Margareta Nordling

Professor Bitr

Avdelningen för Laboratoriemedicin

E-post

margareta.nordling@gu.se

Besöksadress

Bruna stråket 16

41345 Göteborg

Postadress

Sahlgrenska universitetssjukhuset

41345 Göteborg

Publikationer

Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

S. Svensson, Theofanis Zagoras, C. Aravidis, M. S. Askmalm, E. Bjorck, A. Borg, E. Kuchinskaya, M. Nilbert, Margareta Nordling, Anna Rohlin, G. Silander, K. Lagerstedt-Robinson, S. Gebre-Medhin
Genes Chromosomes & Cancer - 2022
Identification of known and novel familial cancer genes in Swedish colorectal cancer families

H. T. Helgadottir, J. Thutkawkorapin, Anna Rohlin, Margareta Nordling, K. Lagerstedt-Robinson, A. Lindblom
International Journal of Cancer - 2021
Update on genetic predisposition to colorectal cancer and polyposis

L. Valle, R. M. de Voer, Y. Goldberg, W. Sjursen, A. Forsti, C. Ruiz-Ponte, T. Caldes, P. Garre, M. F. Olsen, Margareta Nordling, S. Castellvi-Bel, K. Hemminki
Molecular Aspects of Medicine - 2019
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

A. Olkinuora, T. T. Nieminen, Emma Mårtensson, Anna Rohlin, A. Ristimaki, L. Koskenvuo, A. Lepisto, S. Gebre-Medhin, Margareta Nordling, P. Peltomaki
Genetics in Medicine - 2019
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

K. Lagerstedt-Robinson, Anna Rohlin, C. Aravidis, B. Melin, Margareta Nordling, M. Stenmark-Askmalm, A. Lindblom, M. E. F. Nilbert
Oncology Reports - 2016
GREM1 and POLE variants in hereditary colorectal cancer syndromes

Anna Rohlin, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Staffan Nilsson, Anders Edsjö, Jan Pedersen, Janhenry Svensson, Stefan Skullman, B Göran Karlsson, Jan Björk, Margareta Nordling
Genes, Chromosomes and Cancer - 2016
Genotype-phenotype correlations, and retinal function and structure in von hippel-lindau disease

E. Wittström, Margareta Nordling, S. Andréasson
Ophthalmic Genetics - 2014
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

B.A. Thompson, A.B. Spurdle, J.P. Plazzer, M.S. Greenblatt, K. Akagi, F. Al-Mulla, B.V. Bapat, I.T. Bernstein, G.M. Capellá, J.T. Den Dunnen, D. Du Sart, A.J. Fabre, M.P. Farrell, S.M. Farrington, I.M. Frayling, T.H. Frébourg, D.E.J. Goldgar, C.D. Heinen, E. Holinski-Feder, M.R.J. Kohonen-Corish, K.L. Robinson, S.Y. Leung, A. Martins, P. Möller, M. Morak, M. Nyström, P.T. Peltomäki, M. Pineda, M. Qi, R. Ramesar, L.J. Rasmussen, B. Royer-Pokora, R.J. Scott, R.H. Sijmons, S.V.S.V. Tavtigian, C.M.J. Tops, T.K. Weber, J.T.H. Wijnen, M.O. Woods, F.A. Macrae, M. Genuardi, A. Castillejo, A.C. Sexton, A.K.W. Chan, A.G.M. Viel, A.M. Blanco, A.J. French, A. Laner, A. Wagner, A.M.W. Van Den Ouweland, A.R. Mensenkamp, A. Payá, B. Betz, B.J.W. Redeker, B.G. Smith, C.R. Espenschied, C. Cummings, C. Engel, C. Fornes, C. Valenzuela, C. Alenda, D.D. Buchanan, D. Barana, D.V. Konstantinova, D. Cairns, E. Glaser, F. Silva, F.I. Lalloo, F. Crucianelli, F.B.L. Hogervorst, G.R. Casey, I.P.M. Tomlinson, I.B.S.I. Blanco, I.L. Villar, J. García-Planells, J. Bigler, J. Shia, J.J. Martínez-López, J.J.P. Gille, J.L. Hopper, J.D. Potter, J.L. Soto, J. Kantelinen, K. Ellis, K. Mann, L. Varesco, L. Zhang, L.L. Marchand, M.J. Marafie, Margareta Nordling, M.G. Tibiletti, M.A. Kahan, M.J.L. Ligtenberg, M. Clendenning, M.A. Jenkins, M.D. Speevak, M. Digweed, M. Kloor, M.P. Hitchins, M. Myers, M.D. Aronson, M.D. Valentin, M. Kutsche, M.T. Parsons, M.D. Walsh, M. Kansikas, M.N. Zahary, M. Pedroni, N. Heider, N.K. Poplawski, N. Rahner, N.M. Lindor, P. Sala, P. Nan, P. Propping, P. Newcomb, R. Sarin, R.W.C. Haile, R.M.W. Hofstra, R.L. Ward, R. Tricarico, R. Bacares, S. Young, S.G. Chialina, S.P. Kovalenko, S.R. Gunawardena, S. Moreno, S. Ho, S.T. Yuen, S.N. Thibodeau, S.S. Gallinger, T.S. Burnett, T. Teitsch, T.L. Chan, T.C. Smyrk, T. Cranston, V. Psofaki, V. Steinke-Lange, V.M. Barberá
Nature Genetics - 2014
A mutation in POLE predisposing to a multi-tumour phenotype

