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by Couch, Fergus J and Wang, Xianshu and McGuffog, Lesley and Lee, Anew and Olswold, Curtis and Kuchenbaecker, Karoline B and Soucy, Penny and Fredericksen, Zachary and Barrowdale, Daniel and Dennis, Joe and Gaudet, Mia M and Dicks, Ed and Kosel, Matthew and Healey, Sue and Sinilnikova, Olga M and Lee, Adam and Bacot, François and Vincent, Daniel and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Jakubowska, Anna and Radice, Paolo and Schmutzler, Rita Katharina and Domchek, Susan M and Piedmonte, Marion and Singer, Christian F and Friedman, Eitan and Thomassen, Mads and Hansen, Thomas V. O and Neuhausen, Susan L and Szabo, Csilla I and Blanco, Ignacio and Greene, Mark H and Karlan, Beth Y and Garber, Judy and Phelan, Catherine M and Weitzel, Jeffrey N and Montagna, Marco and Olah, Edith and Anulis, Irene L and Godwin, Anew K and Yannoukakos, koulis and Goldgar, David E and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and Terry, Mary Beth and Daly, Mary B and van Rensburg, Elizabeth J and Hamann, Ute and Ramus, Susan J and Toland, Amanda Ewart and Caligo, Maria A and Olopade, Olufunmilayo I and Tung, Nadine and Claes, Kathleen and Beattie, Mary S and Southey, Melissa C and Imyanitov, Evgeny N and Tischkowitz, Marc and Janavicius, Ramunas and John, Esther M and Kwong, Ava and Diez, Orland and Balmaña, Judith and Barkardottir, Rosa B and Arun, Banu K and Rennert, Gad and teo, Soo-Hwang and Ganz, Patricia A and Campbell, Ian and van der Hout, Annemarie H and van Deurzen, Carolien H. M and Seynaeve, Caroline and Gómez Garcia, Encarna B and van Leeuwen, Flora E and Meijers-Heijboer, Hanne E. J and Gille, Johannes J. P and Ausems, Margreet G. E. M and Blok, Marinus J and Ligtenberg, Marjolijn J. L and Rookus, Matti A and Devilee, Peter and Verhoef, Senno and van Os, Theo A. M and Wijnen, Juul T and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Izatt, Louise and Eeles, Rosalind A and Adlard, Julian and Eccles, Diana M and Cook, Jackie and Brewer, Carole and Douglas, Fiona and Hodgson, Shirley and ... and KConFab Investigators and Ontario Canc Genetics Network and EMBRACE and GEMO Study Collaborators and CIMBA and HEBON and BCFR and SWE-BRCA and Ontario Cancer Genetics Network and kConFab Investigators and on behalf of CIMBA and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Onkologi and Hälsouniversitetet
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003212
Journal Article
by Mavaddat, N and Barrowdale, D and Anulis, I.L and Domchek, S.M and Eccles, D and Nevanlinna, H and Ramus, S.J and Spurdle, A and Robson, M and Sherman, M and Mulligan, A.M and Couch, F.J and Engel, C and McGuffog, L and Healey, S and Sinilnikova, O.M and Southey, M.C and Terry, M.B and Goldgar, D and O'Malley, F and John, E.M and Janavicius, R and Tihomirova, L and Hansen, T.V and Nielsen, F.C and Osorio, A and Stavropoulou, A and Benitez, J and Manoukian, S and Peissel, B and Barile, M and Volorio, S and Pasini, B and Dolcetti, R and Putignano, A.L and Ottini, L and Radice, P and Hamann, U and Rashid, M.U and Hogervorst, F.B.L and Kriege, M and Luijt, R.B. van der and Peock, S and Frost, D and Evans, D.G and Brewer, C and Walker, L and Rogers, M.T and Side, L.E and Houghton, C and Weaver, J and Godwin, A.K and Schmutzler, R.K and Wappenschmidt, B and Meindl, A and Kast, K and Arnold, N and Niederacher, D and Sutter, C and Deissler, H and Gadzicki, D and Preisler-Adams, S and Varon-Mateeva, R and Schonbuchner, I and Gevensleben, H and Stoppa-Lyonnet, D and Belotti, M and Barjhoux, L and Isaacs, C and Peshkin, B.N and Caldes, T and Hoya, M. de la and Canadas, C and Heikkinen, T and Heikkila, P and Aittomaki, K and Blanco, I and Lazaro, C and Brunet, J and Agnarsson, B.A and Arason, A and Barkardottir, R.B and Dumont, M and Simard, J and Montagna, M and Agata, S and D'Anea, E and Yan, M and Fox, S and Rebbeck, T.R and Rubinstein, W and Tung, N and Garber, J.E and Wang, X and Fredericksen, Z and Pankratz, V.S and Lindor, N.M and Szabo, C and Offit, K and Sakr, R and ... and kConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and SWE-BRCA Collaborators and Consortium Investigators Modifiers and Consortium of Investigators of Modifiers of BRCA1/2 and for EMBRACE and for HEBON and for the Consortium of Investigators of Modifiers of BRCA1/2 and for SWE-BRCA Collaborators and for kConFab Investigators and for GEMO Study Collaborators and Onkologi och Patologi, MV and EpiHealth: Epidemiology for Health and Lund University and Oncology and Pathology, MV and Lunds universitet
Cancer Epidemiology, Biomarkers & Prevention, ISSN 1055-9965, 2012, Volume 21, Issue 1, pp. 134 - 147
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 04/2017, Volume 27, Issue 4, pp. 370 - 376
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents... 
