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1دورية أكاديميةThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
المؤلفون: Colombo, M, Lopez-Perolio, I, Meeks, HD, Caleca, L, Parsons, MT, Li, HY, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, EBG, Meindl, A, Montagna, M, Niederacher, D, Schmidt, AY, Varesco, L, Wappenschmidt, B, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, NV, Bojesen, SE, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Dork, T, Eriksson, M, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, Garcia-Closas, M, Giles, GG, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, JL, Jakubowska, A, Jung, A, Kosma, VM, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, RL, Neuhausen, SL, Nevanlinna, H, Olson, JE, Peterlongo, P, Peto, J, Pylkas, K, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, See, MH, Southey, MC, Swerdlow, A, Teo, SH, Toland, AE, Tomlinson, I, Truong, T, van Asperen, CJ, van den Ouweland, AMW, van der Kolk, LE, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, AM, Easton, DF, Henderson, A, Hogervorst, FBL, Izatt, L, Offitt, K, Side, LE, van Rensburg, EJ, McGuffog, L, Antoniou, AC, Chenevix-Trench, G, Spurdle, AB, Goldgar, DE, de la Hoya, M, Radice, P
المصدر: Human mutation. 39(5):729-741
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Foglia C., Parisi M. L., Pontarollo N.
المساهمون: Foglia, C., Parisi, M. L., Pontarollo, N.
مصطلحات موضوعية: Cities, Europe, Elderly, Well-being, Regression analysis, Subjective indicators
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001039101900001; volume:141; firstpage:104479; journal:CITIES; https://hdl.handle.net/11379/581245Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164334259; https://www.sciencedirect.com/science/article/pii/S0264275123002913Test
الإتاحة: https://doi.org/10.1016/j.cities.2023.104479Test
https://hdl.handle.net/11379/581245Test
https://www.sciencedirect.com/science/article/pii/S0264275123002913Test -
3دورية أكاديمية
المؤلفون: Gelli E., Colombo M., Pinto A. M., De Vecchi G., Foglia C., Amitrano S., Morbidoni V., Imperatore V., Manoukian S., Baldassarri M., Lo Rizzo C., Catania L., Frullanti E., Tagliafico E., Cortesi L., Spaggiari F., Mencarelli M. A., Trevisson E., Radice P., Renieri A., Ariani F.
المساهمون: Gelli, E., Colombo, M., Pinto, A. M., De Vecchi, G., Foglia, C., Amitrano, S., Morbidoni, V., Imperatore, V., Manoukian, S., Baldassarri, M., Lo Rizzo, C., Catania, L., Frullanti, E., Tagliafico, E., Cortesi, L., Spaggiari, F., Mencarelli, M. A., Trevisson, E., Radice, P., Renieri, A., Ariani, F.
مصطلحات موضوعية: BRCA, mRNA analysi, splicing, VUS
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30832263; info:eu-repo/semantics/altIdentifier/wos/WOS:000468550200025; volume:11; issue:3; firstpage:1; lastpage:22; numberofpages:22; journal:CANCERS; http://hdl.handle.net/11365/1078698Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063379368; https://www.mdpi.com/2072-6694/11/3/295/pdfTest
الإتاحة: https://doi.org/10.3390/cancers11030295Test
http://hdl.handle.net/11365/1078698Test
https://www.mdpi.com/2072-6694/11/3/295/pdfTest -
4دورية أكاديمية
المؤلفون: Martinelli, I., Konik, S., Guanziroli, E., Tharayil, J., Foglia, C., Alemu, M.M., Colombo, M., Specchia, A., Serino, A., Molteni, F., Bassolino, M.
المصدر: IEEE open journal of engineering in medicine and biology, vol. 4, pp. 278-283
مصطلحات موضوعية: Body representations, drawings, human figure, sensorimotor deficits, stroke
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38196980; info:eu-repo/semantics/altIdentifier/eissn/2644-1276; https://serval.unil.ch/notice/serval:BIB_55E38568FE68Test; urn:issn:2644-1276
الإتاحة: https://doi.org/10.1109/OJEMB.2023.3277711Test
https://serval.unil.ch/notice/serval:BIB_55E38568FE68Test -
5دورية أكاديمية
المؤلفون: Magri, A, Barbaglia, M, Foglia, C, Boccato, E, Burlone, M, Cole, S, Giarda, P, Grossini, E, Patel, A, Minisini, R, Pirisi, M
العلاقة: https://ora.ox.ac.uk/objects/uuid:31dc89b5-7003-4f2a-b10b-0819d1f0e8ffTest; https://doi.org/10.1111/liv.13303Test
الإتاحة: https://doi.org/10.1111/liv.13303Test
https://ora.ox.ac.uk/objects/uuid:31dc89b5-7003-4f2a-b10b-0819d1f0e8ffTest -
6دورية أكاديمية
المؤلفون: Colombo, M, Lòpez-Perolio, I, Meeks, HD, Caleca, L, Parsons, MT, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, EBG, Meindl, A, Montagna, M, Niederacher, D, Schmidt, AY, Varesco, L, Wappenschmidt, B, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, NV, Bojesen, SE, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, GG, González-Neira, A, Guénel, P, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, JL, Jakubowska, A, Jung, A, Kosma, V-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, RL, Neuhausen, SL, Nevanlinna, H, Olson, JE, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, See, MH, Southey, MC, Swerdlow, A, Teo, SH, Toland, AE, Tomlinson, I, Truong, T, van Asperen, CJ, van den Ouweland, AMW, van der Kolk, LE, Winqvist, R, Yannoukakos, D, Zheng, W, kConFab/AOCS Investigators, Dunning, AM, Easton, DF, Henderson, A, Hogervorst, FBL, Izatt, L, Offitt, K, Side, LE, van Rensburg, EJ, Embrace, S, Hebon, S, McGuffog, L, Antoniou, AC, Chenevix-Trench, G, Spurdle, AB, Goldgar, DE, Hoya, MDL, Radice, P
المساهمون: Fletcher, Olivia, Schoemaker, Minouk, Swerdlow, Anthony
مصطلحات موضوعية: BRCA2, digital PCR, multifactorial likelihood analysis, quantitative real-time PCR, spliceogenic variants
وصف الملف: 741; application/pdf
العلاقة: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000433600000012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4b848928d1c3e5c86d298abb68475f9Test; HUMAN MUTATION, 2018, 39 (5), pp. 729 - 741; https://repository.icr.ac.uk/handle/internal/3020Test
الإتاحة: https://doi.org/10.1002/humu.23411Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000433600000012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4b848928d1c3e5c86d298abb68475f9Test
https://repository.icr.ac.uk/handle/internal/3020Test -
7
المؤلفون: Foglia, C., Parisi, M. L., Pontarollo, N.