Anna Rohlin, Theofanis Zagoras, Staffan Nilsson, Ulf Lundstam, Jan Wahlström, Leif Hultén, Tommy Martinsson, B Göran Karlsson, Margareta Nordling
International Journal of Oncology - 2014
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Anna Rohlin, Ylva Engwall, Kaisa Fritzell, K Göransson, Alicia Bergsten, Zakaria Einbeigi, M Nilbert, Per Karlsson, Jan Björk, Margareta Nordling
Oncogene - 2011
BRCA1 gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer - a population based study from the Western Sweden Health Care region.

Zakaria Einbeigi, Charlotta Enerbäck, Arne Wallgren, Margareta Nordling, Per Karlsson
Acta oncologica - 2010
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Christoph Engel, Beatrix Versmold, Barbara Wappenschmidt, Jacques Simard, Douglas F Easton, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Rebecca Mayes, D Gareth Evans, Rosalind Eeles, Joan Paterson, Carole Brewer, Lesley McGuffog, Antonis C Antoniou, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Laure Barjhoux, Marc Frenay, Cécile Michel, Dominique Leroux, Helene Dreyfus, Christine Toulas, Laurence Gladieff, Nancy Uhrhammer, Yves-Jean Bignon, Alfons Meindl, Norbert Arnold, Raymonda Varon-Mateeva, Dieter Niederacher, Sabine Preisler-Adams, Karin Kast, Helmut Deissler, Christian Sutter, Dorothea Gadzicki, Georgia Chenevix-Trench, Amanda B Spurdle, Xiaoqing Chen, Jonathan Beesley, Håkan Olsson, Ulf Kristoffersson, Hans Ehrencrona, Annelie Liljegren, Rob B van der Luijt, Theo A van Os, Flora E van Leeuwen, Susan M Domchek, Timothy R Rebbeck, Katherine L Nathanson, Ana Osorio, Teresa Ramón y Cajal, Irene Konstantopoulou, Javier Benítez, Eitan Friedman, Bella Kaufman, Yael Laitman, Phuong L Mai, Mark H Greene, Heli Nevanlinna, Kristiina Aittomäki, Csilla I Szabo, Trinidad Caldes, Fergus J Couch, Irene L Andrulis, Andrew K Godwin, Ute Hamann, Rita K Schmutzler, Margareta Nordling, Annika Bergman, R. Blok, Zakaria Einbeigi, Per Karlsson
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 2010
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Antonis C Antoniou, Jonathan Beesley, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Susan L Neuhausen, Yuan Chun Ding, Timothy R Rebbeck, Jeffrey N Weitzel, Henry T Lynch, Claudine Isaacs, Patricia A Ganz, Gail Tomlinson, Olufunmilayo I Olopade, Fergus J Couch, Xianshu Wang, Noralane M Lindor, Vernon S Pankratz, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Alessandra Viel, Anna Allavena, Valentina Dall'Olio, Paolo Peterlongo, Csilla I Szabo, Michal Zikan, Kathleen Claes, Bruce Poppe, Lenka Foretova, Phuong L Mai, Mark H Greene, Gad Rennert, Flavio Lejbkowicz, Gord Glendon, Hilmi Ozcelik, Irene L Andrulis, Mads Thomassen, Anne-Marie Gerdes, Lone Sunde, Dorthe Cruger, Uffe Birk Jensen, Maria Caligo, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Maya Dubrovsky, Shimrit Cohen, Ake Borg, Helena Jernström, Annika Lindblom, Johanna Rantala, Marie Stenmark-Askmalm, Beatrice Melin, Kate Nathanson, Susan Domchek, Ania Jakubowska, Jan Lubinski, Tomasz Huzarski, Ana Osorio, Adriana Lasa, Mercedes Durán, Maria-Isabel Tejada, Javier Godino, Javier Benitez, Ute Hamann, Mieke Kriege, Nicoline Hoogerbrugge, Rob B van der Luijt, Christi J van Asperen, Peter Devilee, E J Meijers-Heijboer, Marinus J Blok, Cora M Aalfs, Frans Hogervorst, Matti Rookus, Margaret Cook, Clare Oliver, Debra Frost, Don Conroy, D Gareth Evans, Fiona Lalloo, Gabriella Pichert, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Shirley Hodgson, Patrick J Morrison, Mary E Porteous, Lisa Walker, M John Kennedy, Huw Dorkins, Susan Peock, Andrew K Godwin, Dominique Stoppa-Lyonnet, Antoine de Pauw, Sylvie Mazoyer, Valérie Bonadona, Christine Lasset, Hélène Dreyfus, Dominique Leroux, Agnès Hardouin, Pascaline