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Molecular Syndromology, ISSN 1661-8769, 05/2016, Volume 7, Issue 2, pp. 62 - 71
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary... 
Review Article | Ciliopathy | Bardet-Biedl syndrome | Treatment | Review | Recurrent mutations | Ethnic variations
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 597 - 604
Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys,... 
COMPLEX | GENOTYPE-PHENOTYPE CORRELATIONS | UNRELATED PATIENTS | GENE | EVEROLIMUS | FREQUENCY | GENETICS & HEREDITY | KOREAN PATIENTS | JAPANESE PATIENTS | IDENTIFICATION | SEVERITY
Journal Article
Rheumatology International, ISSN 0172-8172, 05/2018, Volume 38, Issue 5, pp. 887 - 893
Journal Article
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 Kuchenbaecker, Karoline and Ramus, Susan and Tyrer, Jonathan and Lee, Anew and Shen, Howard C and Beesley, Jonathan and Lawrenson, Kate and McGuffog, Lesley and Healey, Sue and Lee, Janet M and Spindler, Tassja J and Lin, Yvonne G and Pejovic, Tanja and Bean, Yukie and Li, Qiyuan and Coetzee, Simon and Hazelett, Dennis and Miron, Alexander and Southey, Melissa and Terry, Mary Beth and Goldgar, David and Buys, Sauna and Janavicius, Ramunas and Dorfling, Cecilia and Rensburg, Elizabeth and Neuhausen, Susan and Ding, Yuan and Hansen, Thomas and Jønson, Lars and Gerdes, Anne-Marie and Ejlertsen, Bent and Barrowdale, Daniel and Dennis, Joe and Benítez, Javier and Osorio, Ana and Garcia, Maria Jose and Komenaka, Ian and Weitzel, Jeffrey and Ganschow, Pamela and Peterlongo, Paolo and Bernard, Loris and Viel, Alessana and Bonnani, Bernardo and Peissel, Bernard and Manoukian, Siranoush and Radice, Paolo and Papi, Laura and Ottini, Laura and Fostira, Florentia and Konstantopoulou, I and Garber, Judy and Frost, Debra and Perkins, Jo and Platte, Radka and Ellis, Steve and Godwin, Anew K and Schmutzler, Rita and Meindl, Alfons and Engel, Christoph and Sutter, Christian and Sinilnikova, Olga and Damiola, Francesca and Mazoyer, Sylvie and Stoppa-Lyonnet, Dominique and Claes, Kathleen B.M and De Leeneer, Kim and Kirk, Judy and Roiguez, Gustavo and Piedmonte, Marion and O'Malley, David M and Hoya, Miguel and Caldes, Trinidad and Aittomäki, Kristiina and Nevanlinna, Heli and Margriet, J. Collée and Rookus, Matti and Oosterwijk, Jan and Tihomirova, Laima and Tung, Nadine and Hamann, Ute and Isaccs, Claudine and Tischkowitz, Marc and Imyanitov, Evgeny and Caligo, Maria and Campbell, Ian and Hogervorst, Frans and Olah, E and Díez, Orland and Blanco, Ignacio and Brunet, Joan and Lazaro, Conxi and Pujana, Miguel and Jakubowska, Anna and Gronwald, Jacek and Lubinski, Jan and Sukiennicki, Grzegorz and Barkardottir, Rosa and Plante, Marie and Simard, Jacques and Soucy, Penny and ... and KConFab Investigators and EMBRACE and GEMO Study Collaborators and Breast Cancer Family Registry and Australian Ovarian Canc Study Grp and HEBON and Consortium Invest Modifiers BRCA1 and Australian Canc Study Ovarian Canc and Australian Cancer Study (Ovarian Cancer Investigators) and Australian Ovarian Cancer Study Group and Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Avdelningen för kliniska vetenskaper and Hälsouniversitetet
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 2, pp. 164 - 171
Journal Article
Current pharmaceutical design, 2017, Volume 23, Issue 32, pp. 4794 - 4806
Journal Article
Cureus, ISSN 2168-8184, 02/2018, Volume 10, Issue 2
This report describes an estrogen receptor-positive breast cancer patient, who relapsed at two and a half years after the completion of adjuvant chemotherapy... 
Chemotherapy | Liver | Clinical trials | Cytotoxicity | Breast cancer | Metastasis | Mutation | Patients | Cancer therapies | Drug dosages | Deoxyribonucleic acid--DNA |