Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics von Lehtonen, Heli J.

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MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas von MÄKINEN, Netta, MEHINE, Miika, AAVIKKO, Mervi, KATAINEN, Riku, VIROLAINEN, Elina, BÖHLING, Tom, KOSKI, Taru A, LAUNONEN, Virpi, SJÖBERG, Jari, TAIPALE, Jussi, VAHTERISTO, Pia, AALTONEN, Lauri A, TOLVANEN, Jaana, KAASINEN, Eevi, YILONG LI, LEHTONEN, Heli J, GENTILE, Massimiliano, JIAN YAN, ENGE, Martin, TAIPALE, Minna

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Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status von Bardella, Chiara, El-Bahrawy, Mona, Frizzell, Norma, Adam, Julie, Ternette, Nicola, Hatipoglu, Emine, Howarth, Kimberley, O'Flaherty, Linda, Roberts, Ian, Turner, Gareth, Taylor, Jennifer, Giaslakiotis, Konstantinos, Macaulay, Valentine M, Harris, Adrian L, Chandra, Ashish, Lehtonen, Heli J, Launonen, Virpi, Aaltonen, Lauri A, Pugh, Christopher W, Mihai, Radu, Trudgian, David, Kessler, Benedikt, Baynes, John W, Ratcliffe, Peter J, Tomlinson, Ian P, Pollard, Patrick J

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Prevalence of Germline PTEN, BMPR1A, SMAD4, STK11, and ENG Mutations in Patients With Moderate-Load Colorectal Polyps von Ngeow, Joanne, Heald, Brandie, Rybicki, Lisa A, Orloff, Mohammed S, Chen, Jin Lian, Liu, Xiuli, Yerian, Lisa, Willis, Joseph, Lehtonen, Heli J, Lehtonen, Rainer, Mester, Jessica L, Moline, Jessica, Burke, Carol A, Church, James, Aaltonen, Lauri A, Eng, Charis

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Candidate driver genes in microsatellite-unstable colorectal cancer von Alhopuro, Pia, Sammalkorpi, Heli, Niittymäki, Iina, Biström, Mia, Raitila, Anniina, Saharinen, Juha, Nousiainen, Kari, Lehtonen, Heli J., Heliövaara, Elina, Puhakka, Jani, Tuupanen, Sari, Sousa, Sónia, Seruca, Raquel, Ferreira, Ana M., Hofstra, Robert M. W., Mecklin, Jukka-Pekka, Järvinen, Heikki, Ristimäki, Ari, Ørntoft, Torben F., Hautaniemi, Sampsa, Arango, Diego, Karhu, Auli, Aaltonen, Lauri A.

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Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ -2 With Autosomal Dominant Familial Visceral Myopathy von Lehtonen, Heli J, Sipponen, Taina, Tojkander, Sari, Karikoski, Riitta, Järvinen, Heikki, Laing, Nigel G, Lappalainen, Pekka, Aaltonen, Lauri A, Tuupanen, Sari

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Mutations in the circadian gene CLOCK in colorectal cancer von Alhopuro, Pia, Björklund, Mikael, Sammalkorpi, Heli, Turunen, Mikko, Tuupanen, Sari, Biström, Mia, Niittymäki, Iina, Lehtonen, Heli J, Kivioja, Teemu, Launonen, Virpi, Saharinen, Juha, Nousiainen, Kari, Hautaniemi, Sampsa, Nuorva, Kyösti, Mecklin, Jukka-Pekka, Järvinen, Heikki, Orntoft, Torben, Arango, Diego, Lehtonen, Rainer, Karhu, Auli, Taipale, Jussi, Aaltonen, Lauri A

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Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma von Saarinen, Silva, Aavikko, Mervi, Aittomäki, Kristiina, Launonen, Virpi, Lehtonen, Rainer, Franssila, Kaarle, Lehtonen, Heli J., Kaasinen, Eevi, Broderick, Peter, Tarkkanen, Jussi, Bain, Barbara J., Bauduer, Frédéric, Ünal, Ali, Swerdlow, Anthony J., Cooke, Rosie, Mäkinen, Markus J., Houlston, Richard, Vahteristo, Pia, Aaltonen, Lauri A.

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Mice with Inactivation of Aryl Hydrocarbon Receptor-Interacting Protein ( Aip ) Display Complete Penetrance of Pituitary Adenomas with Aberrant ARNT Expression von Raitila, Anniina, Lehtonen, Heli J, Arola, Johanna, Heliövaara, Elina, Ahlsten, Manuel, Georgitsi, Marianthi, Jalanko, Anu, Paetau, Anders, Aaltonen, Lauri A, Karhu, Auli

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Analysis of fumarate hydratase mutations in a population‐based series of early onset uterine leiomyosarcoma patients von Ylisaukko‐oja, Sanna K., Kiuru, Maija, Lehtonen, Heli J., Lehtonen, Rainer, Pukkala, Eero, Arola, Johanna, Launonen, Virpi, Aaltonen, Lauri A.