مصطلحات موضوعية: Europe, Elderly, Well-being, Cities, Europe, Elderly, Well-being, Regression analysis, Subjective indicators, Cities, Regression analysis, Subjective indicators
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3662::75833ab3aca7ae85bde2a511170a2971Test
https://hdl.handle.net/11379/581245Test -
8دورية أكاديمية
المؤلفون: Colombo, M. (Mara), Lopez-Perolio, I. (Irene), Meeks, H. D. (Huong D.), Caleca, L. (Laura), Parsons, M. T. (Michael T.), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E. B. (Encarna B. Gomez), Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A. Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Beeghly-Fadel, A. (Alicia), Benitez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J. L. (John L.), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), See, M. H. (Mee Hoong), Southey, M. C. (Melissa C.), Swerdlow, A. (Anthony), Teo, S. H. (Soo H.), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Henderson, A. (Alex), Hogervorst, F. B. (Frans B. L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. E. (Lucy E.), van Rensburg, E. J. (Elizabeth J.), McGuffog, L. (Lesley), Antoniou, A. C. (Antonis C.), Chenevix-Trench, G. (Georgia), Spurdle, A. B. (Amanda B.), Goldgar, D. E. (David E.), de la Hoya, M. (Miguel), Radice, P. (Paolo)
مصطلحات موضوعية: BRCA2, digital PCR, multifactorial likelihood analysis, quantitative real-time PCR, spliceogenic variants
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pissn/1059-7794; info:eu-repo/semantics/altIdentifier/eissn/1098-1004
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9دورية أكاديميةThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
المؤلفون: Colombo, M., Lopez-Perolio, I., Meeks, H.D., Caleca, L., Parsons, M.T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E.B.G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A.Y., Varesco, L., Wappenschmidt, B., Bolla, M.K., Dennis, J., Michailidou, K., Wang, Q., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Arndt, V., Beckmann, M.W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D.M., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Devilee, P., Dork, T., Eriksson, M., Fasching, P.A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., Garcia-Closas, M., Giles, G.G., Gonzalez-Neira, A., Guenel, P., Haiman, C.A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J.L., Jakubowska, A., Jung, A., Kosma, V.-M., Lambrechts, D., Le Marchand, L., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R.L., Neuhausen, S.L., Nevanlinna, H., Olson, J.E., Peterlongo, P., Peto, J., Pylkas, K., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., See, M.H., Southey, M.C., Swerdlow, A., Teo, S.H., Toland, A.E., Tomlinson, I., Truong, T., van Asperen, C.J., van den Ouweland, A.M.W., van der Kolk, L.E., Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A.M., Easton, D.F., Henderson, A., Hogervorst, F.B.L., Izatt, L., Offitt, K., Side, L.E., van Rensburg, E.J., McGuffog, L., Antoniou, A.C., Chenevix-Trench, G., Spurdle, A.B., Goldgar, D.E., de la Hoya, M., Radice, P., Investigators, KConFab/AOCS., EMBRACE, Study., HEBON, Study.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/132654/8/Colombo_et_al-2018-Human_Mutation.pdfTest; Colombo, M., Lopez-Perolio, I., Meeks, H.D. et al. (112 more authors) (2018) The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human Mutation, 39 (5). pp. 729-741. ISSN 1059-7794
الإتاحة: https://doi.org/10.1002/humu.23415Test
https://eprints.whiterose.ac.uk/132654Test/
https://eprints.whiterose.ac.uk/132654/8/Colombo_et_al-2018-Human_Mutation.pdfTest -
10دورية أكاديمية
المؤلفون: Piffer, A., Bianchetti, M.G., Leoni-Foglia, C., Simonetti, G.D., Milani, G.P., Lava, SAG
المصدر: British journal of clinical pharmacology, vol. 88, no. 10, pp. 4474-4480
مصطلحات موضوعية: Antidiuretic Hormone Receptor Antagonists/adverse effects, Benzazepines/adverse effects, Child, Diuretics/therapeutic use, Heart Failure/drug therapy, Humans, Hyponatremia/chemically induced, Hyponatremia/etiology, Sodium, Tolvaptan/adverse effects, childhood, diuretics, heart disease, hyponatraemia, nonpeptide vasopressin receptor antagonists, vaptans
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35474586; info:eu-repo/semantics/altIdentifier/eissn/1365-2125; https://serval.unil.ch/notice/serval:BIB_4C02B18B6D57Test; urn:issn:0306-5251
الإتاحة: https://doi.org/10.1111/bcp.15367Test
https://serval.unil.ch/notice/serval:BIB_4C02B18B6D57Test