Berthet, Laurence Faivre, Catherine Loustalot, Tetsuro Noguchi, Hagay Sobol, Etienne Rouleau, Catherine Nogues, Marc Frénay, Laurence Vénat-Bouvet, John L Hopper, Mary B Daly, Mary B Terry, Esther M John, Saundra S Buys, Yosuf Yassin, Alexander Miron, David Goldgar, Christian F Singer, Anne Catharina Dressler, Daphne Gschwantler-Kaulich, Georg Pfeiler, Thomas V O Hansen, Lars Jønson, Bjarni A Agnarsson, Tomas Kirchhoff, Kenneth Offit, Vincent Devlin, Ana Dutra-Clarke, Marion Piedmonte, Gustavo C Rodriguez, Katie Wakeley, John F Boggess, Jack Basil, Peter E Schwartz, Stephanie V Blank, Amanda Ewart Toland, Marco Montagna, Cinzia Casella, Evgeny Imyanitov, Laima Tihomirova, Ignacio Blanco, Conxi Lazaro, Susan J Ramus, Lara Sucheston, Beth Y Karlan, Jenny Gross, Rita Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Magdalena Lochmann, Norbert Arnold, Simone Heidemann, Raymonda Varon-Mateeva, Dieter Niederacher, Christian Sutter, Helmut Deissler, Dorothea Gadzicki, Sabine Preisler-Adams, Karin Kast, Ines Schönbuchner, Trinidad Caldes, Miguel de la Hoya, Kristiina Aittomäki, Heli Nevanlinna, Jacques Simard, Amanda B Spurdle, Helene Holland, Xiaoqing Chen, Radka Platte, Georgia Chenevix-Trench, Douglas F Easton, Margareta Nordling, Annika Bergman, Zakaria Einbeigi, Per Karlsson
Cancer research - 2010
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antonis C Antoniou, Olga M Sinilnikova, Lesley McGuffog, Sue Healey, Heli Nevanlinna, Tuomas Heikkinen, Jacques Simard, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Susan L Neuhausen, Yuan C Ding, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Bernard Peissel, Bernardo Bonanni, Alessandra Viel, Loris Bernard, Paolo Radice, Csilla I Szabo, Lenka Foretova, Michal Zikan, Kathleen Claes, Mark H Greene, Phuong L Mai, Gad Rennert, Flavio Lejbkowicz, Irene L Andrulis, Hilmi Ozcelik, Gord Glendon, Anne-Marie Gerdes, Mads Thomassen, Lone Sunde, Maria A Caligo, Yael Laitman, Tair Kontorovich, Shimrit Cohen, Bella Kaufman, Efrat Dagan, Ruth Gershoni Baruch, Eitan Friedman, Katja Harbst, Gisela Barbany-Bustinza, Johanna Rantala, Hans Ehrencrona, Per Karlsson, Susan M Domchek, Katherine L Nathanson, Ana Osorio, Ignacio Blanco, Adriana Lasa, Javier Benítez, Ute Hamann, Frans B L Hogervorst, Matti A Rookus, J Margriet Collee, Peter Devilee, Marjolijn J Ligtenberg, Rob B van der Luijt, Cora M Aalfs, Quinten Waisfisz, Juul Wijnen, Cornelis E P van Roozendaal, Susan Peock, Margaret Cook, Debra Frost, Clare Oliver, Radka Platte, D Gareth Evans, Fiona Lalloo, Rosalind Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Trevor Cole, Shirley Hodgson, Andrew K Godwin, Dominique Stoppa-Lyonnet, Bruno Buecher, Mélanie Léoné, Brigitte Bressac-de Paillerets, Audrey Remenieras, Olivier Caron, Gilbert M Lenoir, Nicolas Sevenet, Michel Longy, Sandra Fert Ferrer, Fabienne Prieur, David Goldgar, Alexander Miron, Esther M John, Saundra S Buys, Mary B Daly, John L Hopper, Mary Beth Terry, Yosuf Yassin, Christian Singer, Daphne Gschwantler-Kaulich, Christine Staudigl, Thomas V O Hansen, Rosa Bjork Barkardottir, Tomas Kirchhoff, Prodipto Pal, Kristi Kosarin, Kenneth Offit, Marion Piedmonte, Gustavo C Rodriguez, Katie Wakeley, John F Boggess, Jack Basil, Peter E Schwartz, Stephanie V Blank, Amanda E Toland, Marco Montagna, Cinzia Casella, Evgeny N Imyanitov, Anna Allavena, Rita K Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Dieter Niederacher, Helmut Deissler, Britta Fiebig, Christian Suttner, Ines Schönbuchner, Dorothea Gadzicki, Trinidad Caldes, Miguel de la Hoya, Karen A Pooley, Douglas F Easton, Georgia Chenevix-Trench, Margareta Nordling, Annika Bergman, A. Liljegren
Human molecular genetics - 2009
No evidence that GATA3 rs570613 SNP modifies breast cancer risk.

