA). The disease mechanisms predisposing only a subgroup of children to uveitis are unknown. This
Akademický článek
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Autor:
Chauhan, G., Adams, H.H.H., Satizabal, C.L., Bis, J.C., Teumer, A., Sargurupremraj, M., Hofer, E., Trompet, S., Hilal, S., Smith, A.V., Jian, X.Q., Malik, R., Traylor, M., Pulit, S.L., Amouyel, P., Mazoyer, B., Zhu, Y.C., Kaffashian, S., Schilling, S., Beecham, G.W., Montine, T.J., Schellenberg, G.D., Kjartansson, O., Gudnason, V., Knopman, D.S., Griswold, M.E., Windham, B.G., Gottesman, R.F., Mosley, T.H., Schmidt, R., Saba, Y., Schmidt, H., Takeuchi, F., Yamaguchi, S., Nabika, T., Kato, N., Rajan, K.B., Aggarwal, N.T., Jager, P.L. de, Evans, D.A., Psaty, B.M., Rotter, J.I., Rice, K., Lopez, O.L., Liao, J.M., Chen, C., Cheng, C.Y., Wong, T.Y., Ikram, M.K., Lee, S.J. van der, Amin, N., Chouraki, V., DeStefano, A.L., Aparicio, H.J., Romero, J.R., Maillard, P., DeCarli, C., Wardlaw, J.M., Hernandez, M.D.V., Luciano, M., Liewald, D., Deary, I.J., Starr, J.M., Bastin, M.E., Maniega, S.M., Slagboom, P.E., Beekman, M., Deelen, J., Uh, H.W., Lemmens, R., Brodaty, H., Wright, M.J., Ames, D., Boncoraglio, G.B., Hopewell, J.C., Beecham, A.H., Blanton, S.H., Wright, C.B., Sacco, R.L., Wen, W., Thalamuthu, A., Armstrong, N.J., Chong, E., Schofield, P.R., Kwok, J.B., Grond, J. van der, Stott, D.J., Ford, I., Jukema, J.W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Lugt, A. van der, Wittfeld, K., Grabe, H.J., Hosten, N., Sarnowski, B. von, Volker, U., Levi, C., Jimenez-Conde, J., Sharma, P., Sudlow, C.L.M., Rosand, J., Woo, D., Cole, J.W., Meschia, J.F., Slowik, A., Thijs, V., Lindgren, A., Melander, O., Grewal, R.P., Rundek, T., Rexrode, K., Rothwell, P.M., Arnett, D.K., Jern, C., Johnson, J.A., Benavente, O.R., Wasssertheil-Smoller, S., Lee, J.M., Wong, Q., Mitchell, B.D., Rich, S.S., McArdle, P.F., Geerlings, M.I., Graaf, Y. van der, Bakker, P.I.W. de, Asselbergs, F.W., Srikanth, V., Thomson, R., McWhirter, R., Moran, C., Callisaya, M., Phan, T., Rutten-Jacobs, L.C.A., Bevan, S., Tzourio, C., Mather, K.A., Sachdev, P.S., Duijn, C.M. van, Worrall, B.B., Dichgans, M., Kittner, S.J., Markus, H.S., Ikram, M.A., Fornage, M., Launer, L.J., Seshadri, S., Longstreth, W.T., Debette, S., Stroke Genetics Network SiGN, ISGC, METASTROKE, ADGC, CHARGE Consortium
Publikováno v:
Neurology, 92(5), E486-E503
Collaborators (845): Astrid M. Vicente Free PMC article:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369905/ Objective: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. Methods: We p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fb26f47887dd576be7c52f7301324e0c
http://hdl.handle.net/1887/120380
http://hdl.handle.net/1887/120380
Autor:
Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen, Francioli, Laurent, Menelaou, A. (Androniki), Pulit, S.L. (Sara L.), Elbers, C.C. (Clara C.), Kloosterman, Wigard, van Setten, J. (Jessica), Nijman, Isaac, Renkens, Ivo, de Bakker, P.I.W. (Paul I. W.), Dijk, Freerk, Neerincx, Pieter, Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, Mathieu, Swertz, M.A. (Morris A.), Wijmenga, Cisca, Palamara, P.F. (Pier Francesco), Pe’er, I. (Itsik), Ye, K. (Kai), Lameijer, Eric-Wubbo, Moed, M.H. (Matthijs