Zobrazeno 1 - 10 of 213 pro vyhledávání: '"Jensen, Ub"'
1
Akademický článek
A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry
Autor: Vaeth S, Andersen H, Christensen R, Jensen UB
Publikováno v: Clinical Epidemiology, Vol Volume 13, Pp 113-120 (2021)
Signe Vaeth,1 Henning Andersen,2 Rikke Christensen,1 Uffe Birk Jensen1 1Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark; 2Department of Neurology, Aarhus University Hospital, Aarhus C, DenmarkCorrespondence: Signe Vaeth
Externí odkaz: https://doaj.org/article/b59187438d0c45e3a5ed566184931189
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2
Akademický článek
Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry
Autor: Vaeth S, Jensen UB, Christensen R, Andersen H
Publikováno v: Clinical Epidemiology, Vol Volume 8, Pp 783-787 (2016)
Signe Vaeth,1 Uffe Birk Jensen,1 Rikke Christensen,1 Henning Andersen2 1Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, 2Department of Neurology, Aarhus University Hospital, Aarhus C, Denmark Purpose: To validate the diagnostic
Externí odkaz: https://doaj.org/article/7771074be0b84709bb9b8d29a41fd414
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4
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Autor: Pfeiler, G, Vigorito, E, Kuchenbaecker, KB, Beesley, J, Adlard, J, Agnarsson, BA, Andrulis, IL, Arun, BK, Barjhoux, L, Belotti, M, Benitez, J, Berger, A, Phelan, CM, Piedmonte, M, Poppe, B, Pujana, MA, Radice, P, Rennert, G, Rodriguez, GC, Rookus, MA, Ross, EA, Bojesen, A, Schmutzler, RK, Simard, J, Singer, CF, Slavin, TP, Soucy, P, Southey, M, Steinemann, D, Stoppa-Lyonnet, D, Sukiennicki, G, Sutter, C, Bonanni, B, Szabo, CI, Tea, MK, Teixeira, MR, Teo, SH, Terry, MB, Thomassen, M, Tibiletti, MG, Tihomirova, L, Tognazzo, S, van Rensburg, EJ, Brewer, C, Varesco, L, Varon-Mateeva, R, Vratimos, A, Weitzel, JN, McGuffog, L, Kirk, J, Toland, AE, Hamann, U, Lindor, N, Ramus, SJ, Caldes, T, Greene, MH, Couch, FJ, Offit, K, Pharoah, PDP, Chenevix-Trench, G, Antoniou, AC, Prokunina-Olsson, L, Caligo, MA, Campbell, I, Chan, SB, Claes, KBM, Cohn, DE, Cook, J, Daly, MB, Damiola, F, Davidson, R, Pauw, AD, Delnatte, C, Diez, O, Domchek, SM, Dumont, M, Durda, K, Dworniczak, B, Easton, DF, Eccles, D, Edwinsdotter Ardnor, C, Eeles, R, Ejlertsen, B, Ellis, S, Evans, G, Feliubadalo, L, Fostira, F, Foulkes, WD, Friedman, E, Frost, D, Gaddam, P, Ganz, PA, Garber, J, Garcia-Barberan, V, Gauthier-Villars, M, Gehrig, A, Gerdes, AM, Giraud, S, Godwin, AK, Goldgar, DE, Hake, CR, Hansen, TVO, Healey, S, Hodgson, S, Hogervorst, FBL, Houdayer, C, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jacobs, L, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, Jensen, UB, John, EM, Vijai, J, Karlan, BY, Kast, K, Investigators, K, Khan, S, Kwong, A, Laitman, Y, Lester, J, Lesueur, F, Liljegren, A, Lubinski, J, Mai, PL, Manoukian, S, Mazoyer, S, Meindl, A, Mensenkamp, AR, Montagna, M, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Olah, E, Olopade, OI, Ong, KR, Osorio, A, Park, SK, Paulsson-Karlsson, Y, Pedersen, IS, Peissel, B, Peterlongo, P
Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identif
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6c9d8e45b54b76540dfebb79122ffc8f
https://ddd.uab.cat/record/254191
