Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Syndrome and MUT[original query] |
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High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Familial cancer 2009 8 (2): 145-51. Grindedal Eli Marie, Blanco Ignacio, Stormorken Astrid, Maehle Lovise, Clark Neal, González Sara, Capella Gabriel, Vasen Hans, Burn John, Møller P |
APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. Annals of surgical oncology 2009 Apr 16 (4): 871-7. Lefevre Jérémie H, Parc Yann, Svrcek Magali, Kernéis Solen, Colas Chrystelle, Shields Conor, Flejou Jean-François, Parc Rolland, Tiret Emmanu |
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. European journal of cancer (Oxford, England : 1990) 2011 1 47 (7): 1046-55. Morak Monika, Massdorf Trisari, Sykora Helena, Kerscher Martina, Holinski-Feder El |
SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility. PloS one 2012 7 (8): e42037. van Hoorn Frans, Campian Maria E, Spijkerboer Anje, Blom Marieke T, Planken R Nils, van Rossum Albert C, de Bakker Jacques M T, Wilde Arthur A M, Groenink Maarten, Tan Hanno |
Functional characterization of TLR4 +3725 G/C polymorphism and association with protection against overweight. PloS one 2012 7 (12): 12. Penas-Steinhardt A, Barcos LS, Belforte FS, de Sereday M, Vilariño J, Gonzalez CD, Martínez-Larrad MT, Tellechea ML, Serrano-Ríos M, Poskus E, Frechtel GD, Leskow FC |
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes. The Journal of clinical endocrinology and metabolism 2012 Dec 97 (12): E2320-7. Ngeow Joanne, He Xin, Mester Jessica L, Lei Junying, Romigh Todd, Orloff Mohammed S, Milas Mira, Eng Char |
Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1316-21. Ngeow Joanne, Ni Ying, Tohme Rita, Song Chen Fu, Bebek Gurkan, Eng Char |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Higher Plasma Fibrinogen Levels are Associated with Malignant Phenotype and Worse Survival in Patients with Glioblastomas. Journal of Cancer 2018 9 (11): 2024-2029. Wang Peng-Fei, Meng Zhe, Song Hong-Wang, Yao Kun, Duan Ze-Jun, Li Shou-Wei, Yan Chang-Xia |
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney international reports 2019 9 4 (9): 1304-1311. Adalat Shazia, Hayes Wesley N, Bryant William A, Booth John, Woolf Adrian S, Kleta Robert, Subtil Sandra, Clissold Rhian, Colclough Kevin, Ellard Sian, Bockenhauer Detl |
Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. PloS one 2019 14 (3): e0214122. Haydar Sara, Grigorescu Florin, Vintil? M?d?lina, Cogne Yannick, Lautier Corinne, Tutuncu Yildiz, Brun Jean Frederic, Robine Jean Marie, Pugeat Michel, Normand Christophe, Poucheret Patrick, Gheorghiu Monica Livia, Georgescu Carmen, Badiu Corin, B?culescu Nicoleta, Renard Eric, Ylli Dorina, Badiou Stephanie, Sutra Thibault, Cristol Jean Paul, Mercier Jacques, Gomis Ramon, Macias Josep Maria, Litvinov Serghey, Khusnutdinova Elza, Poiana Catalina, Pasquali Renato, Lauro Davide, Sesti Giorgio, Prudente Sabrina, Trischitta Vincenzo, Tsatsoulis Agathocles, Abdelhak Sonia, Barakat Abdelhamid, Zenati Akila, Ylli Agron, Satman Ilhan, Kanninen Timo, Rinato Yves, Missoni Sa |
WRN-Mutated Colorectal Cancer Is Characterized by a Distinct Genetic Phenotype. Cancers 2020 5 12 (5): . Zimmer Kai, Puccini Alberto, Xiu Joanne, Baca Yasmine, Spizzo Gilbert, Lenz Heinz-Josef, Battaglin Francesca, Goldberg Richard M, Grothey Axel, Shields Anthony F, Salem Mohamed E, Marshall John L, Korn W Michael, Wolf Dominik, Kocher Florian, Seeber Andre |
Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients. Annals of hematology 2021 Jan . Janusz Kamila, Izquierdo Marta Martín, Cadenas Félix López, Ramos Fernando, Sánchez Jesús María Hernández, Lumbreras Eva, Robledo Cristina, Del Real Javier Sánchez, Caballero Juan Carlos, Collado Rosa, Bernal Teresa, Pedro Carme, Insunza Andrés, de Paz Raquel, Xicoy Blanca, Salido Eduardo, García Joaquín Sánchez, Mínguez Sandra Santos, García Cristina Miguel, Muñoz Ana María Simón, Barba Mercedes Sánchez, Rivas Jesús María Hernández, Abáigar María, Campelo María Dí |
Clinical characteristics and outcomes of EZH2-mutant myelodysplastic syndrome: A large single institution analysis of 1774 patients. Leukemia research 2022 12 124 106999. Ball Somedeb, Aguirre Luis E, Jain Akriti G, Ali Najla Al, Tinsley Sara M, Chan Onyee, Kuykendall Andrew T, Sweet Kendra, Lancet Jeffrey E, Sallman David A, Hussaini Mohammad Omar, Padron Eric, Komrokji Rami |
Mutational pattern off homologous recombination repair (HRR)-related genes in upper tract urothelial carcinoma. Cancer medicine 2023 6 . Kaiwei Yang, Wei Yu, Huanhuan Liu, Feng Lou, Shanbo Cao, Huina Wang, Zhisong |
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- Page last updated:Apr 16, 2024
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