Phosphoilucomutase 1 | Glycogen Storage Disease type XIV | Congenital disorder of protein N-glycosylation | DISEASE | Oral galactose treatment | ENZYME REPLACEMENT THERAPY | NEUROSCIENCES | CLINICAL NEUROLOGY | PGM1 deficiency
Journal Article
by Osorio, Ana and Milne, Roger L and Kuchenbaecker, Karoline and Vaclova, Tereza and Pita, Guillermo and Alonso, Rosario and Peterlongo, Paolo and Blanco, Ignacio and de la Hoya, Miguel and Duran, Mercedes and Diez, Orland and Ramon y Cajal, Teresa and Konstantopoulou, Irene and Martinez-Bouzas, Cristina and Anes Conejero, Raquel and Soucy, Penny and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Swe-Brca, N. N and Arver, Brita and Rantala, Johanna and Loman, Niklas and Ehrencrona, Hans and Olopade, Olufunmilayo I and Beattie, Mary S and Domchek, Susan M and Nathanson, Katherine and Rebbeck, Timothy R and Arun, Banu K and Karlan, Beth Y and Walsh, Christine and Lester, Jenny and John, Esther M and Whittemore, Alice S and Daly, Mary B and Southey, Melissa and Hopper, John and Terry, Mary B and Buys, Sauna S and Janavicius, Ramunas and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Steele, Linda and Neuhausen, Susan L and Ding, Yuan Chun and Hansen, Thomas V. O and Jonson, Lars and Ejlertsen, Bent and Gerdes, Anne-Marie and Infante, Mar and Herraez, Belen and Moreno, Leticia Thais and Weitzel, Jeffrey N and Herzog, Josef and Weeman, Kisa and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Scuvera, Giulietta and Bonanni, Bernardo and Mariette, Frederique and Volorio, Sara and Viel, Alessana and Varesco, Liliana and Papi, Laura and Ottini, Laura and Tibiletti, Maria Grazia and Radice, Paolo and Yannoukakos, koulis and Garber, Judy and Ellis, Steve and Frost, Debra and Platte, Radka and Fineberg, Elena and Evans, Gareth and Lalloo, Fiona and Izatt, Louise and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Cole, Trevor and Eccles, Diana and Cook, Jackie and Hodgson, Shirley and Brewer, Carole and Tischkowitz, Marc and Douglas, Fiona and Porteous, Mary and Side, Lucy and Walker, Lisa and Morrison, Patrick and Donaldson, Alan and Kennedy, John and Foo, Claire and Godwin, Anew K and Schmutzler, Rita Katharina and Wappenschmidt, Barbara and Rhiem, Kerstin and Engel, Christoph and ... and KConFab Investigators and HEBON and SWE-BRCA and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
PLoS genetics, ISSN 1553-7390, 2014, Volume 10, Issue 4, p. e1004256
Journal Article
PLoS ONE, ISSN 1932-6203, 2015, Volume 10, Issue 4, pp. e0120020 - e0120020
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may... 
