Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

por Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Publicado 2017

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics.

por Montserrat Garcia-Closas, Per Hall, Heli Nevanlinna, Karen Pooley, Jonathan Morrison, Douglas A Richesson, Stig E Bojesen, Børge G Nordestgaard, Christen K Axelsson, Jose I Arias, Roger L Milne, Gloria Ribas, Anna González-Neira, Javier Benítez, Pilar Zamora, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Yon-Dschun Ko, Thomas Bruening, Susanne Haas, Thilo Dörk, Peter Schürmann, Peter Hillemanns, Natalia Bogdanova, Michael Bremer, Johann Hinrich Karstens, Rainer Fagerholm, Kirsimari Aaltonen, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, Arto Mannermaa, Matti Uusitupa, Matti Eskelinen, Maria Tengström, Veli-Matti Kosma, Vesa Kataja, Georgia Chenevix-Trench, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Australian Ovarian Cancer Management Group, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Peter Devilee, Christi J van Asperen, Catharina E Jacobi, Rob A E M Tollenaar, Petra E A Huijts, Jan G M Klijn, Jenny Chang-Claude, Silke Kropp, Tracy Slanger, Dieter Flesch-Janys, Elke Mutschelknauss, Ramona Salazar, Shan Wang-Gohrke, Fergus Couch, Ellen L Goode, Janet E Olson, Celine Vachon, Zachary S Fredericksen, Graham G Giles, Laura Baglietto, Gianluca Severi, John L Hopper, Dallas R English, Melissa C Southey, Christopher A Haiman, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Daniel O Stram, David J Hunter, Susan E Hankinson, David G Cox, Rulla Tamimi, Peter Kraft, Mark E Sherman, Stephen J Chanock, Jolanta Lissowska, Louise A Brinton, Beata Peplonska, Jan G M Klijn, Maartje J Hooning, Han Meijers-Heijboer, J Margriet Collee, Ans van den Ouweland, Andre G Uitterlinden, Jianjun Liu, Low Yen Lin, Li Yuqing, Keith Humphreys, Kamila Czene, Angela Cox, Sabapathy P Balasubramanian, Simon S Cross, Malcolm W R Reed, Fiona Blows, Kristy Driver, Alison Dunning, Jonathan Tyrer, Bruce A J Ponder, Suleeporn Sangrajrang, Paul Brennan, James McKay, Fabrice Odefrey, Valerie Gabrieau, Alice Sigurdson, Michele Doody, Jeffrey P Struewing, Bruce Alexander, Douglas F Easton, Paul D Pharoah
Publicado 2008