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

Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers

伊朗首例囊性纤维化跨膜传导调节蛋白新生突变的鉴定及计算机结构分析：病例报告及利用微卫星标记的发育见解

期刊:Therapeutic Advances in Respiratory Disease
影响因子:3
doi:10.1177/17534666241253990
Hosseini Nami, Amin; Kabiri, Mahboubeh; Zafarghandi Motlagh, Fatemeh; Shirzadeh, Tina; Bagherian, Hamideh; Zeinali, Razie; Karimi, Ali; Zeinali, Sirous
发育与干细胞
发表日期：2024
文献求助 收藏

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families

COL6A基因家族突变导致三个互不相关的家族患上肌营养不良症

期刊:Iranian Biomedical Journal
影响因子:1.1
doi:10.61186/ibj.4018
Soltani, Nasibeh; Shahbazi, Zahra; Karimipoor, Morteza; Fallah, Mohammad Sadegh; Zafarghandi Motlagh, Fatemeh; Amini, Masoume; Jamali, Mojdeh; Bagherian, Hamideh; Zeinali, Razie; Zeinali, Sirous
COL
发表日期：2024
文献求助 收藏

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade

伊朗囊性纤维化患者的遗传特征：CFTR基因突变十余年来的诊断效能

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1140034
Hosseini Nami, Amin; Kabiri, Mahboubeh; Zafarghandi Motlagh, Fatemeh; Shirzadeh, Tina; Fakhari, Negar; Karimi, Ali; Bagherian, Hamideh; Jamali, Mojdeh; Younesikhah, Shahrzad; Shadman, Sara; Zeinali, Razie; Zeinali, Sirous
CFTR
发表日期：2023
文献求助 收藏

A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran.

伊朗开展了十年的分子植入前遗传学诊断，对 350 个胚胎进行 β-地中海贫血诊断，并结合 HLA 分型、非整倍体筛查和性别选择

期刊:BMC Pregnancy and Childbirth
影响因子:2.7
doi:10.1186/s12884-022-04660-9
Keshvar Yeganeh, Sabeghi Solmaz, Sharifi Zohreh, Fatemi Kiyana Sadat, Fouladi Panti, Younesi Khah Shahrzad, Rahiminejad Faezeh, Joudaki Atefeh, Amini Masoume, Bagherian Hamideh, Ghaffari Novin Marefat, Movahedin Mansoureh, Mojbafan Marzieh, Zeinali Sirous
其它
发表日期：2022
文献求助 收藏

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

在四个新的隐性遗传成骨不全家族中发现了MESD基因的双等位基因变异，该基因编码一种WNT信号通路相关蛋白。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2021.100051
Tran, Thao T; Keller, Rachel B; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A; Bamshad, Michael J; Chong, Jessica X; Byers, Peter H
信号转导
发表日期：2021
文献求助 收藏

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

通过综合生物信息学分析进行突变筛查，以检测家族性腺瘤性息肉病（FAP）患者APC基因中的新型种系突变

期刊:Journal of Clinical Laboratory Analysis
影响因子:2.9
doi:10.1002/jcla.23768
Ghadamyari, Faranak; Heidari, Mohammad Mehdi; Zeinali, Sirous; Khatami, Mehri; Merat, Shahin; Bagherian, Hamideh; Rejali, Leili; Ghasemi, Farzaneh
APC
FAP
免疫/内分泌
发表日期：2021
文献求助 收藏

Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations

伊朗BH4缺乏症家族中QDPR基因的分子特征：报告新的和复发性突变

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2015_441
Foroozani, Hannaneh; Abiri, Maryam; Salehpour, Shadab; Bagherian, Hamideh; Sharifi, Zohreh; Alaei, Mohammad Reza; Khatami, Shohreh; Azadmeh, Sara; Setoodeh, Aria; Rejali, Leyli; Rohani, Farzaneh; Zeinali, Sirous
发表日期：2015
文献求助 收藏