Items where the Publication is Journal of medical genetics

Year Authors/Creators Item Type Full Text

Article

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. (2005) Antoniou, AC; Pharoah, PDP; Narod, S; Risch, HA; Eyfjord, JE; Hopper, JL; Olsson, H; Johannsson, O; Borg, A; Pasini, B; Radice, P; Manoukian, S; Eccles, DM; Tang, N; Olah, E; Anton-Culver, H; Warner, E; Lubinski, J; Gronwald, J; Gorski, B; Tulinius, H; Thorlacius, S; Eerola, H; Nevanlinna, H; Syrjäkoski, K; Kallioniemi, O-P; Thompson, D; Evans, C; Peto, J; Lalloo, F; Evans, DG; Easton, DF

Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection. (2006) Dawes, R; Hennig, B; Irving, W; Petrova, S; Boxall, S; Ward, V; Wallace, D; Macallan, DC; Thursz, M; Hill, A; Bodmer, W; Beverley, PCL; Tchilian, EZ

Progressive influence of body mass index-associated genetic markers in rural Gambians. (2015) Fulford, Anthony J; Ong, Ken K; Elks, Cathy E; Prentice, Andrew M; Hennig, Branwen J

Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study. (2021) Gaba, Faiza; Goyal, Shivam; Marks, Dalya; Chandrasekaran, Dhivya; Evans, Olivia; Robbani, Sadiyah; Tyson, Charlotte; Legood, Rosa; Saridogan, Ertan; McCluggage, W Glenn; Hanson, Helen; Singh, Naveena; Evans, D Gareth; Menon, Usha; Manchanda, Ranjit; PROTECTOR team

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease. (2011) Khor, Chiea Chuen; Davila, Sonia; Shimizu, Chisato; Sheng, Stephanie; Matsubara, Tomoyo; Suzuki, Yasuo; Newburger, Jane W; Baker, Annette; Burgner, David; Breunis, Willemijn; Kuijpers, Taco; Wright, Victoria J; Levin, Michael; Hibberd, Martin L; Burns, Jane C; US and International Kawasaki Disease Genetics Consortia

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. (2001) MacDermot, KD; Holmes, A; Miners, AH

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. (2001) MacDermot, KD; Holmes, A; Miners, AH

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population. (2018) Manchanda, Ranjit; Blyuss, Oleg; Gaba, Faiza; Gordeev, Vladimir Sergeevich; Jacobs, Chris; Burnell, Matthew; Gan, Carmen; Taylor, Rohan; Turnbull, Clare; Legood, Rosa; Zaikin, Alexey; Antoniou, Antonis C; Menon, Usha; Jacobs, Ian

Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations. (2016) Manchanda, Ranjit; Burnell, Matthew; Loggenberg, Kelly; Desai, Rakshit; Wardle, Jane; Sanderson, Saskia C; Gessler, Sue; Side, Lucy; Balogun, Nyala; Kumar, Ajith; Dorkins, Huw; Wallis, Yvonne; Chapman, Cyril; Tomlinson, Ian; Taylor, Rohan; Jacobs, Chris; Legood, Rosa; Raikou, Maria; McGuire, Alistair; Beller, Uziel; Menon, Usha; Jacobs, Ian

Specifying the ovarian cancer risk threshold of 'premenopausal risk-reducing salpingo-oophorectomy' for ovarian cancer prevention: a cost-effectiveness analysis. (2016) Manchanda, Ranjit; Legood, Rosa; Antoniou, Antonis C; Gordeev, Vladimir S; Menon, Usha

