نتائج البحث - "Görgens, H."

1

دورية أكاديمية

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study

المؤلفون: Dominguez-Valentin, M, Plazzer, J-P, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, IM, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Cappel, WHDVTN, Sijmons, RH, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, HFA, Perne, C, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, EJ, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sanchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Pinero, TA, Pavicic, WH, Kalfayan, P, ten Broeke, SW, Mecklin, J-P, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Hopper, JL, Win, AK, Buchanan, DD, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Hansen, TVO, Lindberg, L, Rodland, EA, Neffa, F, Esperon, P, Tjandra, D, Moslein, G, Seppala, TT, Moller, P

العلاقة: pii: jcm10132856; Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Cappel, W. H. D. V. T. N., Sijmons, R. H., Nielsen, M. ,. Moller, P. (2021). No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study. JOURNAL OF CLINICAL MEDICINE, 10 (13), https://doi.org/10.3390/jcm10132856Test.; http://hdl.handle.net/11343/281221Test

الإتاحة: https://doi.org/10.3390/jcm10132856Test
http://hdl.handle.net/11343/281221Test

View record in BASE

النص الكامل

2

دورية أكاديمية

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

المؤلفون: Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, RH, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, SW, Jenkins, MA, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, WHDVTN, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, OG, Rodland, EA, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, JR, Evans, DG, Seppala, TT, Moller, P

العلاقة: pii: S1098-3600(21)02448-5; Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Nakken, S., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L. ,. Moller, P. (2020). Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. GENETICS IN MEDICINE, 23 (4), pp.705-712. https://doi.org/10.1038/s41436-020-01029-1Test.; http://hdl.handle.net/11343/274252Test

الإتاحة: https://doi.org/10.1038/s41436-020-01029-1Test
http://hdl.handle.net/11343/274252Test

View record in BASE

النص الكامل

3

دورية أكاديمية

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

المؤلفون: Dominguez-Valentin, M, Sampson, JR, Seppala, TT, ten Broeke, SW, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, WH, Sijmons, RH, Bertario, L, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Gluck, N, Katz, LH, Heinimann, K, Vaccaro, CA, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schackert, HK, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvanainen, K, Renkonen-Sinisalo, L, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sanchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, EJ, Hill, J, Denton, OG, Frayling, IM, Rodland, EA, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, TA, Gonzalez, ML, Kalfayan, P, Tjandra, D, Winship, IM, Macrae, F, Moeslein, G, Mecklin, J-P, Nielsen, M, Moller, P

العلاقة: NHMRC/1141746; pii: S1098-3600(21)01093-5; Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H. ,. Moller, P. (2020). Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. GENETICS IN MEDICINE, 22 (1), pp.15-25. https://doi.org/10.1038/s41436-019-0596-9Test.; http://hdl.handle.net/11343/233176Test

الإتاحة: https://doi.org/10.1038/s41436-019-0596-9Test
http://hdl.handle.net/11343/233176Test

