Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Dorthe G. Crüger"'
Autor:
Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum
Publikováno v:
PLoS Genetics, Vol 11, Iss 7, p e1005386 (2015)
Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more g
Externí odkaz:
https://doaj.org/article/c3cde509dda1488686ad20653467c3ea
Autor:
Dorthe G. Crüger, Anders Jakobsen, Jan Lindebjerg, Kathleen D. Danenberg, Hidekazu Kuramochi, Lene Byriel, Lars Henrik Jensen, Peter V. Danenberg, Anders Aamann Rasmussen
Publikováno v:
Jensen, L H, Rasmussen, A A, Byriel, L, Kuramochi, H, Crüger, D G, Lindebjerg, J, Danenberg, P V, Jakobsen, A & Danenberg, K 2013, ' Regulation of MLH1 mRNA and protein expression by promoter methylation in primary colorectal cancer : a descriptive and prognostic cancer marker study ', Cellular Oncology, vol. 36, no. 5, pp. 411-419 . https://doi.org/10.1007/s13402-013-0148-2
Background In colorectal cancer MLH1 deficiency causes microsatellite instability, which is relevant for the patient's prognosis and treatment, and its putative heredity. Dysfunction of MLH1 is caused by sporadic gene promoter hypermethylation or by
Autor:
A. Abele, Rosalind A. Eeles, Soo Hwang Teo, Marc Tischkowitz, Audrey Ardern-Jones, Ignacio Blanco, Elizabeth Bancroft, Gad Rennert, Nicola Nicolai, Graeme Suthers, R. Doherty, Huw Dorkins, Annelie Liljegren, Cezary Cybulski, S. Townshend, Yolanda Barbachano, L. Maehle, Dorthe G. Crüger, B. Newcombe, Peter R. Wilson, Alan Donaldson, David P. Dearnaley, Virginia E. Clowes, Irene Jobson, C. J. van Asperen, Vincent Khoo, Hans Lilja, Charles Jameson, Zsofia Kote-Jarai, Henrik Grönberg, A. Male, Carole Brewer, Wendy S. Rubinstein, Elizabeth Page, B. Bulman, Clare Moynihan, D G R Evans, T. Ramón y Cajal, Allan D. Spigelman, Jan Lubinski, Louise Izatt, Jorunn E. Eyfjord, Palle Jørn Sloth Osther, Y. J. Bignon, Eitan Friedman, Alan M. F. Stapleton, Fritz H. Schröder, Sara S. Strom, Geoffrey J. Lindeman, Alison Falconer, J Melia, Mónica Salinas, Christopher S. Foster, Colin Mercer, Katherine L. Tucker, Karol Axcrona, Freddie C. Hamdy, Lisa Walker, Judy Kirk, Saundra S. Buys, Susan M. Domchek, Mohnish Suri, Kyriacos Kyriacou, Susan Peock, D. Ilencikova, Chris H. Bangma, Neil K. Aaronson, A. Mitra, Paul Sibley, Fiona Douglas, Douglas F. Easton, Oskar T. Johannsson, Lambertus A. Kiemeney, Diana Eccles, Shirley Hodgson, Gillian Mitchell
Publikováno v:
BJU International. 107:28-39
What's known on the subject? and What does the study add? Scientists have found a number of genetic factors that increase prostate cancer risk, including heritable mutations in the genes BRCA1 and BRCA2. These mutations are not common but can have ma
Autor:
Maria J. Soares, Mauricio Magalhaes Costa, Ingrid Petroni Ewald, Rachel Kyle, Nelly Sabbaghian, Torben A Kruse, Leonor Gusmão, Mads Thomassen, Silvia Casadei, Annemarie H. van der Hout, Marc Tischkowitz, Patrícia Rocha, Ana Vega, Miguel de la Hoya, Patricia Ashton-Prolla, Lone Sunde, Sara Gutiérrez-Enríquez, Dirce Maria Carraro, Conxi Lázaro, Philippe Maillet, Maroulio Pertesi, Cindy Benson, Pedro Pinto, Alberto Gulino, Nancy Uhrhammer, Drakoulis Yannoukakos, William D. Foulkes, Lucie Cornil, Etienne Rouleau, Ana Peixoto, Ignacio Blanco, Gaelle Benais-Pont, Robert Royer, Mary Claire King, Montserrat Baiget, Thangarajan Rajkumar, María Dolores Miramar, Ana Rodriguez Valle, Maria Teresa Calvo, Judith Balmaña, Anne-Marie Gerdes, Rosette Lidereau, Giuseppe Giannini, Catarina Santos, Eladio Velasco, Maria Isabel Achatz, Dorthe G. Crüger, Luisa Mota-Vieira, Carmen Alonso, Orland Diez, Eitan Friedman, Manuela Pinheiro, Brigitte Bressac-de Paillerets, Yael Laitman, Steven A. Narod, Teresa Ramón y Cajal, Begoña Graña, António Amorim, Trinidad Caldés, Lídia Feliubadaló, Mercedes Durán, Bruno Pardo, Erik Teugels, Audrey Remenieras, Manuel R. Teixeira, Yves-Jean Bignon, Ana Blanco
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L E M, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Breast Cancer Research and Treatment, 127(3), 671-679. SPRINGER
BREAST CANCER RESEARCH AND TREATMENT
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L E M, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Breast Cancer Research and Treatment, 127(3), 671-679. SPRINGER
BREAST CANCER RESEARCH AND TREATMENT
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al.
