المؤلفون: O'Mahony, DG, Ramus, SJ, Southey, MC, Meagher, NS, Hadjisavvas, A, John, EM, Hamann, U, Imyanitov, EN, Andrulis, IL, Sharma, P, Daly, MB, Hake, CR, Weitzel, JN, Jakubowska, A, Godwin, AK, Arason, A, Bane, A, Simard, J, Soucy, P, Caligo, MA, Mai, PL, Claes, KBM, Teixeira, MR, Chung, WK, Lazaro, C, Hulick, PJ, Toland, AE, Pedersen, IS, Neuhausen, SL, Vega, A, de la Hoya, M, Nevanlinna, H, Dhawan, M, Zampiga, V, Danesi, R, Varesco, L, Gismondi, V, Vellone, VG, James, PA, Janavicius, R, Nikitina-Zake, L, Nielsen, FC, van Overeem Hansen, T, Pejovic, T, Borg, A, Rantala, J, Offit, K, Montagna, M, Nathanson, KL, Domchek, SM, Osorio, A, Garcia, MJ, Karlan, BY, De Fazio, A, Bowtell, D, McGuffog, L, Leslie, G, Parsons, MT, Doerk, T, Speith, L-M, dos Santos, ES, da Costa, AABA, Radice, P, Peterlongo, P, Papi, L, Engel, C, Hahnen, E, Schmutzler, RK, Wappenschmidt, B, Easton, DF, Tischkowitz, M, Singer, CF, Tan, YY, Whittemore, AS, Sieh, W, Brenton, JD, Yannoukakos, D, Fostira, F, Konstantopoulou, I, Soukupova, J, Vocka, M, Chenevix-Trench, G, Pharoah, PDP, Antoniou, AC, Goldgar, DE, Spurdle, AB, Michailidou, K, Mourits, MJE, Lesueur, F

العلاقة: NHMRC/400281; NHMRC/400413; pii: 10.1038/s41416-023-02263-5; O'Mahony, D. G., Ramus, S. J., Southey, M. C., Meagher, N. S., Hadjisavvas, A., John, E. M., Hamann, U., Imyanitov, E. N., Andrulis, I. L., Sharma, P., Daly, M. B., Hake, C. R., Weitzel, J. N., Jakubowska, A., Godwin, A. K., Arason, A., Bane, A., Simard, J., Soucy, P. ,. Lesueur, F. (2023). Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 . BRITISH JOURNAL OF CANCER, 128 (12), pp.2283-2294. https://doi.org/10.1038/s41416-023-02263-5Test.; http://hdl.handle.net/11343/332971Test

الإتاحة: https://doi.org/10.1038/s41416-023-02263-5Test
http://hdl.handle.net/11343/332971Test

المؤلفون: Jelsig AM, Byrjalsen A, Busk Madsen M, Kuhlmann TP, van Overeem Hansen T, Wadt KAW, Karstensen JG

المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 455-466 (2021)

مصطلحات موضوعية: polyposis, hereditary, familial adenomatous polyposis, cancer management, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/novel-genetic-causes-of-gastrointestinal-polyposis-syndromes-peer-reviewed-fulltext-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/541d824162694bf7bc61e338250c3420Test

المؤلفون: Moller, P, Seppala, T, Dowty, JG, Haupt, S, Dominguez-Valentin, M, Sunde, L, Bernstein, I, Engel, C, Aretz, S, Nielsen, M, Capella, G, Evans, DG, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J-P, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Half, E, Lopez-Koestner, F, Alvarez-Valenzuela, K, Scott, RJ, Katz, L, Laish, I, Vainer, E, Vaccaro, CA, Carraro, DM, Gluck, N, Abu-Freha, N, Stakelum, A, Kennelly, R, Winter, D, Rossi, BM, Greenblatt, M, Bohorquez, M, Sheth, H, Tibiletti, MG, Lino-Silva, LS, Horisberger, K, Portenkirchner, C, Nascimento, I, Rossi, NT, da Silva, LA, Thomas, H, Zarand, A, Mecklin, J-P, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Therkildsen, C, Lindberg, LJ, Thorlacius-Ussing, O, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hueneburg, R, de Vargas, AF, Latchford, A, Gerdes, A-M, Backman, A-S, Guillen-Ponce, C, Snyder, C, Lautrup, CK, Amor, D, Palmero, E, Stoffel, E, Duijkers, F, Hall, MJ, Hampel, H, Williams, H, Okkels, H, Lubinski, J, Reece, J, Ngeow, J, Guillem, JG, Arnold, J, Wadt, K, Monahan, K, Senter, L, Rasmussen, LJ, van Hest, LP, Ricciardiello, L, Kohonen-Corish, MRJ, Ligtenberg, MJL, Southey, M, Aronson, M, Zahary, MN, Samadder, NJ, Poplawski, N, Hoogerbrugge, N, Morrison, PJ, James, P, Lee, G, Chen-Shtoyerman, R, Ankathil, R, Pai, R, Ward, R, Parry, S, Debniak, T, John, T, van Overeem Hansen, T, Caldes, T, Yamaguchi, T, Barca-Tierno, V, Garre, P, Cavestro, GM, Weitz, J, Redler, S, Buettner, R, Heuveline, V, Hopper, JL, Win, AK, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, J, Buchanan, DD, Thibodeau, SN, ten Broeke, SW, Hovig, E, Nakken, S, Pineda, M, Duenas, N, Brunet, J, Green, K, Lalloo, F, Newton, K, Crosbie, EJ, Mints, M, Tjandra, D, Neffa, F, Esperon, P, Kariv, R, Rosner, G, Pavicic, WH, Kalfayan, P, Torrezan, GT, Bassaneze, T, Martin, C, Moslein, G, Ahadova, A, Kloor, M, Sampson, JR, Jenkins, MA