View record in BASE

النص الكامل

4

دورية أكاديمية

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

المؤلفون: Win, A.K., Dowty, J.G., Reece, J.C., Lee, G., Templeton, A.S., Plazzer, J.-P., Buchanan, D.D., Akagi, K., Aksoy, S., Alonso, A., Alvarez, K., Amor, D.J., Ankathil, R., Aretz, S., Arnold, J.L., Aronson, M., Austin, R., Backman, A.-S., Bajwa-ten Broeke, S.W., Barca-Tierno, V., Barwell, J., Bernstein, I., Berthet, P., Betz, B., Bignon, Y.-J., Boisjoli, T., Bonadona, V., Briollais, L., Brunet, J., Bucksch, K., Buecher, B., Buettner, R., Burn, J., Caldés, T., Capella, G., Caron, O., Casey, G., Chew, M.H., Choi, Y.-H., Church, J., Clendenning, M., Colas, C., Cops, E.J., Coupier, I., Cruz-Correa, M., de la Chapelle, A., de Wind, N., Dębniak, T., Della Valle, A., Delnatte, C., Dhooge, M., Dominguez-Valentin, M., Drouet, Y., Duijkers, F.A., Engel, C., Esperon, P., Evans, D.G., Falcón de Vargas, A., Figueiredo, J.C., Foulkes, W., Fourme, E., Frebourg, T., Gallinger, S., Garre, P., Genuardi, M., Gerdes, A.-M., Gima, L.M., Giraud, S., Goodwin, A., Görgens, H., Green, K., Guillem, J., Guillén-Ponce, C., Guimbaud, R., Guindalini, R.S.C., Half, E.E., Hall, M.J., Hampel, H., Hansen, T.V.O., Heinimann, K., Hes, F.J., Hill, J., Ho, J.W.C., Holinski-Feder, E., Hoogerbrugge, N., Hüneburg, R., Huntley, V., James, P.A., Jensen, U.B., John, T., Juhari, W.K.W., Kalady, M., Kastrinos, F., Kloor, M., Kohonen-Corish, M.R., Krogh, L.N., Kupfer, S.S., Ladabaum, U., Lagerstedt-Robinson, K., Lalloo, F., Lasset, C., Latchford, A., Laurent-Puig, P., Lautrup, C.K., Leggett, B.A., Lejeune, S., LeMarchand, L., Ligtenberg, M., Lindor, N., Loeffler, M., Longy, M., Lopez, F., Lowery, J., Lubiński, J., Lucassen, A.M., Lynch, P.M., Malińska, K., Matsubara, N., Mecklin, J.-P., Møller, P., Monahan, K., Morrison, P.J., Nattermann, J., Navarro, M., Neffa, F., Neklason, D., Newcomb, P.A., Ngeow, J., Nichols, C., Nielsen, M., Nixon, D.M., Nogues, C., Okkels, H., Olschwang, S., Pachter, N., Pai, R.K., Palmero, E.I., Pande, M., Parry, S., Patel, S.G., Pearlman, R., Perne, C., Pineda, M., Poplawski, N.K., Pylvänäinen, K., Qiu, J., Rahner, N., Ramesar, R., Rasmussen, L.J., Redler, S., Reis, R.M., Ricciardiello, L., Rogoża-Janiszewska, E., Rosty, C., Samadder, N.J., Sampson, J.R., Schackert, H.K., Schmiegel, W., Schulmann, K., Schuster, H., Scott, R., Senter, L., Seppälä, T.T., Shtoyerman, R., Sijmons, R.H., Snyder, C., Solomon, I.B., Soto, J.L., Southey, M.C., Spigelman, A., Spirandelli, F., Spurdle, A.B., Steinke-Lange, V., Stoffel, E.M., Strassburg, C.P., Sunde, L., Susman, R., Syngal, S., Tanakaya, K., Tezcan, G., Therkildsen, C., Thibodeau, S., Tomita, N., Tucker, K.M., Tunca, B., Turchetti, D., Uhrhammer, N., Utsunomiya, J., Vaccaro, C., van Duijnhoven, F.J.B., van Wanzeele, M.J., Vangala, D.B., Vasen, H.F.A., von Knebel Doeberitz, M., von Salomé, J., Wadt, K.A.W., Ward, R.L., Weitz, J., Weitzel, J.N., Williams, H., Winship, I., Wise, P.E., Wods, J., Woods, M.O., Yamaguchi, T., Zachariae, S., Zahary, M.N., Hopper, J.L., Haile, R.W., Macrae, F.A., Möslein, G., Jenkins, M.A.

المصدر: Win , A K , Dowty , J G , Reece , J C , Lee , G , Templeton , A S , Plazzer , J-P , Buchanan , D D , Akagi , K , Aksoy , S , Alonso , A , Alvarez , K , Amor , D J , Ankathil , R , Aretz , S , Arnold , J L , Aronson , M , Austin , R , Backman , A-S , Bajwa-ten Broeke , S W , Barca-Tierno , V , Barwell , J , Bernstein , I , Berthet , ....