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Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis von ASHRAFIAN, Houman, O'FLAHERTY, Linda, MIRANDA, Melroy, HOWARTH, Kimberley, SHUKLA, Deepa, TROY, Helen, GRIFFITHS, John, SPENCER-DENE, Bradley, YUSUF, Mohammed, VOLPI, Emanuela, MAXWELL, Patrick H, STAMP, Gordon, ADAM, Julie, POULSOM, Richard, PUGH, Christopher W, COSTA, Barbara, BARDELLA, Chiara, FLAVIA DI RENZO, Maria, KOTLIKOFF, Michael I, LAUNONEN, Virpi, AALTONEN, Lauri, EL-BAHRAWY, Mona, TOMLINSON, Ian, STEEPLES, Violetta, POLLARD, Patrick J, CHUNG, Yuen-Li, EAST, Phil, VANHARANTA, Sakari, LEHTONEN, Heli, NYE, Emma, HATIPOGLU, Emine

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Conventional renal cancer in a patient with fumarate hydratase mutation von Lehtonen, Heli J., MSc, Blanco, Ignacio, MD, PhD, Piulats, Jose M., MD, Herva, Riitta, MD, PhD, Launonen, Virpi, PhD, Aaltonen, Lauri A., MD, PhD

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Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer von Koski, Taru A., Lehtonen, Heli J., Jee, Kowan J., Ninomiya, Shinsuke, Joosse, Simon A., Vahteristo, Pia, Kiuru, Maija, Karhu, Auli, Sammalkorpi, Heli, Vanharanta, Sakari, Lehtonen, Rainer, Edgren, Henrik, Nederlof, Petra M., Hietala, Marja, Aittomäki, Kristiina, Herva, Riitta, Knuutila, Sakari, Aaltonen, Lauri A., Launonen, Virpi

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Distinct expression profile in fumarate-hydratase-deficient uterine fibroids von Vanharanta, Sakari, Pollard, Patrick J., Lehtonen, Heli J., Laiho, Päivi, Sjöberg, Jari, Leminen, Arto, Aittomäki, Kristiina, Arola, Johanna, Kruhoffer, Mogens, Ørntoft, Torben F., Tomlinson, Ian P., Kiuru, Maija, Arango, Diego, Aaltonen, Lauri A.

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High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint von NIITTYMAKI, Iina, GYLFE, Alexandra, NUORVA, Kyosti, MECKLIN, Jukka-Pekka, MÄKINEN, Markus, RISTIMÄKI, Ari, ØRNTOFT, Torben F, HAUTANIEMI, Sampsa, KARHU, Auli, KALLIO, Marko J, AALTONEN, Lauri A, LAINE, Leena, LAAKSO, Marko, LEHTONEN, Heli J, KONDELIN, Johanna, TOLVANEN, Jaana, NOUSIAINEN, Kari, POUWELS, Jeroen, JÄRVINEN, Heikki

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Overexpression of EIF3S3 promotes cancer cell growth von Savinainen, Kimmo J., Helenius, Merja A., Lehtonen, Heli J., Visakorpi, Tapio

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Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection von Zekavat, Seyedeh M., Lin, Shu-Hong, Bick, Alexander G., Liu, Aoxing, Paruchuri, Kaavya, Wang, Chen, Uddin, Md Mesbah, Ye, Yixuan, Yu, Zhaolong, Liu, Xiaoxi, Kamatani, Yoichiro, Bhattacharya, Romit, Pirruccello, James P., Pampana, Akhil, Loh, Po-Ru, Kohli, Puja, McCarroll, Steven A., Kiryluk, Krzysztof, Neale, Benjamin, Ionita-Laza, Iuliana, Engels, Eric A., Brown, Derek W., Smoller, Jordan W., Green, Robert, Karlson, Elizabeth W., Lebo, Matthew, Ellinor, Patrick T., Weiss, Scott T., Daly, Mark J., Terao, Chikashi, Zhao, Hongyu, Ebert, Benjamin L., Reilly, Muredach P., Ganna, Andrea, Machiela, Mitchell J., Genovese, Giulio, Natarajan, Pradeep

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Increased HIF1α in SDH and FH deficient tumors does not cause microsatellite instability von Lehtonen, Heli J., Mäkinen, Markus J., Kiuru, Maija, Laiho, Päivi, Herva, Riitta, Minderhout, Ivonne van, Hogendoorn, Pancras C.W., Cornelisse, Cees, Devilee, Peter, Launonen, Virpi, Aaltonen, Lauri A.

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The role of polygenic risk and susceptibility genes in breast cancer over the course of life von Mars, Nina, Widén, Elisabeth, Kerminen, Sini, Meretoja, Tuomo, Pirinen, Matti, della Briotta Parolo, Pietro, Palta, Priit, Palotie, Aarno, Kaprio, Jaakko, Joensuu, Heikki, Daly, Mark, Ripatti, Samuli

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Genetic architecture of human plasma lipidome and its link to cardiovascular disease von Tabassum, Rubina, Rämö, Joel T., Ripatti, Pietari, Koskela, Jukka T., Kurki, Mitja, Karjalainen, Juha, Palta, Priit, Hassan, Shabbeer, Nunez-Fontarnau, Javier, Kiiskinen, Tuomo T. J., Söderlund, Sanni, Matikainen, Niina, Gerl, Mathias J., Surma, Michal A., Klose, Christian, Stitziel, Nathan O., Laivuori, Hannele, Havulinna, Aki S., Service, Susan K., Salomaa, Veikko, Pirinen, Matti, Jauhiainen, Matti, Daly, Mark J., Freimer, Nelson B., Palotie, Aarno, Taskinen, Marja-Riitta, Simons, Kai, Ripatti, Samuli

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