日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation

KCNJ10基因的新突变与SeSAME综合征相关:一种罕见疾病,可能存在常见突变

Shakeri, Shayan; Mohammadi, Sanaz; Sadeghipour, Forough; Masoudi, Marjan; Entezam, Mona

Cerebrospinal fluid MTBR243 tau correlates with [18F] GTP1 Tau PET and the two biomarkers show similar correlations with clinical measures

脑脊液MTBR243 tau蛋白与[18F]GTP1 tau PET显像结果呈正相关,且这两种生物标志物与临床指标的相关性相似。

Entezam, Ali; Biacsi, Rea; Orrison, Bonnie; Saha, Tapas; Hoffman, Gloria E; Grabczyk, Ed; Nussbaum, Robert L; Usdin, Karen; Verghese, Philip B; Meyer, Matthew R; Tzeng, Shin‐Cheng; Rabe, Christina; Lee, Julie; Biever, Anne; Calderon, Emilia; Teng, Edmond; Monteiro, Cecilia; Yeh, Felix L; Patania, Kaleb; Venkatesh, Venky; West, Tim; Bittner, Tobias; Braunstein, Joel B

CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum

伊朗南部先天性肾上腺皮质增生症患者的CYP21A2基因分析及突变谱简要回顾

Zangene, Danial; Moravej, Hossein; Ilkhanipoor, Homa; Amirhakimi, Anis; Afshar, Zhila; Entezam, Mona

Effects of bromodomain and extra-terminal inhibitor JQ1 and interleukin-6 on breast cancer cells

溴结构域和末端抑制剂JQ1及白细胞介素6对乳腺癌细胞的影响

Atefeh Sharifhoseini, Masoud Heshmati, Amin Soltani, Mahshad Entezam, Hedayatollah Shirzad, Morteza Sedehi, Babri A Judd, Mohammad-Saeid Jami, Mahdi Ghatrehsamani

Absorbed dose calculation for a realistic CT-derived mouse phantom irradiated with a standard Cs-137 cell irradiator using a Monte Carlo method

使用蒙特卡罗方法计算真实CT衍生小鼠模型在标准Cs-137细胞辐照器照射下的吸收剂量

Entezam, Amir; Fielding, Andrew; Bradley, David; Fontanarosa, Davide

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

多基因分析在超过25,000名神经肌肉疾病患者中的临床应用价值

Winder, Thomas L; Tan, Christopher A; Klemm, Sarah; White, Hannah; Westbrook, Jody M; Wang, James Z; Entezam, Ali; Truty, Rebecca; Nussbaum, Robert L; McNally, Elizabeth M; Aradhya, Swaroop

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

在一项针对大量儿童癫痫患者的研究中,结合序列变异和基因内拷贝数变异检测的基因检测方法,可能对精准医疗产生影响。

Truty, Rebecca; Patil, Nila; Sankar, Raman; Sullivan, Joseph; Millichap, John; Carvill, Gemma; Entezam, Ali; Esplin, Edward D; Fuller, Amy; Hogue, Michelle; Johnson, Britt; Khouzam, Amirah; Kobayashi, Yuya; Lewis, Rachel; Nykamp, Keith; Riethmaier, Darlene; Westbrook, Jody; Zeman, Michelle; Nussbaum, Robert L; Aradhya, Swaroop

CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

CRB1相关莱伯氏先天性黑蒙:报告新的致病变异并简要回顾突变谱

Saberi, Mohammad; Golchehre, Zahra; Karamzade, Arezou; Entezam, Mona; Eshaghkhani, Yeganeh; Alavinejad, Elaheh; Khojasteh Jafari, Hassan; Keramatipour, Mohammad

PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data

伊朗常染色体显性多囊肾病家族中的 PKD2 突变具有误导性连锁分析数据

Mona Entezam, Mohammad Reza Khatami, Fereshteh Saddadi, Mohsen Ayati, Jamshid Roozbeh, Mohammad Keramatipour

Thermoluminescence Response of Ge-Doped Cylindrical-, Flat- and Photonic Crystal Silica-Fibres to Electron and Photon Radiation

锗掺杂圆柱形、平面形和光子晶体二氧化硅光纤对电子和光子辐射的热释光响应

Entezam, A; Khandaker, M U; Amin, Y M; Ung, N M; Bradley, D A; Maah, J; Safari, M J; Moradi, F