Sharon E Johnatty, Fergus J Couch, Zachary Fredericksen, Robert Tarrell, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Daphne Gschwantler-Kaulich, Christian F Singer, Christine Fuerhauser, Anneliese Fink-Retter, Susan M Domchek, Katherine L Nathanson, Vernon S Pankratz, Noralane M Lindor, Andrew K Godwin, Maria A Caligo, John Hopper, Melissa C Southey, Graham G Giles, Christina Justenhoven, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Tuomas Heikkinen, Kirsimari Aaltonen, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Kamila Czene, Jianjun Liu, Susan Peock, Margaret Cook, Radka Platte, D Gareth Evans, Fiona Lalloo, Rosalind Eeles, Gabriella Pichert, Diana Eccles, Rosemarie Davidson, Trevor Cole, Jackie Cook, Fiona Douglas, Carol Chu, Shirley Hodgson, Joan Paterson, Frans B L Hogervorst, Matti A Rookus, Caroline Seynaeve, Juul Wijnen, Maaike Vreeswijk, Marjolijn Ligtenberg, Rob B van der Luijt, Theo A M van Os, Hans J P Gille, Marinus J Blok, Claudine Issacs, Manjeet K Humphreys, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Antonis C Antoniou, Douglas F Easton, Georgia Chenevix-Trench, Margareta Nordling, Annika Bergman, Zakaria Einbeigi, E. Gomez-Garcia
Breast cancer research and treatment - 2009
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

A Osorio, R L Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, A B Spurdle, J Beesley, X Chen, S Healey, S L Neuhausen, Y C Ding, F J Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni, C I Szabo, L Foretova, M Zikan, K Claes, M H Greene, P Mai, G Rennert, F Lejbkowicz, O Barnett-Griness, I L Andrulis, H Ozcelik, N Weerasooriya, A-M Gerdes, M Thomassen, D G Cruger, M A Caligo, E Friedman, B Kaufman, Y Laitman, S Cohen, T Kontorovich, R Gershoni-Baruch, E Dagan, H Jernström, M S Askmalm, B Arver, B Malmer, S M Domchek, K L Nathanson, J Brunet, T Ramón Y Cajal, D Yannoukakos, U Hamann, F B L Hogervorst, S Verhoef, E B Gómez García, J T Wijnen, A van den Ouweland, D F Easton, S Peock, M Cook, C T Oliver, D Frost, C Luccarini, D G Evans, F Lalloo, R Eeles, G Pichert, J Cook, S Hodgson, P J Morrison, F Douglas, A K Godwin, O M Sinilnikova, L Barjhoux, D Stoppa-Lyonnet, V Moncoutier, S Giraud, C Cassini, L Olivier-Faivre, F Révillion, J-P Peyrat, D Muller, J-P Fricker, H T Lynch, E M John, S Buys, M Daly, J L Hopper, M B Terry, A Miron, Y Yassin, D Goldgar, C F Singer, D Gschwantler-Kaulich, G Pfeiler, A-C Spiess, Thomas V O Hansen, O T Johannsson, T Kirchhoff, K Offit, K Kosarin, M Piedmonte, G C Rodriguez, K Wakeley, J F Boggess, J Basil, P E Schwartz, S V Blank, A E Toland, M Montagna, C Casella, E N Imyanitov, A Allavena, R K Schmutzler, B Versmold, C Engel, A Meindl, N Ditsch, N Arnold, D Niederacher, H Deissler, B Fiebig, R Varon-Mateeva, D Schaefer, U G Froster, T Caldes, M de la Hoya, L McGuffog, A C Antoniou, H Nevanlinna, P Radice, J Benítez, Margareta Nordling, Annika Bergman, H. T. Lynch
British journal of cancer - 2009
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