العلاقة: NHMRC/1194392; pii: 10.1186/s13053-022-00241-1; Moller, P., Seppala, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F. ,. Jenkins, M. A. (2022). Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. HEREDITARY CANCER IN CLINICAL PRACTICE, 20 (1), https://doi.org/10.1186/s13053-022-00241-1Test.; http://hdl.handle.net/11343/318368Test

الإتاحة: https://doi.org/10.1186/s13053-022-00241-1Test
http://hdl.handle.net/11343/318368Test

المؤلفون: Foss-Skiftesvik, J., Stoltze, U., van Overeem Hansen, T., Byrjalsen, A., Sehested, A., Scheie, D., Mikkelsen, T. Stamm, Rasmussen, S., Bak, M., Okkels, H., Callesen, M.T., Skjøth-Rasmussen, J., Gerdes, A.-M., Schmiegelow, K., Mathiasen, R., Wadt, K.

المصدر: Brain and Spine ; volume 2, page 101279 ; ISSN 2772-5294

الإتاحة: https://doi.org/10.1016/j.bas.2022.101279Test
https://api.elsevier.com/content/article/PII:S2772529422004209?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772529422004209?httpAccept=text/plainTest

المؤلفون: Yang X., Leslie G., Doroszuk A., Schneider S., Allen J., Decker B., Dunning A. M., Redman J., Scarth J., Plaskocinska I., Luccarini C., Shah M., Pooley K., Dorling L., Leei A., Adank M. A., Adlard J., Aittomaki K., Andrulis I. L., Ang P., Barwell J., Bernstein J. L., Bobolis K., Borg A., Blomqvist C., Claes K. B. M., Concannon P., Cuggia A., Culver J. O., Damiola F., De Pauw A., Diez O., Dolinsky J. S., Domchek S. M., Engel C., Evans D. G., Fostira F., Garber J., Golmard L., Goode E. L., Gruber S. B., Hahnen E., Hake C., Heikkinen T., Hurley J. E., Janavicius R., Kleibl Z., Kleiblova P., Konstantopoulou I., Kvist A., Laduca H., Lee A. S. G., Lesueur F., Maher E. R., Mannermaa A., Manoukian S., McFarland R., McKinnon W., Meindl A., Metcalfe K., Taib N. A. M., Moilanen J., Nathanson K. L., Neuhausen S., Ng P. S., Nguyen-Dumont T., Nielsen S. M., Obermair F., Offit K., Olopade O. I., Ottini L., Penkert J., Pylkas K., Radice P., Ramus S. J., Rudaitis V., Side L., Silva-Smith R., Silvestri V., Skytte A. -B., Slavin T., Soukupova J., Tondini C., Trainer A. H., Unzeitig G., Usha L., Van Overeem Hansen T., Whitworth J., Wood M., Yip C. H., Yoon S. -Y., Yussuf A., Zogopoulos G., Goldgar D., Hopper J. L., Chenevix-Trench G., Pharoah P., George S. H. L., Balmana J., Houdayer C., James P., El-Haffaf Z., Ehrencrona H., Janatova M., Peterlongo P., Nevanlinna H., Schmutzler R., Teo S. -H., Robson M., Pal T., Couch F., Weitzel J. N., Elliott A., Southey M., Winqvist R., Easton D. F., Foulkes W. D., Antoniou A. C., Tischkowitz M.

المساهمون: Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomaki, K., Andrulis, I. L., Ang, P., Barwell, J., Bernstein, J. L., Bobolis, K., Borg, A., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkas, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. -B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. -Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmana, J., Houdayer, C.