مصطلحات موضوعية: Adult, Age Factors, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Heredity, Humans, Male, Middle Aged, Pedigree, Phenotype, Residence Characteristics, Retrospective Studies, Risk Assessment, Risk Factors, Sex Factors

الإتاحة: https://doi.org/10.1016/S1470-2045Test(21)00189-3
https://research.manchester.ac.uk/en/publications/c6e32014-71f4-46ca-81f0-c182c5436dbdTest

View record in BASE

5

دورية أكاديمية

No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: a prospective Lynch syndrome database study

المؤلفون: Dominguez-Valentin, M., Plazzer, J. P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, Emma J, Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sánchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W. H., Kalfayan, P., Broeke, S. W. T., Mecklin, J. P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rødland, E. A., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Seppälä, T. T, Møller, P.

المساهمون: Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.

العلاقة: https://dx.doi.org/10.3390/jcm10132856Test; Dominguez-Valentin M, Plazzer J-P, Sampson JR, Engel C, Aretz S, Jenkins MA, et al. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study. JCM. 2021 Jun 28;10(13):2856.; http://hdl.handle.net/10541/624491Test; Journal of Clinical Medicine

الإتاحة: https://doi.org/10.3390/jcm10132856Test
http://hdl.handle.net/10541/624491Test

View record in BASE

6

مؤتمر

PDGFRA-Überexpression korreliert mit einer günstigen Prognose gastrointestinaler Stromatumoren (GIST) - eine Analyse des Mutations- und Expressionsstatus von c-kit und PDGFRA bei 109 primär resezierten GIST

المؤلفون: Kern, A, Görgens, H, Krüger, S, Dittert, DD, Schackert, HK, Saeger, HD, Pistorius, S

المصدر: 126. Kongress der Deutschen Gesellschaft für Chirurgie; 20090428-20090501; München; DOC09dgch10932 /20090423/

مصطلحات موضوعية: ddc: 610

العلاقة: http://dx.doi.org/10.3205/09dgch192Test; http://nbn-resolving.de/urn:nbn:de:0183-09dgch1928Test; http://www.egms.de/en/meetings/dgch2009/09dgch192.shtmlTest

الإتاحة: https://doi.org/10.3205/09dgch192Test
http://nbn-resolving.de/urn:nbn:de:0183-09dgch1928Test
http://www.egms.de/en/meetings/dgch2009/09dgch192.shtmlTest

View record in BASE

7

مؤتمر

MLH1-Keimbahnmethylierung als Ursache für das hereditäre nicht-Polyposis-assoziierte kolorektale Karzinom Syndrom (HNPCC)

المؤلفون: Görgens, H, Hoffmann, J, Schackert, HK, Ebert, M

المصدر: 124. Kongress der Deutschen Gesellschaft für Chirurgie; 20070501-20070504; München; DOC07dgch7921 /20071001/

مصطلحات موضوعية: ddc: 610

العلاقة: http://www.egms.de/en/meetings/dgch2007/07dgch074.shtmlTest

الإتاحة: http://www.egms.de/en/meetings/dgch2007/07dgch074.shtmlTest

View record in BASE

8

مؤتمر

Die Sequenzvarianten Arg72Pro des Tumorsuppressorgens p53 und Arg462Gln des Prostatakarzinom-Suszeptibilitätsgens RNASEL haben einen additiven Effekt auf das Erkrankungsalter von HNPCC-Patienten

المؤلفون: Krüger, S, Engel, C, Bier, A, Silber, AS, Görgens, H, Mangold, E, Pagenstecher, C, Schackert, HK

المصدر: 124. Kongress der Deutschen Gesellschaft für Chirurgie; 20070501-20070504; München; DOC07dgch7851 /20071001/

مصطلحات موضوعية: ddc: 610

العلاقة: Krüger S et al. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC). J Med Genet 2005; 42: 769-773; Krüger S et al. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. Lancet Oncol 2005; 6: 566-572; http://www.egms.de/en/meetings/dgch2007/07dgch073.shtmlTest

الإتاحة: http://www.egms.de/en/meetings/dgch2007/07dgch073.shtmlTest

View record in BASE