Anna Rohlin, Josephine Wernersson, Yvonne Engwall, Leif Wiklund, Jan Björk, Margareta Nordling
Human mutation - 2009
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p

Annika Bergman, Frida Abel, Afrouz Behboudi, Maria Yhr, Jan Mattsson, J. H. Svensson, Per Karlsson, Margareta Nordling
BMC Med Genet - 2008
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

Gunilla Kanter-Smoler, K. Fritzell, Anna Rohlin, Yvonne Engwall, Birgitta Hallberg, Annika Bergman, Johan Meuller, H. Gronberg, Per Karlsson, J. Bjork, Margareta Nordling
BMC Medicine - 2008
Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3.

Annika Bergman, Per Karlsson, Jonna Berggren, Tommy Martinsson, Karin Björck, Staffan Nilsson, Jan Wahlström, Arne Wallgren, Margareta Nordling
Genes, chromosomes & cancer - 2007
Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

Zakaria Einbeigi, Annika Bergman, Jeanne Meis-Kindblom, Anna Flodin, Cecilia Bjursell, Tommy Martinsson, Lars-Gunnar Kindblom, Jan Wahlström, Arne Wallgren, Margareta Nordling, Per Karlsson
Familial cancer - 2007
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization

Gunilla Kanter-Smoler, Jan Björk, Kaisa Fritzell, Yvonne Engwall, Birgitta Hallberg, B Göran Karlsson, Henrik Grönberg, Per Karlsson, Arne Wallgren, Jan Wahlström, Rolf Hultcrantz, Margareta Nordling
Clin Gastroenterol Hepatol - 2006
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg, Christopher Lindberg, Eva Holmberg, Mar Tulinius, Margareta Nordling
Neuromuscular disorders : NMD - 2006
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

K K Mantripragada, A-C Thuresson, A Piotrowski, T Díaz de Ståhl, U Menzel, G Grigelionis, R E Ferner, S Griffiths, L Bolund, V Mautner, Margareta Nordling, E Legius, D Vetrie, N Dahl, L Messiaen, M Upadhyaya, C E G Bruder, J P Dumanski
Journal of medical genetics - 2006
The BRCA1 exon 13 duplication in the Swedish population.

Barbara Kremeyer, Maria Soller, K Lagerstedt, Paula Maguire, Sylvie Mazoyer, Margareta Nordling, Jan Wahlström, Annika Lindblom
Familial cancer - 2005
A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.

Annika Bergman, Anna Flodin, Yvonne Engwall, Eva L Arkblad, Kerstin Berg, Zakaria Einbeigi, Tommy Martinsson, Jan Wahlström, Per Karlsson, Margareta Nordling
Familial cancer - 2005
Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Johan Meuller, Gunilla Kanter-Smoler, Anders Nygren, Abdellatif Errami, Henrik Grönberg, Eva Holmberg, Jan Björk, Jan Wahlström, Margareta Nordling
Genetic testing - 2004
Nuclear accumulation of full-length and truncated adenomatous polyposis coli protein in tumor cells depends on proliferation.

Henrik Fagman, Fredrik Larsson, Yvonne Arvidsson, Johan Meuller, Margareta Nordling, Tommy Martinsson, Karen Helmbrecht, Georg Brabant, Mikael Nilsson
Oncogene - 2003
A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer.

Zakaria Einbeigi, Annika Bergman, Lars-Gunnar Kindblom, Tommy Martinsson, Jeanne Meis-Kindblom, Margareta Nordling, Mark Suurküla, Jan Wahlström, Arne Wallgren, Per Karlsson
European journal of cancer - 2001
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.

Annika Bergman, Zakaria Einbeigi, Ulrica Olofsson, Ziad Taib, Arne Wallgren, Per Karlsson, Jan Wahlström, Tommy Martinsson, Margareta Nordling
European journal of human genetics : EJHG - 2001
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations.

Jan Björk, Helena Åkerbrant, Lennart Iselius, Annika Bergman, Yvonne Engwall, Jan Wahlström, Tommy Martinsson, Margareta Nordling, Rolf Hultcrantz
Gastroenterology - 2001
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Cecilia Bjursell, Anna Erlandson, Margareta Nordling, Staffan Nilsson, Jan Wahlström, Helena Stibler, Bengt Kristiansson, Tommy Martinsson
Human mutation - 2000