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. (2011) Milne, Roger L; Lorenzo-Bermejo, Justo; Burwinkel, Barbara; Malats, Núria; Arias, Jose Ignacio; Zamora, M Pilar; Benítez, Javier; Humphreys, Manjeet K; García-Closas, Montserrat; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Anton-Culver, Hoda; Ziogas, Argyrios; Devilee, Peter; van Asperen, Christie J; Tollenaar, Rob AEM; Seynaeve, Caroline; Hall, Per; Czene, Kamila; Liu, Jianjun; Irwanto, Astrid K; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Nordestgaard, Børge G; Bojesen, Stig E; Flyger, Henrik; Margolin, Sara; Lindblom, Annika; Fasching, Peter A; Schulz-Wendtland, Ruediger; Ekici, Arif B; Beckmann, Matthias W; Wang-Gohrke, Shan; Shen, Chen-Yang; Yu, Jyh-Cherng; Hsu, Huan-Ming; Wu, Pei-Ei; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; English, Dallas R; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm WR; Beesley, Jonathan; Chen, Xiaoqing; Investigators, Kconfab; AOCS Group; Fletcher, Olivia; Gibson, Lorna; dos Santos Silva, Isabel; Peto, Julian; Frank, Bernd; Heil, Joerg; Meindl, Alfons; Chang-Claude, Jenny; Hein, Rebecca; Vrieling, Alina; Flesch-Janys, Dieter; Southey, Melissa C; Smith, Letitia; Apicella, Carmel; Hopper, John L; Dunning, Alison M; Pooley, Karen A; Pharoah, Paul DP; Hamann, Ute; Pesch, Beate; Ko, Yon-Dschun; GENICA Network; Easton, Douglas F; Chenevix-Trench, Georgia

Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, Colorado. (2004) Parra, EJ; Hoggart, CJ; Bonilla, C; Dios, S; Norris, JM; Marshall, JA; Hamman, RF; Ferrell, RE; McKeigue, PM; Shriver, MD