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5
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Autor: Spurdle, AB, Couch, FJ, Parsons, MT, McGuffog, L, Barrowdale, D, Bolla, MK, Wang, Q, Healey, S, Schmutzler, RK, Wappenschmidt, B, Rhiem, K, Hahnen, E, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Plendl, H, Niederacher, D, Sutter, C, Wang-Gohrke, S, Steinemann, D, Preisler-Adams, S, Kast, K, Varon-Mateeva, R, Ellis, S, Frost, D, Platte, R, Perkins, J, Gareth Evans, D, Izatt, L, Eeles, R, Adlard, J, Davidson, R, Cole, T, Scuvera, G, Manoukian, S, Bonanni, B, Mariette, F, Fortuzzi, S, Viel, A, Pasini, B, Papi, L, Varesco, L, Balleine, R, Nathanson, KL, Domchek, SM, Offitt, K, Jakubowska, A, Lindor, N, Thomassen, M, Jensen, UB, Rantala, J, Borg, Å, Andrulis, IL, Miron, A, Hansen, TVO, Caldes, T, Neuhausen, SL, Toland, AE, Nevanlinna, H, Montagna, M, Garber, J, Godwin, AK, Osorio, A, Factor, RE, Terry, MB, Rebbeck, TR, Karlan, BY, Southey, M, Rashid, MU, Tung, N, Pharoah, PDP, Blows, FM, Dunning, AM, Provenzano, E, Hall, P, Czene, K, Schmidt, MK, Broeks, A, Cornelissen, S, Verhoef, S, Fasching, PA, Beckmann, MW, Ekici, AB, Slamon, DJ, Bojesen, SE, Nordestgaard, BG
Publikováno v: Spurdle, AB; Couch, FJ; Parsons, MT; McGuffog, L; Barrowdale, D; Bolla, MK; et al.(2014). Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Research, 16(1), 1-16. doi: 10.1186/s13058-014-0474-y. UCLA: Retrieved from: http://www.escholarship.org/uc/item/24p313p5
© 2014 Spurdle et al. Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::dc7673aca9bed63daf5ef3c4e551a6fa
http://www.escholarship.org/uc/item/24p313p5
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6
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms
Autor: Rasmussen, Tb, Hansen, J., Nissen, Ph, Palmfeldt, J., Dalager, S., Jensen, Ub, Kim, Wy, Heickendorff, L., Mølgaard, H., Jensen, Hk, Sørensen, Ke, Baandrup, Ulrik, Bross, P., Mogensen, J.
Publikováno v: Rasmussen, T, Hansen, J, Nissen, P, Palmfeldt, J, Dalager, S, Jensen, U, Kim, W, Heickendorff, L, Mølgaard, H, Jensen, H, Sørensen, K, Baandrup, U, Bross, P & Mogensen, J 2013, ' Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms ', Clinical Genetics, vol. 84, no. 1, pp. 20-30 . https://doi.org/10.1111/cge.12056
Clinical Genetics
Clinical Genetics; Vol 84
Rasmussen, T B, Hansen, J, Nissen, P H, Palmfeldt, J, Dalager, S, Jensen, U B, Kim, W Y, Heickendorff, L, Mølgaard, H, Jensen, H K, Sørensen, K E, Baandrup, U T, Bross, P & Mogensen, J 2013, ' Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms ', Clinical Genetics, vol. 84, no. 1, pp. 20-30 . https://doi.org/10.1111/cge.12056
Rasmussen, T B, Hansen, J, Nissen, P H, Palmfeldt, J, Dalager, S, Jensen, U B, Kim, W Y, Heickendorff, L, Molgaard, H, Jensen, H K, Sorensen, K E, Baandrup, U T, Bross, P & Mogensen, J 2013, ' Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms ', Clinical Genetics, vol. 84, no. 1, pp. 20-30 . https://doi.org/10.1111/cge.12056
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS). Desmoplakin is part of all desmosomes, which are abundantly expressed in both myocardial and epidermal tissue and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6491addfa83095bc699a3f1602ecf678
https://vbn.aau.dk/da/publications/4285db2a-40fb-4e5d-91e4-9e50b1d075f3