مصطلحات موضوعية: Palb2, pathogenic variant, cancer risk

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31841383; info:eu-repo/semantics/altIdentifier/wos/WOS:000521313500005; volume:38; issue:7; firstpage:674; lastpage:685; numberofpages:12; journal:JOURNAL OF CLINICAL ONCOLOGY; http://hdl.handle.net/11573/1415471Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080075709

الإتاحة: https://doi.org/10.1200/JCO.19.01907Test
http://hdl.handle.net/11573/1415471Test

المؤلفون: Høj, A., Løkken, N., Holm-Yildiz, SD., Krag, T., Dejanovic, D., van Overeem Hansen, T., Dunø, M., Ørngreen, M Cathrine, Vissing, J.

المصدر: Neuromuscular Disorders ; volume 33, page S183 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.459Test
https://api.elsevier.com/content/article/PII:S0960896623006399?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623006399?httpAccept=text/plainTest

المؤلفون: Moller P., Seppala T., Dowty J. G., Haupt S., Dominguez-Valentin M., Sunde L., Bernstein I., Engel C., Aretz S., Nielsen M., Capella G., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. -P., Sijmons R., Laghi L., Valle A. D., Heinimann K., Half E., Lopez-Koestner F., Alvarez-Valenzuela K., Scott R. J., Katz L., Laish I., Vainer E., Vaccaro C. A., Carraro D. M., Gluck N., Abu-Freha N., Stakelum A., Kennelly R., Winter D., Rossi B. M., Greenblatt M., Bohorquez M., Sheth H., Tibiletti M. G., Lino-Silva L. S., Horisberger K., Portenkirchner C., Nascimento I., Rossi N. T., da Silva L. A., Thomas H., Zarand A., Mecklin J. -P., Pylvanainen K., Renkonen-Sinisalo L., Lepisto A., Peltomaki P., Therkildsen C., Lindberg L. J., Thorlacius-Ussing O., von Knebel Doeberitz M., Loeffler M., Rahner N., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Huneburg R., de Vargas A. F., Latchford A., Gerdes A. -M., Backman A. -S., Guillen-Ponce C., Snyder C., Lautrup C. K., Amor D., Palmero E., Stoffel E., Duijkers F., Hall M. J., Hampel H., Williams H., Okkels H., Lubinski J., Reece J., Ngeow J., Guillem J. G., Arnold J., Wadt K., Monahan K., Senter L., Rasmussen L. J., van Hest L. P., Ricciardiello L., Kohonen-Corish M. R. J., Ligtenberg M. J. L., Southey M., Aronson M., Zahary M. N., Samadder N. J., Poplawski N., Hoogerbrugge N., Morrison P. J., James P., Lee G., Chen-Shtoyerman R., Ankathil R., Pai R., Ward R., Parry S., Debniak T., John T., van Overeem Hansen T., Caldes T., Yamaguchi T., Barca-Tierno V., Garre P., Cavestro G. M., Weitz J., Redler S., Buttner R., Heuveline V., Hopper J. L., Win A. K., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., ten Broeke S. W., Hovig E., Nakken S., Pineda M., Duenas N., Brunet J., Green K., Lalloo F., Newton K., Crosbie E. J., Mints M., Tjandra D., Neffa F., Esperon P., Kariv R., Rosner G., Pavicic W. H., Kalfayan P., Torrezan G. T., Bassaneze T., Martin C., Moslein G., Ahadova A., Kloor M., Sampson J. R., Jenkins M. A.

المساهمون: Moller, P., Seppala, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., Winship, I., Plazzer, J. -P., Sijmons, R., Laghi, L., Valle, A. D., Heinimann, K., Half, E., Lopez-Koestner, F., Alvarez-Valenzuela, K., Scott, R. J., Katz, L., Laish, I., Vainer, E., Vaccaro, C. A., Carraro, D. M., Gluck, N., Abu-Freha, N., Stakelum, A., Kennelly, R., Winter, D., Rossi, B. M., Greenblatt, M., Bohorquez, M., Sheth, H., Tibiletti, M. G., Lino-Silva, L. S., Horisberger, K., Portenkirchner, C., Nascimento, I., Rossi, N. T., da Silva, L. A., Thomas, H., Zarand, A., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Therkildsen, C., Lindberg, L. J., Thorlacius-Ussing, O., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Huneburg, R., de Vargas, A. F., Latchford, A., Gerdes, A. -M., Backman, A. -S., Guillen-Ponce, C., Snyder, C., Lautrup, C. K., Amor, D., Palmero, E., Stoffel, E., Duijkers, F., Hall, M. J., Hampel, H., Williams, H., Okkels, H., Lubinski, J., Reece, J., Ngeow, J., Guillem, J. G., Arnold, J., Wadt, K., Monahan, K., Senter, L., Rasmussen, L. J., van Hest, L. P., Ricciardiello, L., Kohonen-Corish, M. R. J., Ligtenberg, M. J. L., Southey, M., Aronson, M., Zahary, M. N., Samadder, N. J.