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. (2016) Southey, Melissa C; Goldgar, David E; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D; Dennis, Joe; Michailidou, Kyriaki; van Rensburg, Elizabeth J; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L; Dörk, Thilo; Claes, Kathleen Bm; Reis-Filho, Jorge; Teo, Zhi Ling; Radice, Paolo; Catucci, Irene; Peterlongo, Paolo; Tsimiklis, Helen; Odefrey, Fabrice A; Dowty, James G; Schmidt, Marjanka K; Broeks, Annegien; Hogervorst, Frans B; Verhoef, Senno; Carpenter, Jane; Clarke, Christine; Scott, Rodney J; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Peto, Julian; Dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Bolla, Manjeet K; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Yang, Rongxi; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig; Nielsen, Sune F; Flyger, Henrik; Benitez, Javier; Zamora, M Pilar; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Spurdle, Amanda B; Investigators, kConFab; Australian Ovarian Cancer Study Group; Wauters, Els; Smeets, Dominiek; Beuselinck, Benoit; Floris, Giuseppe; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Olson, Janet E; Vachon, Celine; Pankratz, Vernon S; McLean, Catriona; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Kristensen, Vessela; Alnæs, Grethe Grenaker; Zheng, Wei; Hunter, David J; Lindstrom, Sara; Hankinson, Susan E; Kraft, Peter; Andrulis, Irene; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Jukkola-Vuorinen, Arja; Grip, Mervi; Kauppila, Saila; Devilee, Peter; Tollenaar, Robert AEM; Seynaeve, Caroline; Hollestelle, Antoinette; Garcia-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Eccles, Diana M; Rafiq, Sajjad; Tapper, William J; Gerty, Sue M; Hooning, Maartje J; Martens, John WM; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm WR; Luccarini, Craig; Baynes, Caroline; Dunning, Alison M; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rüdiger, Thomas; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E; Ambrosone, Christine B; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Simard, Jacques; Dumont, Martine; Soucy, Penny; Eeles, Rosalind; Muir, Kenneth; Wiklund, Fredrik; Gronberg, Henrik; Schleutker, Johanna; Nordestgaard, Børge G; Weischer, Maren; Travis, Ruth C; Neal, David; Donovan, Jenny L; Hamdy, Freddie C; Khaw, Kay-Tee; Stanford, Janet L; Blot, William J; Thibodeau, Stephen; Schaid, Daniel J; Kelley, Joseph L; Maier, Christiane; Kibel, Adam S; Cybulski, Cezary; Cannon-Albright, Lisa; Butterbach, Katja; Park, Jong; Kaneva, Radka; Batra, Jyotsna; Teixeira, Manuel R; Kote-Jarai, Zsofia; Olama, Ali Amin Al; Benlloch, Sara; Renner, Stefan P; Hartmann, Arndt; Hein, Alexander; Ruebner, Matthias; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambretchs, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Nickels, Stefan; Eilber, Ursula; Wang-Gohrke, Shan; Odunsi, Kunle; Sucheston-Campbell, Lara E; Friel, Grace; Lurie, Galina; Killeen, Jeffrey L; Wilkens, Lynne R; Goodman, Marc T; Runnebaum, Ingo; Hillemanns, Peter A; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; Moysich, Kirsten B; du Bois, Andreas; Heitz, Florian; Harter, Philipp; Kommoss, Stefan; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjaer, Susanne Krüger; Høgdall, Estrid; Peissel, Bernard; Bonanni, Bernardo; Bernard, Loris; Goode, Ellen L; Fridley, Brooke L; Vierkant, Robert A; Cunningham, Julie M; Larson, Melissa C; Fogarty, Zachary C; Kalli, Kimberly R; Liang, Dong; Lu, Karen H; Hildebrandt, Michelle AT; Wu, Xifeng; Levine, Douglas A; Dao, Fanny; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S; Marks, Jeffrey R; Akushevich, Lucy; Cramer, Daniel W; Schildkraut, Joellen; Terry, Kathryn L; Poole, Elizabeth M; Stampfer, Meir; Tworoger, Shelley S; Bandera, Elisa V; Orlow, Irene; Olson, Sara H; Bjorge, Line; Salvesen, Helga B; van Altena, Anne M; Aben, Katja KH; Kiemeney, Lambertus A; Massuger, Leon FAG; Pejovic, Tanja; Bean, Yukie; Brooks-Wilson, Angela; Kelemen, Linda E; Cook, Linda S; Le, Nhu D; Górski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Høgdall, Claus K; Lundvall, Lene; Nedergaard, Lotte; Engelholm, Svend Aage; Dicks, Ed; Tyrer, Jonathan; Campbell, Ian; McNeish, Iain; Paul, James; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S; Rothstein, Joseph H; McGuire, Valerie; Sieh, Weiva; Cai, Hui; Shu, Xiao-Ou; Teten, Rachel T; Sutphen, Rebecca; McLaughlin, John R; Narod, Steven A; Phelan, Catherine M; Monteiro, Alvaro N; Fenstermacher, David; Lin, Hui-Yi; Permuth, Jennifer B; Sellers, Thomas A; Chen, Y Ann; Tsai, Ya-Yu; Chen, Zhihua; Gentry-Maharaj, Aleksandra; Gayther, Simon A; Ramus, Susan J; Menon, Usha; Wu, Anna H; Pearce, Celeste L; Van Den Berg, David; Pike, Malcolm C; Dansonka-Mieszkowska, Agnieszka; Plisiecka-Halasa, Joanna; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul Dp; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham G; Tavtigian, Sean V; Easton, Doug F; Milne, Roger L

An aetiological classification of birth defects for epidemiological research. (2005) Wellesley, D; Boyd, P; Dolk, H; Pattenden, S

Does apolipoprotein E polymorphism influence susceptibility to malaria? (2003) Wozniak, MA; Faragher, EB; Todd, JA; Koram, KA; Riley, EM; Itzhaki, RF

Apolipoprotein E polymorphisms and risk of malaria. (2004) Wozniak, MA; Riley, EM; Itzhaki, RF

Conference or Workshop Item

Communicating with parents about fetal abnormality. (2002) Abramsky, L; Hall, S; Levitan, J; Marteau, TM; Fletcher, O

Elevated maternal expression of the imprinted PHLDA2 gene is associated with low birth weight. (2006) Apostolidou, S; Abu-Amero, S; O'Donoghue, K; Olafsdottir, O; Chavele, KM; Frost, J; Whittaker, JC; Loughna, P; Stanier, P; Moore, GE