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7
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
Autor: Antoniou, AC, Kuchenbaecker, KB, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, OM, Caligo, MA, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, FB, van Os, TA, Verhoef, S, Meijers-Heijboer, HE, Wijnen, J, Gómez Garcia, EB, Ligtenberg, MJ, Kriege, M, Collée, JM, Ausems, MG, Oosterwijk, JC, Peock, S, Frost, D, Ellis, SD, Platte, R, Fineberg, E, Evans, DG, Lalloo, F, Jacobs, C, Eeles, R, Adlard, J, Davidson, R, Cole, T, Cook, J, Paterson, J, Douglas, F, Brewer, C, Hodgson, S, Morrison, PJ, Walker, L, Rogers, MT, Donaldson, A, Dorkins, H, Godwin, AK, Bove, B, Stoppa-Lyonnet, D, Houdayer, C, Buecher, B, de Pauw, A, Mazoyer, S, Calender, A, Léoné, M, Bressac-de Paillerets, B, Caron, O, Sobol, H, Frenay, M, Prieur, F, Ferrer, SU, Mortemousque, I, Buys, S, Daly, M, Miron, A, Terry, MU, Hopper, JL, John, EM, Southey, M, Goldgar, D, Singer, CF, Fink-Retter, A, Tea, MK, Kaulich, DU, Hansen, TV, Nielsen, FC, Barkardottir, RB, Gaudet, M, Kirchhoff, T, Joseph, V, Dutra-Clarke, A, Offit, K, Piedmonte, M, Kirk, J, Cohn, D, Hurteau, J, Byron, J, Fiorica, J, Toland, AE, Montagna, M, Oliani, C, Imyanitov, E, Isaacs, C, Tihomirova, L, Blanco, I, Lazaro, C, Teulé, A, Valle, JD, Gayther, SA, Odunsi, K, Gross, J, Karlan, BY, Olah, E, Teo, SH, Ganz, PA, Beattie, MS, Dorfling, CM, van Rensburg, EU, Diez, O, Kwong, A, Schmutzler, RK, Wappenschmidt, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Heidemann, S, Niederacher, D, Preisler-Adams, S, Gadzicki, D, Varon-Mateeva, R, Deissler, H, Gehrig, A, Sutter, C, Kast, K, Fiebig, B, Schäfer, D, Caldes, T, de la Hoya, M, Nevanlinna, H, Muranen, TA, Lespérance, B, Spurdle, AB, Neuhausen, SL, Ding, YC, Wang, X, Fredericksen, Z, Pankratz, VS, Lindor, NM, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Bonanni, B, Bernard, L, Dolcetti, R, Papi, L, Ottini, L, Radice, P, Greene, MH, Loud, JT, Andrulis, IL, Ozcelik, H, Mulligan, AU, Glendon, G, Thomassen, M, Gerdes, AM, Jensen, UB, Skytte, AB, Kruse, TA, Chenevix-Trench, G, Couch, FJ, Simard, J, Easton, DF, CIMBA, SWE-BRCA, HEBON, EMBRACE, GEMO Collaborators Study, kConFab Investigators
Publikováno v: Breast Cancer Res
Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibilit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::7160425b8ed26febded85f2cb6294976
https://openaccess.sgul.ac.uk/id/eprint/100528/1/bcr3121.pdf
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8
Membrane partitioning of acyl-CoA esters and reversal by acyl-CoA binding protein studied by AFM
Autor: Simonsen, Ac, Jensen, Ub, Nils Færgeman, Knudsen, J., Mouritsen, Og
Publikováno v: Simonsen, A C, Jensen, U B, Færgeman, N J, Knudsen, J & Mouritsen, O G 2003, ' Membrane partitioning of acyl-CoA esters and reversal by acyl-CoA binding protein studied by AFM ', Biophysical Journal, vol. 84, pp. 199a .
Web of Science
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ea14e08f5677d6f1b3849c7922f89e07
https://portal.findresearcher.sdu.dk/da/publications/29729fa0-ba9a-11dc-9626-000ea68e967b
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9
Akademický článek
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10
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