Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Pittman AM"'
Autor:
Lopes, LR, Murphy, D, Bugiardini, E, Salem, R, Jager, J, Futema, M, Majid Akhtar, M, Savvatis, K, Woodward, C, Pittman, AM, Hanna, MG, Syrris, P, Pitceathly, RDS, Elliott, PM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::094901460c0703a1a0c705471aeb6ae8
https://openaccess.sgul.ac.uk/id/eprint/113278/6/CIRCGEN.121.003388.pdf
https://openaccess.sgul.ac.uk/id/eprint/113278/6/CIRCGEN.121.003388.pdf
Autor:
Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ
Publikováno v:
INTERNATIONAL JOURNAL OF CARDIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0d0779fe6829a68132f9cb98df084141
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11419
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11419
Autor:
Mencacci, NE, Kamsteeg, E-J, Nakashima, K, R'Bibo, L, Lynch, DS, Balint, B, Willemsen, MAAP, Adams, ME, Wiethoff, S, Suzuki, K, Davies, CH, Ng, J, Meyer, E, Veneziano, L, Giunti, P, Hughes, D, Raymond, FL, Carecchio, M, Zorzi, G, Nardocci, N, Barzaghi, C, Garavaglia, B, Salpietro, V, Hardy, J, Pittman, AM, Houlden, H, Kurian, MA, Kimura, H, Vissers, LELM, Wood, NW, Bhatia, KP
Publikováno v:
European Human Genetics Conference 2016, pp. 32–33, Barcellona, Spain, 21-24/5/2016
info:cnr-pdr/source/autori:Mencacci, N. E.; Kamsteeg, E. J.; Nakashima, K; R'Bibo, L.; Lynch, D.; Balint, B.; Willemsen, M.; Adams, M.; Wiethoff, S.; Suzuki K; Davies, J; Ng, J.; Meyer, E.; Veneziano, L.; Giunti, P.; Hughes, D.; Raymond, L; Carecchio, M.; Zorzi, G.; Nardocci, N.; Barzaghi, C.; Garavaglia, B.; Salpietro, V.; Hardy, J.; Pittman, A.; Houlden, H.; Kurian, M.; Kimura H; Wood, N.; Bhatia, K; Vissers L./congresso_nome:European Human Genetics Conference 2016/congresso_luogo:Barcellona, Spain/congresso_data:21-24%2F5%2F2016/anno:2016/pagina_da:32/pagina_a:33/intervallo_pagine:32–33
American Journal of Human Genetics, 98, 4, pp. 763-71
American Journal of Human Genetics, 98, 763-71
info:cnr-pdr/source/autori:Mencacci, N. E.; Kamsteeg, E. J.; Nakashima, K; R'Bibo, L.; Lynch, D.; Balint, B.; Willemsen, M.; Adams, M.; Wiethoff, S.; Suzuki K; Davies, J; Ng, J.; Meyer, E.; Veneziano, L.; Giunti, P.; Hughes, D.; Raymond, L; Carecchio, M.; Zorzi, G.; Nardocci, N.; Barzaghi, C.; Garavaglia, B.; Salpietro, V.; Hardy, J.; Pittman, A.; Houlden, H.; Kurian, M.; Kimura H; Wood, N.; Bhatia, K; Vissers L./congresso_nome:European Human Genetics Conference 2016/congresso_luogo:Barcellona, Spain/congresso_data:21-24%2F5%2F2016/anno:2016/pagina_da:32/pagina_a:33/intervallo_pagine:32–33
American Journal of Human Genetics, 98, 4, pp. 763-71
American Journal of Human Genetics, 98, 763-71
Contains fulltext : 167700.pdf (Publisher’s version ) (Open Access) Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here,
Autor:
Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG, Pitceathly, RD
Publikováno v:
Neurology: Genetics
Objective Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA (mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to determine the prevalence of RNase H1 gene (RNASEH1) mutations among patients with mitoc
Autor:
Lubbe, SJ, Escott-Price, V, Brice, A, Gasser, T, Pittman, AM, Bras, J, Hardy, J, Heutink, P, Wood, NM, Singleton, AB, Grosset, DG, Carroll, CB, Law, MH, Demenais, F, Iles, MM, Bishop, DT, Newton-Bishop, J, Williams, NM, Morris, HR
A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::28d56c08e9bba981cebc4e0e1fc26f26
https://eprints.whiterose.ac.uk/105388/8/1-s2.0-S0197458016301506-main.pdf
https://eprints.whiterose.ac.uk/105388/8/1-s2.0-S0197458016301506-main.pdf
Autor:
Houlston, RS, Webb, E, Broderick, P, Pittman, AM, Di Bernardo, MC, Lubbe, S, Chandler, I, Vijayakrishnan, J, Sullivan, K, Penegar, S, Carvajal-Carmona, L, Howarth, K, Jaeger, E, Spain, SL, Walther, A, Barclay, E, Martin, L, Gorman, M, Domingo, E, Teixeira, AS, Kerr, D, Cazier, J-B, Niittymaki, I, Tuupanen, S, Karhu, A, Aaltonen, LA, Tomlinson, IPM, Farrington, SM, Tenesa, A, Prendergast, JGD, Barnetson, RA, Cetnarskyj, R, Porteous, ME, Pharoah, PDP, Koessler, T, Hampe, J, Buch, S, Schafmayer, C, Tepel, J, Schreiber, S, Voelzke, H, Chang-Claude, J, Hoffmeister, M, Brenner, H, Zanke, BW, Montpetit, A, Hudson, TJ, Gallinger, S, Campbell, H, Dunlop, MG, Study, COGENT, Consor, CCAS, Consortium, C, Assoc, ICCG
Publikováno v:
Houlston, R S, Webb, E, Broderick, P, Pittman, A M, Di Bernardo, M C, Lubbe, S, Chandler, I, Vijayakrishnan, J, Sullivan, K, Penegar, S, Carvajal-Carmona, L, Howarth, K, Jaeger, E, Spain, S L, Walther, A, Barclay, E, Martin, L, Gorman, M, Domingo, E, Teixeira, A S, Kerr, D, Cazier, J-B, Niittymäki, I, Tuupanen, S, Karhu, A, Aaltonen, L A, Tomlinson, I P M, Farrington, S M, Tenesa, A, Prendergast, J, Barnetson, R A, Cetnarskyj, R, Porteous, M E, Pharoah, P D P, Koessler, T, Hampe, J, Buch, S, Schafmayer, C, Tepel, J, Schreiber, S, Völzke, H, Chang-Claude, J, Hoffmeister, M, Brenner, H, Zanke, B W, Montpetit, A, Hudson, T J, Gallinger, S & Campbell, H & Dunlop, M G 2008, ' Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer ', Nature Genetics, vol. 40, no. 12, pp. 1426-1435 . https://doi.org/10.1038/ng.262
Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly influence the risk of developing colorectal cancer (CRC). To enhance power to identify additional loci with similar effect sizes, we conducted a met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47660374a8e3ff9232a78e7b9d0741c6
https://www.pure.ed.ac.uk/ws/files/8326424/Meta_analysis_of_genome_wide_association_data_identifies_four_new_susceptibility_loci_for_colorectal_cancer.pdf
https://www.pure.ed.ac.uk/ws/files/8326424/Meta_analysis_of_genome_wide_association_data_identifies_four_new_susceptibility_loci_for_colorectal_cancer.pdf
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