„Mutations“

Suchergebnisse

10.000+ Treffer

• PRSS1 mutations and the proteinase/antiproteinase imbalance in the pathogenesis of pancreatic cancer
  Yi, Qiang ; Dong, Feng ; Lin, Liqing ; Liu, Qicai ; Chen, Shu ; Gao, Feng ; He, Qingliang
• Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency
  Magesh, R. ; George Priya Doss, C.
• Detecting Primary KIT Mutations in Presurgical Plasma of Patients with Gastrointestinal Stromal Tumor
  Kang, Guhyun ; Sohn, Byeong Seok ; Pyo, Jung-Soo ; Kim, Jung Yeon ; Lee, Boram ; Kim, Kyoung-Mee
• Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
  García, Daniel F. ; Camelo, José S. ; Molfetta, Greice A. ; Turcato, Marlene ; Souza, Carolina F. M. ; Porta, Gilda ; Steiner, Carlos E. ; Silva, Wilson A.
• Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy
  Parent, John J. ; Towbin, Jeffrey A. ; Jefferies, John L.
• Genotype–phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations
  Kim, Jee Young ; Koo, Haesoo ; Park, Kee-Duk ; Choi, Sun Sung ; Yu, Jin Seok ; Hong, Young Bin ; Chung, Ki Wha ; Choi, Byung-Ok
• Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA
  Meshach Paul, D. ; Rajasekaran, R.
• Mutations in genes encoding complement inhibitors CD46 and CFHaffect the age at nephritis onset in patients with systemic lupus erythematosus
  Jönsen, Andreas ; Nilsson, Sara C. ; Ahlqvist, Emma ; Svenungsson, Elisabet ; Gunnarsson, Iva ; Eriksson, Karin G. ; Bengtsson, Anders ; Zickert, Agneta ; Eloranta, Maija-Leena ; TRUEDSSON, LENNART ; Rönnblom, Lars ; Nordmark, Gunnel ; Sturfelt, Gunnar ; Blom, Anna M.
• A new category of autoinflammatory disease associated with NOD2 gene mutations
  Yao, Qingping ; Zhou, Lan ; Cusumano, Philip ; Bose, Nilanjana ; Piliang, Melissa ; Jayakar, Bijal ; Su, Le-Chu ; Shen, Bo
• Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability
  Alkhateeb, Asem M. ; Aburahma, Samah K. ; Habbab, Wesal ; Thompson, I. Richard
• Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
  Fry, Andrew E. ; Rees, Elliott ; Thompson, Rose ; Mantripragada, Kiran ; Blake, Penny ; Jones, Glyn ; Morgan, Sian ; Jose, Sian ; Mugalaasi, Hood ; Archer, Hayley ; McCann, Emma ; Clarke, Angus ; Taylor, Clare ; Davies, Sally ; Gibbon, Frances ; Te Water Naude, Johann ; Hartley, Louise ; Thomas, Gareth ; White, Catharine ; Natarajan, Jaya ; Thomas, Rhys H. ; Drew, Cheney ; Chung, Seo-Kyung ; Rees, Mark I. ; Holmans, Peter ; Owen, Michael J. ; Kirov, George ; Pilz, Daniela T. ; Kerr, Michael P.
• Identification of CTNNB1 mutations, CTNNB1 amplifications, and an Axin2 splice variant in juvenile angiofibromas
  Wemmert, Silke ; Willnecker, Vivienne ; Kulas, Philipp ; Weber, Stefanie ; Lerner, Cornelia ; Berndt, Sabrina ; Wendler, Olaf ; Schick, Bernhard
• Hotspot TERT promoter mutations are rare events in testicular germ cell tumors
  Cárcano, Flavio Mavignier ; Vidal, Daniel Onofre ; Helvoort Lengert, André van ; Neto, Cristovam Scapulatempo ; Queiroz, Luisa ; Marques, Herlander ; Baltazar, Fátima ; Silva Martinelli, Camila Maria da ; Soares, Paula ; Silva, Eduardo Caetano Albino da ; Lopes, Luiz Fernando ; Reis, Rui Manuel
• Genetic landscape of recurrent ASXL1, U2AF1, SF3B1, SRSF2, and EZH2 mutations in 304 Chinese patients with myelodysplastic syndromes
  Wu, Lingyun ; Song, Luxi ; Xu, Lan ; Chang, Chunkang ; Xu, Feng ; Wu, Dong ; He, Qi ; Su, Jiying ; Zhou, Liyu ; Xiao, Chao ; Zhang, Zheng ; Zhao, Youshan ; Chen, Saijuan ; Li, Xiao
• Association between HBV Pre-S mutations and the intracellular HBV DNAs in HBsAg-positive hepatocellular carcinoma in China
  Wang, Hui ; Wang, Ai-Hua ; Gressner, Olav A. ; Fang, Meng ; Gu, Xing ; Ji, Qiang ; Cheng, Shu-Qun ; Shen, Feng ; Gao, Chun-Fang
• Molecular imaging with 99mTc-MIBI and molecular testing for mutations in differentiating benign from malignant follicular neoplasm: a prospective comparison
  Giovanella, L. ; Campenni, A. ; Treglia, G. ; Verburg, F. A. ; Trimboli, Pierpaolo ; Ceriani, L. ; Bongiovanni, M.
• The study of MED12 gene mutations in uterine leiomyomas from Iranian patients
  Sadeghi, Samaneh ; Khorrami, Mandana ; Amin-Beidokhti, Mona ; Abbasi, Maryam ; Kamalian, Zeeba ; Irani, Shiva ; Omrani, Mirdavood ; Azmoodeh, Ozra ; Mirfakhraie, Reza
• Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome
  Bai, Xiaoming ; Liu, Jing ; Zhang, Zhiyong ; Liu, Chaohong ; Zhang, Yongjie ; Tang, Wenjing ; Dai, Rongxin ; Wu, Junfeng ; Tang, Xuemei ; Zhang, Yu ; Ding, Yuan ; Jiang, Liping ; Zhao, Xiaodong
• Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy
  Weber, Stefanie ; Strasser, Katja ; Rath, Sabine ; Kittke, Achim ; Beicht, Sonja ; Alberer, Martin ; Lange-Sperandio, Bärbel ; HOYER, PETER F. ; Benz, Marcus R. ; Ponsel, Sabine ; Weber, Lutz T. ; Klein, Hanns-Georg ; Hoefele, Julia
• PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
  Choi, Rihwa ; Park, Hyung-Doo ; Kang, Ben ; Choi, So Yoon ; Ki, Chang-Seok ; Lee, Soo-Youn ; Kim, Jong-Won ; Song, Junghan ; Choe, Yon Ho