„Mutations“

Suchergebnisse

10.000+ Treffer

• Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations
  Kocerha, Jannet ; Kouri, Naomi ; Baker, Matt ; Finch, NiCole ; DeJesus-Hernandez, Mariely ; Gonzalez, John ; Chidamparam, Kumaravel ; Josephs, Keith A. ; Boeve, Bradley F. ; Graff-Radford, Neill R. ; Crook, Julia ; Dickson, Dennis W. ; Rademakers, Rosa
• Conserved and variable correlated mutations in the plant MADS protein network
  van Dijk, Aalt DJ ; van Ham, Roeland CHJ
• Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome
  Patócs, Attila ; Lendvai, Nikoletta K. ; Butz, Henriett ; Liko, Istvan ; Sápi, Zoltán ; Szucs, Nikolette ; Tóth, Géza ; Igaz, Peter ; Toth, Miklos ; Racz, Karoly
• A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer
  Kerr, Lynne ; Rewhorn, Matthew J. ; Longmuir, Mark ; Fraser, Sioban ; Walsh, Shaun ; Andrew, Nicola ; Leung, Hing Y.
• Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue
  Vollbrecht, Claudia ; Hoffmann, Inga ; Lehmann, Annika ; Merkelbach-Bruse, Sabine ; Fassunke, Jana ; Wagener-Ryczek, Svenja ; Ball, Markus ; Dimitrova, Lora ; Hartmann, Arndt ; Stöhr, Robert ; Erber, Ramona ; Weichert, Wilko ; Pfarr, Nicole ; Bohlmann, Lisa ; Jung, Andreas ; Dietmaier, Wolfgang ; Dietel, Manfred ; Horst, David ; Hummel, Michael
• Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
  Haack, Tobias ; Makowski, Christine ; Yao, Yoshiaki ; Graf, Elisabeth ; Hempel, Maja ; Wieland, Thomas ; Tauer, Ulrike ; Ahting, Uwe ; Mayr, Johannes A. ; Freisinger, Peter ; Yoshimatsu, Hiroki ; Inui, Ken ; Strom, Tim M. ; Meitinger, Thomas ; Yonezawa, Atsushi ; Prokisch, Holger
• Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
  Kapplinger, Jamie D. ; Tseng, Andrew S. ; Salisbury, Benjamin A. ; Tester, David J. ; Callis, Thomas E. ; Alders, Marielle ; Wilde, Arthur A. M. ; Ackerman, Michael J.
• High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
  Kothiyal, Prachi ; Cox, Stephanie ; Ebert, Jonathan ; Husami, Ammar ; Kenna, Margaret A. ; Greinwald, John H. ; Aronow, Bruce J. ; Rehm, Heidi L.
• Stabilizing mutations increase secretion of functional soluble TCR-Ig fusion proteins
  Lunde, Elin ; Løset, Geir Åge ; Bogen, Bjarne ; Sandlie, Inger
• Profiling gene mutations, translocations, and multidrug resistance in pediatric acute lymphoblastic leukemia: a step forward to personalizing medicine
  Rose-James, Alphy ; Shiji, R. ; Kusumakumary, P. ; Nair, Manjusha ; George, Suraj K. ; Sreelekha, T. T.
• Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
  Lee, Jee-Soo ; Lee, Ji-Hyun ; Lee, Kyu Eun ; Kim, Jung Hee ; Hong, Joon Mo ; Ra, Eun Kyung ; Seo, Soo Hyun ; Lee, Seung Jun ; Kim, Man Jin ; Park, Sung Sup ; Seong, Moon-Woo
• Loss of mutL homolog-1 (MLH1) expression promotes acquisition of oncogenic and inhibitor-resistant point mutations in tyrosine kinases
  Springuel, Lorraine ; Losdyck, Elisabeth ; Saussoy, Pascale ; Turcq, Béatrice ; Mahon, François-Xavier ; Knoops, Laurent ; Renauld, Jean-Christophe
• Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm
  Ke, Tie ; Han, Meng ; Zhao, Miao ; Wang, Qing Kenneth ; Zhang, Huazhi ; Zhao, Yuanyuan ; Ruan, Xinlong ; Li, Hui ; Xu, Chengqi ; Sun, Tucheng
• Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients
  Khan, Aysha H. ; Aban, Muniba ; Raza, Jamal ; ul Haq, Naeem ; Jabbar, Abdul ; Moatter, Tariq
• Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
  Korvala, Johanna ; Jüppner, Harald ; Mäkitie, Outi ; Sochett, Etienne ; Schnabel, Dirk ; Mora, Stefano ; Bartels, Cynthia F. ; Warman, Matthew L. ; Deraska, Donald ; Cole, William G. ; Hartikka, Heini ; Ala-Kokko, Leena ; Männikkö, Minna
• Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
  Olesen, Morten S. ; Bentzen, Bo H. ; Nielsen, Jonas B. ; Steffensen, Annette B. ; David, Jens-Peter ; Jabbari, Javad ; Jensen, Henrik K. ; Haunsø, Stig ; Svendsen, Jesper H. ; Schmitt, Nicole
• Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
  Lopez Jimenez, Nelson ; Flannick, Jason ; Yahyavi, Mani ; Li, Jiang ; Bardakjian, Tanya ; Tonkin, Leath ; Schneider, Adele ; Sherr, Elliott H. ; Slavotinek, Anne M.
• Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
  Álvarez-Iglesias, Vanesa ; Mosquera-Miguel, Ana ; Cuscó, Ivon ; Carracedo, Angel ; Pérez-Jurado, Luis Alberto ; Salas, Antonio
• Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations
  Li, Xin-Hua ; Lu, Yi ; Ling, Yun ; Fu, Qing-Chun ; Xu, Jie ; Zang, Guo-Qing ; Zhou, Feng ; De-Min, Yu ; Han, Yue ; Zhang, Dong-Hua ; Gong, Qi-Ming ; Lu, Zhi-Meng ; Kong, Xiao-Fei ; Wang, Jian-She ; Zhang, Xin-Xin
• Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
  Yu, Chaowen ; Yang, Yuan ; Zou, Lin ; Hu, Zhangxue ; Li, Jing ; Liu, Yunqiang ; Ma, Yongxin ; Ma, Mingyi ; Su, Dan ; Zhang, Sizhong