The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutat
The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutat
Autor:
Anne-Marie Gerdes, Dorthe G. Crüger, Klaus Brusgaard, Maiken Thyregod Joergensen, Ove B. Schaffalitzky de Muckadell
Publikováno v:
Jørgensen, M T, Brusgaard, K, Crüger, D G, Gerdes, A-M & Schaffalitzky de Muckadell, O B 2010, ' Incidence, Prevalence, Etiology, and Prognosis of First-Time Chronic Pancreatitis in Young Patients: A Nationwide Cohort Study ', Digestive Diseases and Sciences, vol. 55, no. 10, pp. 2988-2998 . https://doi.org/10.1007/s10620-009-1118-4
Udgivelsesdato: 2010-Jan-28 BACKGROUND/AIMS: Publications on etiology of chronic pancreatitis (CP) are infrequent. Etiologies today encompass genetic disorders. We wanted to describe etiologies of today and identify patients with genetic disorders li
Publikováno v:
Woodward, E R, Skytte, A-B, Cruger, D G & Maher, E R 2010, ' Population-based survey of cancer risks in chromosome 3 translocation carriers ', Genes, Chromosomes & Cancer, vol. 49, no. 1, pp. 52-8 . https://doi.org/10.1002/gcc.20718
Udgivelsesdato: 2010-Jan Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be associated with germline mutations in a number of genes. Twelve different constitutional translocations involving chromosome 3 have also been describ
Autor:
Emma R. Woodward, A M Considine, Dorthe G. Crüger, S Williamson, J M McHugo, H V Sleightholme
Publikováno v:
Woodward, E R, Sleightholme, H V, Considine, A M, Williamson, S, McHugo, J M & Crüger, D G 2007, ' Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high-risk and population risk women is ineffective ', British Journal of Obstetrics and Gynecology, vol. 114, no. 12, pp. 1500-1509 . https://doi.org/10.1111/j.1471-0528.2007.01499.x
Objective To assess the efficacy of annual CA125 and transvaginal ultrasound (TVU) scan as surveillance for ovarian cancer. Design Retrospective audit. Setting NHS Trust. Population Three hundred and forty-one asymptomatic women enrolled for ovarian
Publikováno v:
Cancer Genetics and Cytogenetics. 168:168-171
Germline mutations in BRCA1 and BRCA2 predispose female carriers to breast and ovarian cancer. The majority of mutations identified are small deletions or insertions or are nonsense mutations. Large genomic rearrangements in BRCA1 are found with vary
Publikováno v:
Clinical Genetics. 69:171-178
To meet the increasing demand for BRCA1 and BRCA2 mutation analysis, a robust system for selecting families who have a higher chance of a mutation has become important. Several models have been developed to help predict which samples are more likely
Publikováno v:
Clinical Genetics. 68:228-233
We report an approach for BRCA1/2 testing whereby genetic testing can be offered to families at high risk of hereditary breast and ovarian cancer but where no DNA from affected relatives is available. By testing two or more unaffected relatives at 50