CHIP-SEQ | SURVIVAL | ELEMENTS | GENETIC INTERACTION NETWORKS | MODIFIERS | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | POLYMORPHISM | EXPRESSION SIGNATURE | CELL | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Microtubule-Associated Proteins - genetics | Extracellular Matrix Proteins - genetics | Humans | Carcinogenesis - genetics | Genetic Loci - genetics | Tubulin - genetics | Mammary Glands, Human - metabolism | Hyaluronan Receptors - genetics | Breast Neoplasms - enzymology | Likelihood Functions | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Cell Cycle Proteins - genetics | Genes, BRCA2 | Estrogen Receptor alpha - metabolism | Female | Polymorphism, Single Nucleotide | Retrospective Studies | Genes, BRCA1 | Mutation | Nuclear Proteins - genetics | Aurora Kinase A - genetics | Evolution, Molecular | Gene mutations | Genes | Breast cancer | Genetic aspects | Single nucleotide polymorphisms | Health aspects | Risk factors | Cancer | Biomedical research | Laboratories | Oncology | Genomes | Biology | Single-nucleotide polymorphism | Epidemiology | Carcinogenesis | Confidence intervals | Carcinogens | Risk assessment | Cell cycle | Bioinformatics | Public health | BRCA2 protein | BRCA1 protein | Health risks | Genetic diversity | Mammals | Primary care | Biological diversity | Carriers | Medicine | Pathology | Hospitals | Womens health | Alleles | Breast | Genetic engineering | Evolution & development | Tumors | Index Medicus | Càncer d'ovari | Càncer de mama | Mutació (Biologia) | Amino acid sequence | Seqüència d'aminoàcids | Mutation (Biology) | Ovarian cancer | Clinical Medicine | Medical and Health Sciences | Cancer and Oncology | Klinisk medicin | Medicin och hälsovetenskap | Cancer och onkologi
Journal Article
by Blein, Sophie and Bardel, Claire and Danjean, Vincent and McGuffog, Lesley and Healey, Sue and Barrowdale, Daniel and Lee, Anew and Dennis, Joe and Kuchenbaecker, Karoline B and Soucy, Penny and Terry, Mary Beth and Chung, Wendy K and Goldgar, David E and Buys, Sauna S and Janavicius, Ramunas and Tihomirova, Laima and Tung, Nadine and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Neuhausen, Susan L and Ding, Yuan Chun and Gerdes, Anne-Marie and Ejlertsen, Bent and Nielsen, Finn C and Hansen, Thomas vO and Osorio, Ana and Benitez, Javier and Conejero, Raquel Anés and Segota, Ena and Weitzel, Jeffrey N and Thelander, Margo and Peterlongo, Paolo and Radice, Paolo and Pensotti, Valeria and Dolcetti, Riccardo and Bonanni, Bernardo and Peissel, Bernard and Zaffaroni, Daniela and Scuvera, Giulietta and Manoukian, Siranoush and Varesco, Liliana and Capone, Gabriele L and Papi, Laura and Ottini, Laura and Yannoukakos, koulis and Konstantopoulou, Irene and Garber, Judy and Hamann, Ute and Donaldson, Alan and Brady, Angela and Brewer, Carole and Foo, Claire and Evans, D. Gareth and Frost, Debra and Eccles, Diana and Douglas, Fiona and Cook, Jackie and Adlard, Julian and Barwell, Julian and Walker, Lisa and Izatt, Louise and Side, Lucy E and Kennedy, M. John and Tischkowitz, Marc and Rogers, Mark T and Porteous, Mary E and Morrison, Patrick J and Platte, Radka and Eeles, Ros and Davidson, Rosemarie and Hodgson, Shirley and Cole, Trevor and Godwin, Anew K and Isaacs, Claudine and Claes, Kathleen and de Leeneer, Kim and Meindl, Alfons and Gehrig, Anea and Wappenschmidt, Barbara and Sutter, Christian and Engel, Christoph and Niederacher, Dieter and Steinemann, Doris and Plendl, Hansjoerg and Kast, Karin and Rhiem, Kerstin and Ditsch, Nina and Arnold, Norbert and Varon-Mateeva, Raymonda and Schmutzler, Rita K and Preisler-Adams, Sabine and Markov, Nadja Bogdanova and Wang-Gohrke, Shan and de Pauw, Antoine and Lefol, Céick and Lasset, Christine and Leroux, Dominique and Rouleau, Etienne and Damiola, Francesca and yfus, Hélène and ... and HEBON and EMBRACE and GEMO Study Collaborators and Breast Canc Family Registry and Breast Cancer Family Registry and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Breast cancer research, ISSN 1465-5411, 2015, Volume 17, Issue 1, p. 61
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 4, pp. 370 - 376
Journal Article