H.), Beekman, M. (Marian), Craen, Anton, Suchiman, H.E.D. (H. Eka D.), Slagboom, Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, J. (Jouke), Kattenberg, M. (Mathijs), Willemsen, Gonneke, Boomsma, Dorret, van Leeuwen, E.M. (Elisabeth M.), Karssen, Lennart, Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A. (Aaron), Hofman, A. (Albert), Uitterlinden, André, Duijn, Cornelia, van Oven, M. (Mannis), Kayser, M. (Manfred), Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Enckevort, David, Mei, Hailiang, Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, Barbera, Bot, Jan, Marschall, Tobias, Schönhuth, Alexander, Hehir-Kwa, Jayne, Handsaker, Robert, Polak, P. (Paz), Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada, Karol, McCarroll, S.A. (Steven A.), Sunyaev, S.R. (Shamil R.), Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, C. (Carolina), Oostra, B. (Ben), Veldink, Jan, van den Berg, L.H. (Leonard H.), Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David R.), Knijff, Peter, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Yuanping, Chen, Ruoyan, Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, Jasper, Ommen, Gert-Jan, The Genome of the Netherlands Consortium
Publikováno v:
Nersisyan, L, Nikoghosyan, M, Francioli, L C, Menelaou, A, Pulit, S L, Elbers, C C, Kloosterman, W P, van Setten, J, Nijman, I J, Renkens, I, de Bakker, P I W, van Dijk, F, Neerincx, P B T, Deelen, P, Kanterakis, A, Dijkstra, M, Byelas, H, van der Velde, K J, Platteel, M, Swertz, M A, Wijmenga, C, Palamara, P F, Pe'er, I, Ye, K, Lameijer, E-W, Moed, M H, Beekman, M, de Craen, A J M, Suchiman, H E D, Slagboom, P E, Guryev, V, Abdellaoui, A, Hottenga, J J, Kattenberg, M, Willemsen, G, Boomsma, D I, van Leeuwen, E M, Karssen, L C, Amin, N, Rivadeneira, F, Isaacs, A, Hofman, A, Uitterlinden, A G, van Duijn, C M, van Oven, M, Kayser, M, Vermaat, M, Laros, J F J, den Dunnen, J T, van Enckevort, D, Mei, H, Li, M, Stoneking, M, van Schaik, B D C, Bot, J, Marschall, T, Schonhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Estrada, K, McCarroll, S A, Sunyaev, S R, Hormozdiari, F, Koval, V, Medina-Gomez, C, Oostra, B, Veldink, J H, van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, de Knijff, P, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Wang, J, Li, N, Cao, S, Bovenberg, J A, van Ommen, G-J B & Arakelyan, A 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, 18758 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Telomere length (TL) regulation is an important factor in ageing, reproduction and cancer development. Genetic, hereditary and environmental factors regulating TL are currently widely investigated, however, their relative contribution to TL variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbec0f3bca0eb566284734623f469e3
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
Autor:
Van Der Spek, R.A., Van Rheenen, W., Pulit, S.L., Kenna, K.P., Ticozzi, N., Kooyman, M., Mclaughlin, R.L., Moisse, M., Van Eijk, K.R., Van Vugt, J.J.F.A., Lacoangeli, A., Andersen, P., Basak, A.N., Blair, I., De Carvalho, M., Chio, A., Corcia, P., Couratier, P., Drory, V.E., Glass, J.D., Hardiman, O., Mora, J.S., Morrison, K.E., Mitne-Neto, M., Robberecht, W., Shaw, P.J., Panades, M.P., Van Damme, P., Silani, V., Gotkine, M., Weber, M., Van Es, M.A., Landers, J.E., Al-Chalabi, A., Van Den Berg, L.H., Veldink, J.H., CONSOR, PMALSS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6559b8eee02780c030d9e7b2ee286af5