مصطلحات موضوعية: Colonoscopy, Colorectal cancer, Epidemiology, Incidence, Lynch Syndrome, Over-diagnosi, Penetrance, Prevention, Prospective, Segregation analysis

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000862552700001; volume:20; issue:1; journal:HEREDITARY CANCER IN CLINICAL PRACTICE; https://hdl.handle.net/11381/2933774Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139440044

الإتاحة: https://doi.org/10.1186/s13053-022-00241-1Test
https://hdl.handle.net/11381/2933774Test

المؤلفون: Milman, N, Hansen, A, van Overeem Hansen, T, Byg, K E, Haagen Nielsen, O

المصدر: Ugeskrift for Laeger. 168(42):3631

المؤلفون: Whiley, P. J., De La Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., Leeneer, K. D., Tenés, A., Montalban, G., Tserpelis, D., Yoshimatsu, T., Tirapo, C., Raponi, M., Caldes, T., Blanco Pérez, Ana, Santamariña, M., Guidugli, L., De Garibay, G. R., Wong, M., Tancredi, M., Fachal Vilar, Laura, Ding, Y. C., Kruse, T., Lattimore, V., Kwong, A., Chan, T. L., Colombo, M., De Vecchi, G., Caligo, M., Baralle, D., Lázaro, C., Couch, F., Radice, P., Southey, M. C., Neuhausen, S., Houdayer, C., Fackenthal, J., Van Overeem Hansen, T., Vega Gliemmo, Ana, Diez, O., Blok, R., Claes, K., Wappenschmidt, B., Walker, L., Spurdle, A. B., Brown, M. A.

مصطلحات موضوعية: BRCA1 Protein, BRCA2 Protein, Genetic Predisposition to Disease, Genetic Testing, Humans, Laboratories, Multivariate Analysis, Practice Guidelines as Topic, RNA Splice Sites, RNA Splicing, Sensitivity and Specificity

العلاقة: http://hdl.handle.net/20.500.11940/6327Test; 335146300011; 16564

الإتاحة: https://doi.org/20.500.11940/6327Test
https://doi.org/10.1373/clinchem.2013.210658Test
https://hdl.handle.net/20.500.11940/6327Test

المؤلفون: Burke L. J., Sevcik J., Gambino G., Tudini E., Mucaki E. J., Shirley B. C., Whiley P., Parsons M. T., De Leeneer K., Gutierrez-Enriquez S., Santamarina M., Caputo S. M., Santana dos Santos E., Soukupova J., Janatova M., Zemankova P., Lhotova K., Stolarova L., Borecka M., Moles-Fernandez A., Manoukian S., Bonanni B., Edwards S. L., Blok M. J., van Overeem Hansen T., Rossing M., Diez O., Vega A., Claes K. B. M., Goldgar D. E., Rouleau E., Radice P., Peterlongo P., Rogan P. K., Caligo M., Spurdle A. B., Brown M. A.

المساهمون: Burke, L. J., Sevcik, J., Gambino, G., Tudini, E., Mucaki, E. J., Shirley, B. C., Whiley, P., Parsons, M. T., De Leeneer, K., Gutierrez-Enriquez, S., Santamarina, M., Caputo, S. M., Santana dos Santos, E., Soukupova, J., Janatova, M., Zemankova, P., Lhotova, K., Stolarova, L., Borecka, M., Moles-Fernandez, A., Manoukian, S., Bonanni, B., Edwards, S. L., Blok, M. J., van Overeem Hansen, T., Rossing, M., Diez, O., Vega, A., Claes, K. B. M., Goldgar, D. E., Rouleau, E., Radice, P., Peterlongo, P., Rogan, P. K., Caligo, M., Spurdle, A. B., Brown, M. A.

مصطلحات موضوعية: BRCA1, BRCA2, breast cancer, promoter, transcription, variants of unknown clinical significance (VUS), 5' Untranslated Region, Age of Onset, BRCA1 Protein, BRCA2 Protein, Breast Neoplasm, CCAAT-Binding Factor, Cell Line, Tumor, Female, Genetic Predisposition to Disease, Human, MCF-7 Cell, PAX5 Transcription Factor, Protein Binding, Germ-Line Mutation, Promoter Regions, Genetic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30204945; info:eu-repo/semantics/altIdentifier/wos/WOS:000451194400023; volume:39; issue:12; firstpage:2025; lastpage:2039; numberofpages:15; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1107022Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053738111

الإتاحة: https://doi.org/10.1002/humu.23652Test
http://hdl.handle.net/11568/1107022Test