https://eprints.whiterose.ac.uk/133242/8/TIA1_LETTER_-FINAL_AUTHOR_VERSION.pdf
https://eprints.whiterose.ac.uk/133242/8/TIA1_LETTER_-FINAL_AUTHOR_VERSION.pdf
Autor:
Project, M.A.S.C., van Rheenen, W., Pulit, S.L., Dekker, A.M., Al Khleifat, A., Brands, W.J., Iacoangeli, A., Kenna, K.P., Kavak, E., Kooyman, M., McLaughlin, R.L., Middelkoop, B., Moisse, M., Schellevis, R.D., Shatunov, A., Sproviero, W., Tazelaar, G.H.P., van der Spek, R.A.A., van Doormaal, P.T.C., van Eijk, K.R., van Vugt, J., Basak, A.N., Blair, I.P., Glass, J.D., Hardiman, O., Hide, W., Landers, J.E., Mora, J.S., Morrison, K.E., Newhouse, S., Robberecht, W., Shaw, C.E., Shaw, P.J., van Damme, P., van Es, M.A., Wray, N.R., Al-Chalabi, A., van Den Berg, L.H., Veldink, J.H.
The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun Project MinE, an international
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c5538d9365603c302c0a4ab24d403e2c
https://eprints.whiterose.ac.uk/133970/7/s41431-018-0177-4.pdf
https://eprints.whiterose.ac.uk/133970/7/s41431-018-0177-4.pdf
Autor:
Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A., van der Spek, R.A., Westeneng, H.-J., Kool, L.J.B.G., Kenna, K.P., van Rheenen, W., Pulit, S.L., McLaughlin, R.L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K.E., Shaw, P.J., Shaw, C.E., Panadés, M.P., Mora Pardina, J.S., Glass, J.D., Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J.E., Ludolph, A.C., Weishaupt, J.H., van den Berg, L.H., Veldink, J.H., van Es, M.A., Project MinE ALS Sequencing Consortium, .
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::61b9def76cbbfcdc6c62708eb960f616
Autor:
Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J., Tazelaar, G.H.P., van Rheenen, W., Pulit, S.L., van der Spek, R., Dekker, A.M., Moisse, M., McLaughlin, R.L., Sproviero, W., Kenna, K.P., Kooyman, M., van Doormaal, P.T.C., van Eijk, K.E., Middelkoop, B.M., Schellevis , R.D., Brands, W.J., Al-Chalabi , A., Morrison, K.E., Newhouse, S.E., Shaw, C.E., van Es, M.A., Nazli Basak, A., Akçimen, F., Kocoglu, C., Tunca, C., Povedano, M., Mora, J.S., Glass , J.D., van Damme, P., Robberecht , W., Hardiman, O., Landers, J.E., van den Berg, L.H.
Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause for ALS. However, the exact pathogenicity a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::90777d1589c2383ec4fd13138bdc3fc3
https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf
https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c759ad2732bae6537beb9da5debc14dd
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3085733
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3085733
Autor:
Pulit, S.L.
Deoxyribonucleic acid (DNA) is made up of four bases: adenine (A), cytosine (C), guanine (G), and thymine (T). Assembled in a strategic fashion, these bases code for the unique genomes of all walks of life, from viruses, to rodents, to primates. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d9c745f258d2494c01fc1c29ac470269
https://dspace.library.uu.nl/handle/1874/325726
https://dspace.library.uu.nl/handle/1874/325726